#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
PDZRN3	23024	broad.mit.edu	37	3	73432662	73432662	+	Missense_Mutation	SNP	C	C	T	rs146957114		TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr3:73432662C>T	ENST00000263666.4	-	10	3169	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K	PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Missense_Mutation_p.E676K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E741K|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E736K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E676K	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1019					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E1019K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGGCTCAGTTCGAGAATGTTC	0.498																																						ENST00000263666.4																			1	Substitution - Missense(1)	p.E1019K(1)	skin(1)	breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(3055-3057)Gaa>Aaa		PDZ domain containing ring finger 3		C	LYS/GLU	0,4406		0,0,2203	242.0	242.0	242.0		3055	4.8	0.7	3	dbSNP_134	242	1,8599	1.2+/-3.3	0,1,4299	no	missense	PDZRN3	NM_015009.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1019/1067	73432662	1,13005	2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432662C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.3055G>A	3.37:g.73432662C>T	ENSP00000263666:p.Glu1019Lys					PDZRN3_ENST00000462146.2_Missense_Mutation_p.E676K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E741K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E676K|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E736K	p.E1019K	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	3169	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	1019					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.3055G>A	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312818	0.40895	0.0	1.16E-4	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	5.66	4.79	0.61399	.	0.211072	0.48286	D	0.000192	T	0.82195	0.4984	M	0.66939	2.045	0.58432	D	0.999996	D;D;D;D	0.61080	0.981;0.969;0.989;0.969	P;B;P;B	0.52856	0.651;0.306;0.711;0.306	D	0.84308	0.0509	10	0.72032	D	0.01	.	13.8131	0.63274	0.0:0.9261:0.0:0.0739	.	741;736;736;1019	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	K	1019;741;676;676;736	ENSP00000263666:E1019K;ENSP00000442026:E741K;ENSP00000418168:E676K;ENSP00000418484:E676K;ENSP00000418624:E736K	ENSP00000263666:E1019K	E	-	1	0	PDZRN3	73515352	1.000000	0.71417	0.694000	0.30210	0.003000	0.03518	5.842000	0.69417	1.385000	0.46445	0.655000	0.94253	GAA		0.498	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		5	130	0	0	0	1	0	5	130				
PPP1R3F	89801	broad.mit.edu	37	X	49143521	49143521	+	Missense_Mutation	SNP	C	C	T	rs200780292		TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chrX:49143521C>T	ENST00000055335.6	+	4	2385	c.2369C>T	c.(2368-2370)gCg>gTg	p.A790V	PPP1R3F_ENST00000376188.1_Missense_Mutation_p.A444V|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.A444V|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.A461V|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.A444V	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	790					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CTGGTGCTTGCGCTGTGCCTC	0.627																																						ENST00000055335.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27						c.(2368-2370)gCg>gTg		protein phosphatase 1, regulatory subunit 3F							60.0	46.0	51.0					X																	49143521		2203	4300	6503	SO:0001583	missense	89801					integral to membrane		g.chrX:49143521C>T		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.2369C>T	X.37:g.49143521C>T	ENSP00000055335:p.Ala790Val					PPP1R3F_ENST00000376188.1_Missense_Mutation_p.A444V|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.A461V|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.A444V|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.A444V	p.A790V	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN			4	2385	+	Ovarian(276;0.236)		790					A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	c.2369C>T	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	C	1.840	-0.467574	0.04476	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.56275	1.02;1.02;0.47;1.02;1.02	5.36	-1.46	0.08800	.	0.527289	0.17202	N	0.183061	T	0.23171	0.0560	N	0.08118	0	0.09310	N	1	B;B;B	0.12630	0.006;0.006;0.003	B;B;B	0.10450	0.005;0.005;0.001	T	0.30268	-0.9984	10	0.02654	T	1	-0.3008	9.4763	0.38873	0.0:0.3635:0.0:0.6365	.	461;475;790	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	V	444;461;790;444;444	ENSP00000420687:A444V;ENSP00000415548:A461V;ENSP00000055335:A790V;ENSP00000417535:A444V;ENSP00000365359:A444V	ENSP00000055335:A790V	A	+	2	0	PPP1R3F	49030465	0.002000	0.14202	0.469000	0.27204	0.984000	0.73092	-0.505000	0.06367	-0.569000	0.06030	-0.312000	0.09012	GCG		0.627	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		3	24	0	0	0	1	0	3	24				
PCDHB10	56126	broad.mit.edu	37	5	140574405	140574405	+	Silent	SNP	C	C	T			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr5:140574405C>T	ENST00000239446.4	+	1	2464	c.2280C>T	c.(2278-2280)ggC>ggT	p.G760G		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	760					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)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACGGGAGGCCCCGGGACCA	0.567																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(2278-2280)ggC>ggT									70.0	79.0	76.0					5																	140574405		2203	4300	6503	SO:0001819	synonymous_variant	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140574405C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.2280C>T	5.37:g.140574405C>T							p.G760G	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2464	+			760					Q96T99	Silent	SNP	ENST00000239446.4	37	c.2280C>T	CCDS4252.1																																																																																				0.567	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		13	81	0	0	0	1	0	13	81				
TCERG1	10915	broad.mit.edu	37	5	145843159	145843159	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr5:145843159C>T	ENST00000296702.5	+	5	976	c.938C>T	c.(937-939)gCc>gTc	p.A313V	TCERG1_ENST00000394421.2_Missense_Mutation_p.A313V	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	313	Thr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTTCAGTTGCCACGCCTACA	0.458																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(937-939)gCc>gTc		transcription elongation regulator 1							227.0	214.0	219.0					5																	145843159		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145843159C>T	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.938C>T	5.37:g.145843159C>T	ENSP00000296702:p.Ala313Val					TCERG1_ENST00000394421.2_Missense_Mutation_p.A313V	p.A313V	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	976	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	313			Thr-rich.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.938C>T	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.612186	0.46631	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	D;D	0.83837	-1.77;-1.77	5.16	5.16	0.70880	.	0.111756	0.64402	D	0.000007	T	0.76147	0.3947	L	0.29908	0.895	0.34279	D	0.681913	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.75286	-0.3371	10	0.29301	T	0.29	-1.9838	18.6523	0.91435	0.0:1.0:0.0:0.0	.	313;313;313	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	V	313	ENSP00000296702:A313V;ENSP00000377943:A313V	ENSP00000296702:A313V	A	+	2	0	TCERG1	145823352	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.294000	0.65687	2.392000	0.81423	0.563000	0.77884	GCC		0.458	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		4	154	0	0	0	1	0	4	154				
SYT9	143425	broad.mit.edu	37	11	7334941	7334941	+	Missense_Mutation	SNP	A	A	T			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr11:7334941A>T	ENST00000318881.6	+	3	1050	c.813A>T	c.(811-813)aaA>aaT	p.K271N	SYT9_ENST00000396716.2_Missense_Mutation_p.K239N	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	271	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GGAAAACAAAACACCAGACTA	0.423																																						ENST00000318881.6																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(811-813)aaA>aaT		synaptotagmin IX							169.0	169.0	169.0					11																	7334941		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7334941A>T	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.813A>T	11.37:g.7334941A>T	ENSP00000324419:p.Lys271Asn					SYT9_ENST00000396716.2_Missense_Mutation_p.K239N	p.K271N	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	3	1050	+			271			C2 1.			Missense_Mutation	SNP	ENST00000318881.6	37	c.813A>T	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.845115	0.71603	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.72051	-0.62;-0.62	6.17	5.03	0.67393	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.84179	0.5415	M	0.88105	2.93	0.52099	D	0.999941	D	0.76494	0.999	D	0.79784	0.993	D	0.84864	0.0821	9	.	.	.	.	8.0524	0.30585	0.8438:0.0:0.1562:0.0	.	271	Q86SS6	SYT9_HUMAN	N	239;271	ENSP00000379944:K239N;ENSP00000324419:K271N	.	K	+	3	2	SYT9	7291517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.067000	0.41461	1.119000	0.41883	0.533000	0.62120	AAA		0.423	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		6	122	0	0	0	1	0	6	122				
BMS1P20	96610	broad.mit.edu	37	22	22664128	22664128	+	RNA	SNP	G	G	A			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr22:22664128G>A	ENST00000426066.1	+	0	651					NR_027293.1				BMS1 pseudogene 20																		CTTGGAAGTGGCCAAATTTGA	0.433																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664128G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664128G>A								NR_027293.1						0	651	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.433	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	48	0	0	0	1	0	3	48				
ABCF2	10061	broad.mit.edu	37	7	150913092	150913092	+	Silent	SNP	G	G	A			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr7:150913092G>A	ENST00000287844.2	-	12	1471	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Silent_p.I454I	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	454	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGTTTTCGGATCATGCCAT	0.493																																						ENST00000287844.2																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24						c.(1360-1362)atC>atT		ATP-binding cassette, sub-family F (GCN20), member 2							115.0	101.0	106.0					7																	150913092		2203	4300	6503	SO:0001819	synonymous_variant	10061					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	g.chr7:150913092G>A	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.1362C>T	7.37:g.150913092G>A						ABCF2_ENST00000222388.2_Silent_p.I454I	p.I454I	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	12	1471	-			454			ABC transporter 2.		O60864|Q75MJ0|Q75MJ1|Q96TE8	Silent	SNP	ENST00000287844.2	37	c.1362C>T	CCDS5923.1																																																																																				0.493	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		12	96	0	0	0	1	0	12	96				
CEP152	22995	broad.mit.edu	37	15	49034156	49034156	+	Missense_Mutation	SNP	T	T	A			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr15:49034156T>A	ENST00000380950.2	-	25	4164	c.3977A>T	c.(3976-3978)gAt>gTt	p.D1326V	CEP152_ENST00000325747.5_Missense_Mutation_p.D1233V|CEP152_ENST00000399334.3_Missense_Mutation_p.D1270V	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1326					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTCTTTTCCATCATCCTGCAA	0.393																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(3976-3978)gAt>gTt		centrosomal protein 152kDa							167.0	155.0	158.0					15																	49034156		1891	4112	6003	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49034156T>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3977A>T	15.37:g.49034156T>A	ENSP00000370337:p.Asp1326Val					CEP152_ENST00000399334.3_Missense_Mutation_p.D1270V|CEP152_ENST00000325747.5_Missense_Mutation_p.D1233V	p.D1326V	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	25	4164	-		all_lung(180;0.0428)	1270					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.3977A>T	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.629880	0.46944	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.55760	0.59;0.5;0.58	5.93	4.81	0.61882	.	0.751400	0.13167	N	0.408619	T	0.51500	0.1678	L	0.46157	1.445	0.43555	D	0.995863	B;P;P	0.49559	0.302;0.925;0.925	B;B;P	0.44990	0.189;0.387;0.466	T	0.50448	-0.8827	10	0.72032	D	0.01	-3.9114	11.962	0.53013	0.0:0.0675:0.0:0.9325	.	1233;1326;1270	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	V	1326;1233;1270	ENSP00000370337:D1326V;ENSP00000321000:D1233V;ENSP00000382271:D1270V	ENSP00000321000:D1233V	D	-	2	0	CEP152	46821448	0.999000	0.42202	0.972000	0.41901	0.974000	0.67602	2.960000	0.49161	1.067000	0.40740	-0.256000	0.11100	GAT		0.393	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		4	133	0	0	0	1	0	4	133				
MCC	4163	broad.mit.edu	37	5	112824054	112824054	+	Missense_Mutation	SNP	C	C	T	rs199741976		TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr5:112824054C>T	ENST00000408903.3	-	1	473	c.58G>A	c.(58-60)Ggc>Agc	p.G20S		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.G20S(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ccgctgccgccgccgccgccg	0.756																																						ENST00000408903.3																			1	Substitution - Missense(1)	p.G20S(1)	central_nervous_system(1)	endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(58-60)Ggc>Agc		mutated in colorectal cancers							5.0	7.0	7.0					5																	112824054		1172	2822	3994	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824054C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.58G>A	5.37:g.112824054C>T	ENSP00000386227:p.Gly20Ser						p.G20S	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	1	473	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	548					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000408903.3	37	c.58G>A	CCDS43351.1	.	.	.	.	.	.	.	.	.	.	C	6.041	0.375835	0.11409	.	.	ENSG00000171444	ENST00000408903	T	0.34472	1.36	2.05	2.05	0.26809	.	.	.	.	.	T	0.46405	0.1391	.	.	.	0.25816	N	0.984338	D	0.89917	1.0	D	0.71184	0.972	T	0.22626	-1.0211	8	0.32370	T	0.25	.	4.5587	0.12149	0.0:0.7053:0.0:0.2947	.	20	P23508-2	.	S	20	ENSP00000386227:G20S	ENSP00000386227:G20S	G	-	1	0	MCC	112851953	0.002000	0.14202	0.063000	0.19743	0.016000	0.09150	1.079000	0.30766	1.100000	0.41517	0.491000	0.48974	GGC		0.756	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		3	3	0	0	0	1	0	3	3				
DVL2	1856	broad.mit.edu	37	17	7132319	7132319	+	Missense_Mutation	SNP	G	G	A	rs377201716		TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr17:7132319G>A	ENST00000005340.5	-	9	1285	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	DVL2_ENST00000575458.1_Missense_Mutation_p.R329W|DVL2_ENST00000574642.1_5'Flank	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	335	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CTCAGCACCCGCACAGCGTCA	0.532																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(1003-1005)Cgg>Tgg		dishevelled segment polarity protein 2		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	120.0	103.0	109.0		1003	5.2	1.0	17		109	0,8600		0,0,4300	no	missense	DVL2	NM_004422.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	335/737	7132319	1,13005	2203	4300	6503	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7132319G>A	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1003C>T	17.37:g.7132319G>A	ENSP00000005340:p.Arg335Trp					DVL2_ENST00000575458.1_Missense_Mutation_p.R329W	p.R335W	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			9	1285	-			335			PDZ.		D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.1003C>T	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751967	0.89753	2.27E-4	0.0	ENSG00000004975	ENST00000005340	T	0.18502	2.21	5.25	5.25	0.73442	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	0.992;1.0	P;D	0.81914	0.583;0.995	T	0.53858	-0.8379	10	0.87932	D	0	-11.133	16.3333	0.83050	0.0:0.0:1.0:0.0	.	329;335	B4DLQ0;O14641	.;DVL2_HUMAN	W	335	ENSP00000005340:R335W	ENSP00000005340:R335W	R	-	1	2	DVL2	7073043	1.000000	0.71417	0.996000	0.52242	0.921000	0.55340	3.808000	0.55598	2.469000	0.83416	0.555000	0.69702	CGG		0.532	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		3	48	0	0	0	1	0	3	48				
ZNF426	79088	broad.mit.edu	37	19	9645923	9645923	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr19:9645923G>A	ENST00000535489.1	-	2	394	c.58C>T	c.(58-60)Cat>Tat	p.H20Y	ZNF426_ENST00000589289.1_Missense_Mutation_p.H20Y|ZNF426_ENST00000593003.1_Intron|ZNF426_ENST00000253115.2_Missense_Mutation_p.H20Y			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	20					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTTTCTTCATGAAGGCAAACT	0.443																																						ENST00000535489.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(58-60)Cat>Tat		zinc finger protein 426							211.0	205.0	207.0					19																	9645923		2203	4300	6503	SO:0001583	missense	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9645923G>A	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.58C>T	19.37:g.9645923G>A	ENSP00000439017:p.His20Tyr					ZNF426_ENST00000589289.1_Missense_Mutation_p.H20Y|ZNF426_ENST00000593003.1_Intron|ZNF426_ENST00000253115.2_Missense_Mutation_p.H20Y	p.H20Y			Q9BUY5	ZN426_HUMAN			2	394	-			20					B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	c.58C>T	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	g	6.028	0.373617	0.11409	.	.	ENSG00000130818	ENST00000253115;ENST00000535489	T;T	0.05258	3.47;3.47	1.24	1.24	0.21308	.	.	.	.	.	T	0.03783	0.0107	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39921	-0.9590	9	0.41790	T	0.15	.	5.8633	0.18760	0.0:0.0:1.0:0.0	.	20	Q9BUY5	ZN426_HUMAN	Y	20	ENSP00000253115:H20Y;ENSP00000439017:H20Y	ENSP00000253115:H20Y	H	-	1	0	ZNF426	9506923	0.001000	0.12720	0.027000	0.17364	0.773000	0.43773	0.876000	0.28092	0.977000	0.38444	0.306000	0.20318	CAT		0.443	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		17	199	0	0	0	1	0	17	199				
PLCH1	23007	broad.mit.edu	37	3	155241774	155241774	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr3:155241774T>C	ENST00000340059.7	-	10	1345	c.1346A>G	c.(1345-1347)cAc>cGc	p.H449R	PLCH1_ENST00000334686.6_Missense_Mutation_p.H431R|PLCH1_ENST00000460012.1_Missense_Mutation_p.H431R|PLCH1_ENST00000447496.2_Missense_Mutation_p.H449R|PLCH1_ENST00000414191.1_Missense_Mutation_p.H431R|PLCH1_ENST00000494598.1_Missense_Mutation_p.H449R	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	449					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATCCCCAAGGTGATAAGGCAA	0.408																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(1291-1293)cAc>cGc		phospholipase C, eta 1							226.0	209.0	214.0					3																	155241774		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155241774T>C	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1346A>G	3.37:g.155241774T>C	ENSP00000345988:p.His449Arg					PLCH1_ENST00000340059.7_Missense_Mutation_p.H449R|PLCH1_ENST00000494598.1_Missense_Mutation_p.H449R|PLCH1_ENST00000447496.2_Missense_Mutation_p.H449R|PLCH1_ENST00000414191.1_Missense_Mutation_p.H431R|PLCH1_ENST00000334686.6_Missense_Mutation_p.H431R	p.H431R			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		11	1649	-			449			PI-PLC X-box.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.1292A>G	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.576726	0.45902	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.48	5.48	0.80851	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.382611	0.29838	N	0.011080	T	0.38878	0.1057	L	0.51422	1.61	0.37313	D	0.909219	B;B;B	0.32101	0.356;0.243;0.017	B;B;B	0.36922	0.236;0.119;0.004	T	0.46843	-0.9162	10	0.45353	T	0.12	.	8.2519	0.31732	0.0:0.1184:0.0:0.8816	.	431;449;449	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	R	449;431;449;449;431;431	ENSP00000419100:H449R;ENSP00000417502:H431R;ENSP00000402759:H449R;ENSP00000345988:H449R;ENSP00000335469:H431R;ENSP00000412977:H431R	ENSP00000335469:H431R	H	-	2	0	PLCH1	156724468	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.038000	0.41184	2.073000	0.62155	0.460000	0.39030	CAC		0.408	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		46	75	0	0	0	1	0	46	75				
FBXO33	254170	broad.mit.edu	37	14	39871700	39871700	+	Missense_Mutation	SNP	A	A	C			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr14:39871700A>C	ENST00000298097.7	-	2	952	c.615T>G	c.(613-615)ttT>ttG	p.F205L	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	205					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		CAAAAAGACTAAACTTCTGAA	0.299																																						ENST00000298097.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9						c.(613-615)ttT>ttG		F-box protein 33							81.0	75.0	77.0					14																	39871700		2203	4298	6501	SO:0001583	missense	254170							g.chr14:39871700A>C	BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"""F-boxes /  ""other"""""	19833	protein-coding gene	gene with protein product		609103	"""F-box only protein 33"""				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.615T>G	14.37:g.39871700A>C	ENSP00000298097:p.Phe205Leu					FBXO33_ENST00000554190.1_Intron	p.F205L	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)	2	952	-	Hepatocellular(127;0.213)		205					Q6PIR2|Q86TR2|Q86YE0	Missense_Mutation	SNP	ENST00000298097.7	37	c.615T>G	CCDS9677.1	.	.	.	.	.	.	.	.	.	.	A	0.914	-0.718207	0.03182	.	.	ENSG00000165355	ENST00000298097	T	0.00520	6.85	6.08	4.94	0.65067	.	0.059006	0.64402	D	0.000002	T	0.00241	0.0007	N	0.04203	-0.255	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.60772	-0.7197	9	.	.	.	-10.3648	5.9534	0.19259	0.6889:0.0:0.0758:0.2353	.	205	Q7Z6M2	FBX33_HUMAN	L	205	ENSP00000298097:F205L	.	F	-	3	2	FBXO33	38941451	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.753000	0.38359	1.128000	0.42052	0.533000	0.62120	TTT		0.299	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2			9	19	0	0	0	1	0	9	19				
CAPN9	10753	broad.mit.edu	37	1	230930958	230930958	+	Silent	SNP	G	G	A			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr1:230930958G>A	ENST00000271971.2	+	18	2033	c.1920G>A	c.(1918-1920)gcG>gcA	p.A640A	CAPN9_ENST00000366666.2_Silent_p.A577A|RP11-99J16__A.2_ENST00000412344.1_RNA|RP11-99J16__A.2_ENST00000428480.1_RNA|CAPN9_ENST00000480004.1_3'UTR|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000354537.1_Silent_p.A614A	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	640	Domain IV.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TCAGGTATGCGGATGAGGAGC	0.612																																						ENST00000354537.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1840-1842)gcG>gcA		calpain 9							60.0	51.0	54.0					1																	230930958		2203	4300	6503	SO:0001819	synonymous_variant	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230930958G>A	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.1920G>A	1.37:g.230930958G>A						CAPN9_ENST00000271971.2_Silent_p.A640A|CAPN9_ENST00000366666.2_Silent_p.A577A|CAPN9_ENST00000480004.1_3'UTR|RP11-99J16__A.2_ENST00000412344.1_RNA	p.A614A	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN			17	1924	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	640			Domain IV.|EF-hand 3.		B1APS1|B1AQI0|Q9NS74	Silent	SNP	ENST00000271971.2	37	c.1842G>A	CCDS1586.1																																																																																				0.612	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		3	22	0	0	0	1	0	3	22				
AWAT1	158833	broad.mit.edu	37	X	69458182	69458182	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chrX:69458182C>A	ENST00000374521.3	+	5	622	c.581C>A	c.(580-582)aCc>aAc	p.T194N		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	194					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						AACACCACCACCCTCATCCTC	0.602																																						ENST00000374521.3																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						c.(580-582)aCc>aAc		acyl-CoA wax alcohol acyltransferase 1							110.0	76.0	87.0					X																	69458182		2203	4300	6503	SO:0001583	missense	158833				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69458182C>A	BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.581C>A	X.37:g.69458182C>A	ENSP00000363645:p.Thr194Asn						p.T194N	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN			5	622	+			194					Q5JT21|Q6IEE4	Missense_Mutation	SNP	ENST00000374521.3	37	c.581C>A	CCDS35321.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407720	0.25378	.	.	ENSG00000204195	ENST00000374521	T	0.14516	2.5	4.93	3.09	0.35607	.	0.275241	0.30177	N	0.010232	T	0.13415	0.0325	M	0.64260	1.97	0.40254	D	0.978105	B	0.13145	0.007	B	0.20184	0.028	T	0.08953	-1.0697	10	0.19147	T	0.46	-2.0072	7.4484	0.27223	0.1829:0.7266:0.0:0.0905	.	194	Q58HT5	AWAT1_HUMAN	N	194	ENSP00000363645:T194N	ENSP00000363645:T194N	T	+	2	0	AWAT1	69374907	0.970000	0.33590	0.948000	0.38648	0.188000	0.23474	2.354000	0.44098	0.429000	0.26202	0.600000	0.82982	ACC		0.602	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579		8	16	1	0	0.000157383	1	0.00016281	8	16				
ARMCX3	51566	broad.mit.edu	37	X	100880328	100880328	+	Missense_Mutation	SNP	C	C	G	rs375844900		TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chrX:100880328C>G	ENST00000341189.4	+	5	1225	c.359C>G	c.(358-360)cCt>cGt	p.P120R	ARMCX3_ENST00000537169.1_Missense_Mutation_p.P120R|ARMCX3_ENST00000471229.2_Missense_Mutation_p.P120R|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3-AS1_ENST00000454228.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	120					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						GTTTTGTCCCCTCAAGAGCTA	0.512																																						ENST00000341189.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(358-360)cCt>cGt		armadillo repeat containing, X-linked 3							69.0	61.0	64.0					X																	100880328		2199	4291	6490	SO:0001583	missense	51566					integral to membrane	binding	g.chrX:100880328C>G	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.359C>G	X.37:g.100880328C>G	ENSP00000340672:p.Pro120Arg					ARMCX3_ENST00000537169.1_Missense_Mutation_p.P120R|ARMCX3_ENST00000471229.2_Missense_Mutation_p.P120R	p.P120R	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN			5	1225	+			120					Q53HC6|Q7LCF5|Q9NPE4	Missense_Mutation	SNP	ENST00000341189.4	37	c.359C>G	CCDS14489.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562443	0.45694	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	T;T	0.36520	1.25;1.25	4.08	4.08	0.47627	Armadillo-like helical (1);Armadillo-type fold (1);	0.114870	0.64402	D	0.000013	T	0.49253	0.1546	L	0.55990	1.75	0.44295	D	0.997161	D	0.61697	0.99	D	0.64410	0.925	T	0.41538	-0.9503	9	.	.	.	-13.9273	10.7694	0.46314	0.0:1.0:0.0:0.0	.	120	Q9UH62	ARMX3_HUMAN	R	120	ENSP00000340672:P120R;ENSP00000439032:P120R	.	P	+	2	0	ARMCX3	100766984	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.239000	0.51360	2.305000	0.77605	0.523000	0.50628	CCT		0.512	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		14	81	0	0	0	1	0	14	81				
AGER	177	broad.mit.edu	37	6	32150435	32150435	+	Silent	SNP	T	T	C			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr6:32150435T>C	ENST00000375076.4	-	7	833	c.732A>G	c.(730-732)ccA>ccG	p.P244P	XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000438221.2_Silent_p.P260P|AGER_ENST00000375055.2_Silent_p.P244P|AGER_ENST00000375065.5_Missense_Mutation_p.Q117R|AGER_ENST00000375069.3_Silent_p.P143P|AGER_ENST00000375067.3_Silent_p.P230P|AGER_ENST00000375070.3_Silent_p.P275P|RNF5_ENST00000427134.2_Intron	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	244	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						CTCCACCTTCTGGCTCCACCA	0.562																																						ENST00000375065.5																			0				breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						c.(349-351)cAg>cGg		advanced glycosylation end product-specific receptor							90.0	88.0	89.0					6																	32150435		1511	2708	4219	SO:0001819	synonymous_variant	177				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity	g.chr6:32150435T>C	M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.732A>G	6.37:g.32150435T>C						AGER_ENST00000375067.3_Silent_p.P230P|AGER_ENST00000375076.4_Silent_p.P244P|AGER_ENST00000375069.3_Silent_p.P143P|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375055.2_Silent_p.P244P|AGER_ENST00000375070.3_Silent_p.P275P|AGER_ENST00000438221.2_Silent_p.P260P	p.Q117R			Q15109	RAGE_HUMAN			4	359	-			0					A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Missense_Mutation	SNP	ENST00000375076.4	37	c.350A>G	CCDS4746.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.444244	0.43429	.	.	ENSG00000204305	ENST00000375065	T	0.64438	-0.1	5.06	-0.337	0.12654	.	.	.	.	.	T	0.43500	0.1250	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50767	-0.8789	6	0.87932	D	0	-10.266	0.6391	0.00807	0.1721:0.1882:0.1658:0.474	.	.	.	.	R	117	ENSP00000364206:Q117R	ENSP00000364206:Q117R	Q	-	2	0	AGER	32258413	0.968000	0.33430	0.997000	0.53966	0.860000	0.49131	-0.370000	0.07523	-0.179000	0.10654	0.460000	0.39030	CAG		0.562	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1	NM_001136		3	46	0	0	0	1	0	3	46				
JUN	3725	broad.mit.edu	37	1	59248091	59248091	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr1:59248091G>A	ENST00000371222.2	-	1	1694	c.652C>T	c.(652-654)Cag>Tag	p.Q218*	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	218					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	CGCGGGTGCTGCACGGGCATC	0.736			A		sarcoma																																	ENST00000371222.2				Dom	yes		1	1p32-p31	3725	A	jun oncogene			M			sarcoma		0				breast(2)|kidney(2)|lung(5)|skin(1)	10						c.(652-654)Cag>Tag		jun proto-oncogene	Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)						13.0	17.0	15.0					1																	59248091		2121	4212	6333	SO:0001587	stop_gained	3725				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr1:59248091G>A	AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"""basic leucine zipper proteins"""	6204	protein-coding gene	gene with protein product		165160	"""v-jun avian sarcoma virus 17 oncogene homolog"", ""v-jun sarcoma virus 17 oncogene homolog (avian)"", ""jun oncogene"""			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.652C>T	1.37:g.59248091G>A	ENSP00000360266:p.Gln218*						p.Q218*	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN			1	1694	-	all_cancers(7;8.55e-07)		218					Q6FHM7|Q96G93	Nonsense_Mutation	SNP	ENST00000371222.2	37	c.652C>T	CCDS610.1	.	.	.	.	.	.	.	.	.	.	G	46	12.765566	0.99694	.	.	ENSG00000177606	ENST00000371222	.	.	.	4.05	4.05	0.47172	.	0.167469	0.41396	U	0.000897	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-12.0293	16.4242	0.83809	0.0:0.0:1.0:0.0	.	.	.	.	X	218	.	ENSP00000360266:Q218X	Q	-	1	0	JUN	59020679	.	.	1.000000	0.80357	0.969000	0.65631	.	.	2.098000	0.63641	0.561000	0.74099	CAG		0.736	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1	NM_002228		4	16	0	0	0	1	0	4	16				
CSMD3	114788	broad.mit.edu	37	8	113237069	113237069	+	Silent	SNP	G	G	A			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr8:113237069G>A	ENST00000297405.5	-	71	11299	c.11055C>T	c.(11053-11055)aaC>aaT	p.N3685N	CSMD3_ENST00000455883.2_Silent_p.N3516N|CSMD3_ENST00000343508.3_Silent_p.N3645N|CSMD3_ENST00000352409.3_Silent_p.N3615N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3685						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N3685K(1)|p.N3645K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGACTTTGCGTTGGTGTCAT	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			2	Substitution - Missense(2)	p.N3685K(1)|p.N3645K(1)	lung(2)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(11053-11055)aaC>aaT		CUB and Sushi multiple domains 3							391.0	339.0	357.0					8																	113237069		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113237069G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.11055C>T	8.37:g.113237069G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Silent_p.N3516N|CSMD3_ENST00000352409.3_Silent_p.N3615N|CSMD3_ENST00000343508.3_Silent_p.N3645N	p.N3685N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			71	11299	-			3685					Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.11055C>T	CCDS6315.1																																																																																				0.438	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		50	114	0	0	0	1	0	50	114				
PHACTR1	221692	broad.mit.edu	37	6	13185173	13185173	+	Silent	SNP	C	C	A			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr6:13185173C>A	ENST00000379345.2	+	5	613	c.372C>A	c.(370-372)ccC>ccA	p.P124P	PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000379350.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	502					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AGCAGCTGCCCCTTCTCAAGC	0.582																																						ENST00000379345.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(370-372)ccC>ccA		phosphatase and actin regulator 1							73.0	73.0	73.0					6																	13185173		876	1991	2867	SO:0001819	synonymous_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13185173C>A	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379345.2:c.372C>A	6.37:g.13185173C>A						PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_Intron	p.P124P			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		5	613	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	64					A8K1V2|Q3MJ93|Q5JSJ2	Silent	SNP	ENST00000379345.2	37	c.372C>A																																																																																					0.582	PHACTR1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166420		13	44	1	0	4.7546e-09	1	5.09422e-09	13	44				
BRDT	676	broad.mit.edu	37	1	92430246	92430246	+	Silent	SNP	T	T	C			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr1:92430246T>C	ENST00000362005.3	+	4	673	c.255T>C	c.(253-255)aaT>aaC	p.N85N	BRDT_ENST00000370389.2_Silent_p.N12N|BRDT_ENST00000402388.1_Silent_p.N85N|BRDT_ENST00000394530.3_Intron|BRDT_ENST00000399546.2_Silent_p.N85N	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	85	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GCTTGGAGAATAAATATTATG	0.274																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(34-36)aaT>aaC		bromodomain, testis-specific							30.0	32.0	31.0					1																	92430246		2189	4266	6455	SO:0001819	synonymous_variant	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92430246T>C	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.255T>C	1.37:g.92430246T>C						BRDT_ENST00000399546.2_Silent_p.N85N|BRDT_ENST00000394530.3_Intron|BRDT_ENST00000402388.1_Silent_p.N85N|BRDT_ENST00000362005.3_Silent_p.N85N	p.N12N	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	3	960	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	85					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Silent	SNP	ENST00000362005.3	37	c.36T>C	CCDS735.1																																																																																				0.274	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		3	62	0	0	0	1	0	3	62				
FAM21A	387680	broad.mit.edu	37	10	47929869	47929869	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr10:47929869C>T	ENST00000358474.5	+	19	1850	c.1850C>T	c.(1849-1851)cCt>cTt	p.P617L		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN		617					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						TTTGGCTCTCCTCCCACATCT	0.453																																						ENST00000358474.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1849-1851)cCt>cTt		family with sequence similarity 21, member B							74.0	121.0	112.0					10																	47929869		654	2760	3414	SO:0001583	missense	55747				retrograde transport, endosome to Golgi	early endosome membrane|WASH complex		g.chr10:47929869C>T																												ENST00000358474.5:c.1850C>T	10.37:g.47929869C>T	ENSP00000351259:p.Pro617Leu						p.P617L	NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN			19	1850	+			617						Missense_Mutation	SNP	ENST00000358474.5	37	c.1850C>T	CCDS44379.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256847	0.39896	.	.	ENSG00000152726	ENST00000358474;ENST00000535219;ENST00000355876	.	.	.	2.46	2.46	0.29980	.	0.613300	0.16700	N	0.203168	T	0.69744	0.3145	M	0.76002	2.32	0.49687	D	0.999817	D;D	0.89917	0.995;1.0	D;D	0.74674	0.931;0.984	T	0.66540	-0.5898	9	0.28530	T	0.3	-12.929	8.5036	0.33173	0.0:1.0:0.0:0.0	.	617;705	Q5SNT6;B7ZME8	FA21B_HUMAN;.	L	617;454;608	.	ENSP00000348138:P608L	P	+	2	0	FAM21B	47449875	0.828000	0.29307	0.697000	0.30258	0.858000	0.48976	2.228000	0.42981	1.384000	0.46424	0.392000	0.25879	CCT		0.453	FAM21B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047871.2			3	69	0	0	0	1	0	3	69				
CD3E	916	broad.mit.edu	37	11	118175676	118175676	+	Silent	SNP	G	G	A			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr11:118175676G>A	ENST00000361763.4	+	2	300	c.9G>A	c.(7-9)tcG>tcA	p.S3S	CD3E_ENST00000528600.1_Silent_p.S3S	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	3					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	AGATGCAGTCGGGCACTCACT	0.488																																						ENST00000361763.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8						c.(7-9)tcG>tcA		CD3e molecule, epsilon (CD3-TCR complex)	Muromonab(DB00075)						182.0	190.0	187.0					11																	118175676		2200	4296	6496	SO:0001819	synonymous_variant	916				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity	g.chr11:118175676G>A	X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"""CD molecules"""	1674	protein-coding gene	gene with protein product		186830	"""CD3e antigen, epsilon polypeptide (TiT3 complex)"""				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.9G>A	11.37:g.118175676G>A						CD3E_ENST00000528600.1_Silent_p.S3S	p.S3S	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	2	300	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	3					A8K997	Silent	SNP	ENST00000361763.4	37	c.9G>A	CCDS31685.1																																																																																				0.488	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392120.1	NM_000733		4	120	0	0	0	1	0	4	120				
PDGFRA	5156	broad.mit.edu	37	4	55133522	55133522	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr4:55133522A>G	ENST00000257290.5	+	6	1157	c.826A>G	c.(826-828)Acg>Gcg	p.T276A	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	276	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GTACACTTTGACGGTCCCCGA	0.463			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(826-828)Acg>Gcg		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						94.0	96.0	95.0					4																	55133522		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55133522A>G	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.826A>G	4.37:g.55133522A>G	ENSP00000257290:p.Thr276Ala	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.T276A	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		6	1157	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		276			Ig-like C2-type 3.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.826A>G	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.160214	0.38119	.	.	ENSG00000134853	ENST00000257290	T	0.69435	-0.4	5.67	5.67	0.87782	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.529761	0.13620	U	0.374486	T	0.70254	0.3203	M	0.73962	2.25	0.80722	D	1	B;B	0.22541	0.053;0.071	B;B	0.31946	0.138;0.09	T	0.64141	-0.6477	10	0.18710	T	0.47	.	15.8997	0.79362	1.0:0.0:0.0:0.0	.	276;276	P16234-3;P16234	.;PGFRA_HUMAN	A	276	ENSP00000257290:T276A	ENSP00000257290:T276A	T	+	1	0	PDGFRA	54828279	1.000000	0.71417	0.478000	0.27316	0.983000	0.72400	5.843000	0.69424	2.165000	0.68154	0.260000	0.18958	ACG		0.463	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		3	57	0	0	0	1	0	3	57				
SSH3	54961	broad.mit.edu	37	11	67079325	67079325	+	Silent	SNP	C	C	T	rs373974857		TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr11:67079325C>T	ENST00000308127.4	+	14	2125	c.1947C>T	c.(1945-1947)agC>agT	p.S649S	SSH3_ENST00000376757.5_3'UTR|SSH3_ENST00000308298.7_Silent_p.S384S	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	649					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S649S(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GACAGGCCAGCGTGCATGACA	0.642																																						ENST00000308127.4																			1	Substitution - coding silent(1)	p.S649S(1)	lung(1)	NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1945-1947)agC>agT		slingshot protein phosphatase 3		C		1,4399		0,1,2199	68.0	56.0	60.0		1947	-1.9	1.0	11		60	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	SSH3	NM_017857.3		0,2,6493	TT,TC,CC		0.0116,0.0227,0.0154		649/660	67079325	2,12988	2200	4295	6495	SO:0001819	synonymous_variant	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67079325C>T	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1947C>T	11.37:g.67079325C>T						SSH3_ENST00000376757.5_3'UTR|SSH3_ENST00000308298.7_Silent_p.S384S	p.S649S	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		14	2125	+			649					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Silent	SNP	ENST00000308127.4	37	c.1947C>T	CCDS8157.1																																																																																				0.642	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		12	19	0	0	0	1	0	12	19				
RP5-884C9.2	0	broad.mit.edu	37	1	38562824	38562825	+	lincRNA	DEL	AG	AG	-	rs373568877		TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr1:38562824_38562825delAG	ENST00000432922.1	+	0	301																											ccacagaaacagagagagagag	0.5																																						ENST00000432922.1																			0																																																			0							g.chr1:38562824_38562825delAG																													1.37:g.38562834_38562835delAG														0	301	+									RNA	DEL	ENST00000432922.1	37																																																																																						0.500	RP5-884C9.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000001201.1			2	4						2	4	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109382805	109382805	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr2:109382805delT	ENST00000283195.6	+	20	5936	c.5810delT	c.(5809-5811)attfs	p.I1937fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1937					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CGTGGTGTGATTTTTGGCCAA	0.413																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(5809-5811)atfs		RAN binding protein 2							93.0	111.0	105.0					2																	109382805		2195	4282	6477	SO:0001589	frameshift_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109382805delT	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.5810delT	2.37:g.109382805delT	ENSP00000283195:p.Ile1937fs						p.I1937fs	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	5936	+			1937					Q13074|Q15280|Q53TE2|Q59FH7	Frame_Shift_Del	DEL	ENST00000283195.6	37	c.5810delT	CCDS2079.1																																																																																				0.413	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	493						7	493	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74378976	74378976	+	RNA	DEL	T	T	-	rs35591542		TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr16:74378976delT	ENST00000429810.2	-	0	1086																											ACCTCTTGAAttttttttttt	0.418																																						ENST00000429810.2																			0																																																			0							g.chr16:74378976delT																													16.37:g.74378976delT														0	1086	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.418	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			2	4						2	4	---	---	---	---
