#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
AKAP13	11214	broad.mit.edu	37	15	86198964	86198964	+	Missense_Mutation	SNP	A	A	G	rs555050692		TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr15:86198964A>G	ENST00000394518.2	+	11	4786	c.4691A>G	c.(4690-4692)cAc>cGc	p.H1564R	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.H1564R|RP11-815J21.4_ENST00000558980.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1564					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TTCCGGAGGCACAGCTGGGGG	0.562													A|||	1	0.000199681	0.0008	0.0	5008	,	,		17823	0.0		0.0	False		,,,				2504	0.0				Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(4690-4692)cAc>cGc		A kinase (PRKA) anchor protein 13							84.0	85.0	84.0					15																	86198964		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86198964A>G	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4691A>G	15.37:g.86198964A>G	ENSP00000378026:p.His1564Arg					AKAP13_ENST00000361243.2_Missense_Mutation_p.H1564R|RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000560579.1_3'UTR	p.H1564R	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			11	4786	+			1564					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.4691A>G	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.618159	0.87359	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000452008	T;T	0.36157	1.28;1.27	6.17	6.17	0.99709	.	.	.	.	.	T	0.60612	0.2282	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.997	T	0.61569	-0.7036	9	0.54805	T	0.06	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	1564;1564;1564	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	R	1564;1564;1563;1563;204	ENSP00000354718:H1564R;ENSP00000378026:H1564R	ENSP00000354718:H1564R	H	+	2	0	AKAP13	83999968	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.131000	0.89601	2.371000	0.80710	0.533000	0.62120	CAC		0.562	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		28	31	0	0	0	1	0	28	31				
DNM1P47	100216544	broad.mit.edu	37	15	102292809	102292809	+	RNA	SNP	C	C	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr15:102292809C>A	ENST00000561463.1	+	0	855									DNM1 pseudogene 47																		AACCTGCACTCGCGTGGGAAC	0.602																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102292809C>A	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292809C>A														0	855	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	40	1	0	0.000157383	1	0.000160805	3	40				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	284802							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	73	0	0	0	1	0	8	73				
SLC6A10P	386757	broad.mit.edu	37	16	32890950	32890950	+	RNA	SNP	A	A	G	rs151263854		TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr16:32890950A>G	ENST00000330048.5	-	0	3016					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		ATACACCCAGACCACCACCAC	0.637																																						ENST00000330048.5																			0																																																			386757							g.chr16:32890950A>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890950A>G								NR_003083.2						0	3016	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.637	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			4	56	0	0	0	1	0	4	56				
SCRIB	23513	broad.mit.edu	37	8	144891186	144891186	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:144891186G>A	ENST00000320476.3	-	15	1714	c.1708C>T	c.(1708-1710)Cat>Tat	p.H570Y	SCRIB_ENST00000377533.3_Missense_Mutation_p.H489Y|SCRIB_ENST00000356994.2_Missense_Mutation_p.H570Y	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	570	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCTGCGAAATGCACCGTGGGC	0.657																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1708-1710)Cat>Tat		scribbled planar cell polarity protein							41.0	41.0	41.0					8																	144891186		2202	4300	6502	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144891186G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1708C>T	8.37:g.144891186G>A	ENSP00000322938:p.His570Tyr					SCRIB_ENST00000377533.3_Missense_Mutation_p.H489Y|SCRIB_ENST00000320476.3_Missense_Mutation_p.H570Y	p.H570Y	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		15	1714	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		570			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.1708C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	g	12.84	2.059063	0.36373	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.78246	-1.16;-1.16;-1.16	4.79	4.79	0.61399	.	.	.	.	.	T	0.77032	0.4071	L	0.46157	1.445	0.54753	D	0.999989	P;P	0.48162	0.906;0.881	B;P	0.46172	0.309;0.506	T	0.80289	-0.1445	9	0.59425	D	0.04	.	16.8367	0.85958	0.0:0.0:1.0:0.0	.	570;570	Q14160;Q14160-3	SCRIB_HUMAN;.	Y	570;570;489	ENSP00000349486:H570Y;ENSP00000322938:H570Y;ENSP00000366756:H489Y	ENSP00000322938:H570Y	H	-	1	0	SCRIB	144963174	1.000000	0.71417	0.944000	0.38274	0.008000	0.06430	8.934000	0.92915	2.225000	0.72522	0.401000	0.26515	CAT		0.657	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		33	31	0	0	0	1	0	33	31				
NUP98	4928	broad.mit.edu	37	11	3723762	3723762	+	Missense_Mutation	SNP	T	T	C			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr11:3723762T>C	ENST00000324932.7	-	23	3863	c.3443A>G	c.(3442-3444)gAa>gGa	p.E1148G	NUP98_ENST00000355260.3_Missense_Mutation_p.E1148G|NUP98_ENST00000359171.4_Missense_Mutation_p.E1148G	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1165					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ATTTTCTAGTTCATGAGAGCC	0.458			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3442-3444)gAa>gGa		nucleoporin 98kDa							131.0	121.0	125.0					11																	3723762		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3723762T>C	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.3443A>G	11.37:g.3723762T>C	ENSP00000316032:p.Glu1148Gly					NUP98_ENST00000355260.3_Missense_Mutation_p.E1148G|NUP98_ENST00000359171.4_Missense_Mutation_p.E1148G	p.E1148G	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	23	3863	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1165					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.3443A>G	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.230529	0.39399	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260	.	.	.	5.35	5.35	0.76521	.	0.494558	0.22873	N	0.054611	T	0.27967	0.0689	N	0.21448	0.665	0.23162	N	0.998191	B;B	0.15930	0.015;0.005	B;B	0.12156	0.007;0.004	T	0.13176	-1.0519	9	0.22706	T	0.39	-10.1208	10.5993	0.45358	0.0:0.0783:0.0:0.9217	.	1148;1148	P52948-2;P52948-5	.;.	G	1148	.	ENSP00000316032:E1148G	E	-	2	0	NUP98	3680338	0.799000	0.28903	0.994000	0.49952	0.959000	0.62525	4.389000	0.59639	2.018000	0.59344	0.379000	0.24179	GAA		0.458	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		7	82	0	0	0	1	0	7	82				
TCAP	8557	broad.mit.edu	37	17	37822231	37822231	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr17:37822231G>A	ENST00000309889.2	+	2	1546	c.373G>A	c.(373-375)Ggc>Agc	p.G125S	TCAP_ENST00000578283.1_Missense_Mutation_p.G101S|PNMT_ENST00000581428.1_5'Flank|PNMT_ENST00000269582.2_5'Flank|PNMT_ENST00000394246.1_5'Flank			O15273	TELT_HUMAN	titin-cap	125					adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGCCCTGGGTGGCCAGTGTGT	0.662																																						ENST00000309889.2																			0				kidney(1)|lung(1)	2						c.(373-375)Ggc>Agc		titin-cap							42.0	41.0	41.0					17																	37822231		2201	4299	6500	SO:0001583	missense	8557				adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding	g.chr17:37822231G>A	AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"""19 kDa sarcomeric protein"""	604488	"""limb girdle muscular dystrophy 2G (autosomal recessive)"", ""titin-cap (telethonin)"""	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.373G>A	17.37:g.37822231G>A	ENSP00000312624:p.Gly125Ser					TCAP_ENST00000578283.1_Missense_Mutation_p.G101S	p.G125S			O15273	TELT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	1546	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		125					Q96L27	Missense_Mutation	SNP	ENST00000309889.2	37	c.373G>A	CCDS11342.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011207	0.54361	.	.	ENSG00000173991	ENST00000309889	D	0.89485	-2.52	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.90628	0.7061	L	0.29908	0.895	0.58432	D	0.999999	D	0.76494	0.999	D	0.72982	0.979	D	0.91387	0.5132	10	0.87932	D	0	-28.1079	14.258	0.66065	0.0:0.1494:0.8506:0.0	.	125	O15273	TELT_HUMAN	S	125	ENSP00000312624:G125S	ENSP00000312624:G125S	G	+	1	0	TCAP	35075757	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.544000	0.60691	2.695000	0.91970	0.462000	0.41574	GGC		0.662	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256942.1	NM_003673		15	38	0	0	0	1	0	15	38				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				RP11-156P1.3_ENST00000575173.1_RNA|LRRC37A17P_ENST00000570478.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			4	84	0	0	0	1	0	4	84				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	51	0	0	0	1	0	4	51				
MST1L	11223	broad.mit.edu	37	1	17084968	17084968	+	RNA	SNP	G	G	C	rs2761533		TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr1:17084968G>C	ENST00000455405.2	-	0	220							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.R472G(1)|p.R503G(1)									CACCGATTCCGCAAGCTGACT	0.617																																						ENST00000455405.2																			2	Substitution - Missense(2)	p.R472G(1)|p.R503G(1)	prostate(2)																																																11223							g.chr1:17084968G>C	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084968G>C														0	220	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	11.51	1.661479	0.29515	.	.	ENSG00000186715	ENST00000389184;ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.38778	N	0.001564	T	0.61362	0.2341	.	.	.	.	.	.	B;D	0.55800	0.436;0.973	B;P	0.62885	0.146;0.908	T	0.65582	-0.6133	6	0.72032	D	0.01	.	4.8114	0.13345	1.0E-4:0.0:0.6578:0.3421	rs2761533;rs3981969;rs3982160;rs4052591;rs11485892	503;503	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	G	472;503;503	.	ENSP00000439273:R503G	R	-	1	2	MST1P9	16957555	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	1.873000	0.39558	-0.000000	0.14550	0.000000	0.15137	CGG		0.617	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		3	28	0	0	0	1	0	3	28				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	40	0	0	0	1	0	3	40				
TCAP	8557	broad.mit.edu	37	17	37822179	37822179	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr17:37822179G>C	ENST00000309889.2	+	2	1494	c.321G>C	c.(319-321)gaG>gaC	p.E107D	TCAP_ENST00000578283.1_Missense_Mutation_p.E83D|PNMT_ENST00000581428.1_5'Flank|PNMT_ENST00000269582.2_5'Flank|PNMT_ENST00000394246.1_5'Flank			O15273	TELT_HUMAN	titin-cap	107					adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGGAGCGTGAGGACACCCCCA	0.662																																						ENST00000309889.2																			0				kidney(1)|lung(1)	2						c.(319-321)gaG>gaC		titin-cap							32.0	32.0	32.0					17																	37822179		2202	4299	6501	SO:0001583	missense	8557				adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding	g.chr17:37822179G>C	AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"""19 kDa sarcomeric protein"""	604488	"""limb girdle muscular dystrophy 2G (autosomal recessive)"", ""titin-cap (telethonin)"""	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.321G>C	17.37:g.37822179G>C	ENSP00000312624:p.Glu107Asp					TCAP_ENST00000578283.1_Missense_Mutation_p.E83D	p.E107D			O15273	TELT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	1494	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		107					Q96L27	Missense_Mutation	SNP	ENST00000309889.2	37	c.321G>C	CCDS11342.1	.	.	.	.	.	.	.	.	.	.	G	6.781	0.513140	0.12944	.	.	ENSG00000173991	ENST00000309889	D	0.87334	-2.24	5.71	3.72	0.42706	.	0.185852	0.38111	N	0.001812	T	0.77191	0.4094	N	0.14661	0.345	0.36777	D	0.884141	B	0.25048	0.117	B	0.35655	0.207	T	0.70773	-0.4781	10	0.28530	T	0.3	-32.8346	7.5129	0.27583	0.3235:0.0:0.6765:0.0	.	107	O15273	TELT_HUMAN	D	107	ENSP00000312624:E107D	ENSP00000312624:E107D	E	+	3	2	TCAP	35075705	0.993000	0.37304	1.000000	0.80357	0.044000	0.14063	0.446000	0.21694	0.755000	0.32990	0.462000	0.41574	GAG		0.662	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256942.1	NM_003673		6	22	0	0	0	1	0	6	22				
SOX9	6662	broad.mit.edu	37	17	70117789	70117789	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr17:70117789G>A	ENST00000245479.2	+	1	629	c.257G>A	c.(256-258)tGg>tAg	p.W86*		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	86					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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 transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GGCTACGACTGGACGCTGGTG	0.652																																					Pancreas(42;83 1041 2320 35205 39456)	ENST00000245479.2																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26	GRCh37	CM971404	SOX9	M		c.(256-258)tGg>tAg		SRY (sex determining region Y)-box 9							50.0	35.0	40.0					17																	70117789		2202	4300	6502	SO:0001587	stop_gained	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70117789G>A	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.257G>A	17.37:g.70117789G>A	ENSP00000245479:p.Trp86*						p.W86*	NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		1	629	+		Colorectal(1115;0.245)	86					Q53Y80	Nonsense_Mutation	SNP	ENST00000245479.2	37	c.257G>A	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	G	41	8.778802	0.98950	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	.	.	.	4.24	4.24	0.50183	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6249	0.84967	0.0:0.0:1.0:0.0	.	.	.	.	X	86	.	ENSP00000245479:W86X	W	+	2	0	SOX9	67629384	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.577000	0.98196	1.917000	0.55516	0.491000	0.48974	TGG		0.652	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		4	1	0	0	0	1	0	4	1				
RP1L1	94137	broad.mit.edu	37	8	10468631	10468631	+	Missense_Mutation	SNP	C	C	T	rs144078596	byFrequency	TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:10468631C>T	ENST00000382483.3	-	4	3200	c.2977G>A	c.(2977-2979)Gac>Aac	p.D993N		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	993					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCCCAGGGTCCACCTCGGGG	0.642													C|||	17	0.00339457	0.0129	0.0	5008	,	,		15720	0.0		0.0	False		,,,				2504	0.0					ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(2977-2979)Gac>Aac		retinitis pigmentosa 1-like 1		C	ASN/ASP	25,3741		0,25,1858	47.0	51.0	50.0		2977	3.8	0.3	8	dbSNP_134	50	1,8185		0,1,4092	yes	missense	RP1L1	NM_178857.5	23	0,26,5950	TT,TC,CC		0.0122,0.6638,0.2175	probably-damaging	993/2401	10468631	26,11926	1883	4093	5976	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10468631C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2977G>A	8.37:g.10468631C>T	ENSP00000371923:p.Asp993Asn						p.D993N	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3200	-			993					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.2977G>A	CCDS43708.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	11.59	1.683576	0.29872	0.006638	1.22E-4	ENSG00000183638	ENST00000382483	T	0.06371	3.31	4.73	3.83	0.44106	.	1.052620	0.07606	N	0.924514	T	0.04318	0.0119	L	0.32530	0.975	0.09310	N	1	P	0.44090	0.826	B	0.39152	0.292	T	0.37502	-0.9703	10	0.66056	D	0.02	-11.3924	7.2386	0.26084	0.1694:0.7412:0.0:0.0894	.	993	A6NKC6	.	N	993	ENSP00000371923:D993N	ENSP00000371923:D993N	D	-	1	0	RP1L1	10506041	0.009000	0.17119	0.262000	0.24481	0.050000	0.14768	0.552000	0.23376	1.159000	0.42565	0.462000	0.41574	GAC		0.642	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			23	62	0	0	0	1	0	23	62				
ABCD3	5825	broad.mit.edu	37	1	94884143	94884143	+	Splice_Site	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr1:94884143G>A	ENST00000370214.4	+	1	133	c.109G>A	c.(109-111)Ggt>Agt	p.G37S	ABCD3_ENST00000315713.5_Splice_Site_p.G37S|ABCD3_ENST00000536817.1_5'UTR|ABCD3_ENST00000394233.2_Splice_Site_p.G37S|ABCD3_ENST00000454898.2_Splice_Site_p.G37R	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	37	Interaction with PEX19.|Targeting to peroxisomes.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		CGGCCTGCACGGGTAAGAAGG	0.701																																						ENST00000370214.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.e1+1		ATP-binding cassette, sub-family D (ALD), member 3							14.0	14.0	14.0					1																	94884143		2196	4292	6488	SO:0001630	splice_region_variant	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94884143G>A	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.110+1G>A	1.37:g.94884143G>A						ABCD3_ENST00000536817.1_5'UTR|ABCD3_ENST00000454898.2_Splice_Site_p.G37_splice|ABCD3_ENST00000394233.2_Splice_Site_p.G37_splice|ABCD3_ENST00000315713.5_Splice_Site_p.G37_splice	p.G37_splice	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	1	133	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	37			Interaction with PEX19.|Targeting to peroxisomes.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Splice_Site	SNP	ENST00000370214.4	37	c.110_splice	CCDS749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.014|5.014	0.188187|0.188187	0.09547|0.09547	.|.	.|.	ENSG00000117528|ENSG00000117528	ENST00000454898|ENST00000394233;ENST00000370214;ENST00000315713	D|D;D;D	0.95171|0.99136	-3.63|-3.13;-3.21;-5.47	4.09|4.09	2.19|2.19	0.27852|0.27852	.|.	0.594242|0.594242	0.15978|0.15978	N|N	0.235450|0.235450	D|D	0.86356|0.86356	0.5913|0.5913	N|N	0.02539|0.02539	-0.55|-0.55	0.80722|0.80722	D|D	1|1	B|B;B;B	0.02656|0.31989	0.0|0.35;0.006;0.003	B|B;B;B	0.01281|0.20577	0.0|0.03;0.0;0.001	D|D	0.84062|0.84062	0.0375|0.0375	10|10	0.11794|0.08381	T|T	0.64|0.77	-5.6528|-5.6528	7.6496|7.6496	0.28340|0.28340	0.2061:0.0:0.7939:0.0|0.2061:0.0:0.7939:0.0	.|.	37|37;37;37	E7EUE1|P28288-2;P28288;P28288-3	.|.;ABCD3_HUMAN;.	R|S	37|37	ENSP00000403357:G37R|ENSP00000377780:G37S;ENSP00000359233:G37S;ENSP00000326880:G37S	ENSP00000403357:G37R|ENSP00000326880:G37S	G|G	+|+	1|1	0|0	ABCD3|ABCD3	94656731|94656731	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.220000|0.220000	0.24768|0.24768	0.967000|0.967000	0.29344|0.29344	0.488000|0.488000	0.27723|0.27723	0.484000|0.484000	0.47621|0.47621	GGG|GGT		0.701	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858	Missense_Mutation	3	18	0	0	0	1	0	3	18				
SCRIB	23513	broad.mit.edu	37	8	144890795	144890795	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:144890795G>A	ENST00000320476.3	-	15	2105	c.2099C>T	c.(2098-2100)tCt>tTt	p.S700F	SCRIB_ENST00000377533.3_Missense_Mutation_p.S619F|SCRIB_ENST00000356994.2_Missense_Mutation_p.S700F	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	700	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.S700F(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGAGGGCGCAGAAACCACGGC	0.652																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			1	Substitution - Missense(1)	p.S700F(1)	pancreas(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(2098-2100)tCt>tTt		scribbled planar cell polarity protein							153.0	131.0	138.0					8																	144890795		2203	4300	6503	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144890795G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2099C>T	8.37:g.144890795G>A	ENSP00000322938:p.Ser700Phe					SCRIB_ENST00000377533.3_Missense_Mutation_p.S619F|SCRIB_ENST00000320476.3_Missense_Mutation_p.S700F	p.S700F	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		15	2105	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		700			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.2099C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	g	12.91	2.079560	0.36662	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539;ENST00000531942	T;T;T;T	0.37915	1.4;1.37;1.17;1.82	4.2	4.2	0.49525	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.21550	0.0519	N	0.08118	0	0.20074	N	0.999939	P;P	0.42296	0.666;0.775	B;B	0.38056	0.202;0.264	T	0.11916	-1.0568	9	0.72032	D	0.01	.	13.6545	0.62330	0.0:0.0:1.0:0.0	.	700;700	Q14160;Q14160-3	SCRIB_HUMAN;.	F	700;700;619;69;18	ENSP00000349486:S700F;ENSP00000322938:S700F;ENSP00000366756:S619F;ENSP00000433546:S18F	ENSP00000322938:S700F	S	-	2	0	SCRIB	144962783	0.101000	0.21875	0.009000	0.14445	0.059000	0.15707	1.526000	0.35964	2.074000	0.62210	0.401000	0.26515	TCT		0.652	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		25	21	0	0	0	1	0	25	21				
DOCK7	85440	broad.mit.edu	37	1	63042971	63042971	+	Missense_Mutation	SNP	C	C	G			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr1:63042971C>G	ENST00000340370.5	-	18	2091	c.2074G>C	c.(2074-2076)Gaa>Caa	p.E692Q	DOCK7_ENST00000251157.5_Missense_Mutation_p.E692Q	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	692	DHR-1.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GGTGGTTTTTCCAATGAGACT	0.368																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(2074-2076)Gaa>Caa		dedicator of cytokinesis 7							73.0	72.0	72.0					1																	63042971		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63042971C>G		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.2074G>C	1.37:g.63042971C>G	ENSP00000340742:p.Glu692Gln					DOCK7_ENST00000340370.5_Missense_Mutation_p.E692Q	p.E692Q	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			18	2107	-			692			DHR-1.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.2074G>C	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655116	0.88056	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.14766	2.48;2.48	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.41050	0.1142	M	0.80982	2.52	0.80722	D	1	D;P;P;D	0.63880	0.987;0.848;0.923;0.993	D;P;P;D	0.65573	0.936;0.69;0.781;0.936	T	0.31280	-0.9949	10	0.72032	D	0.01	.	19.0274	0.92937	0.0:1.0:0.0:0.0	.	692;692;692;692	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.	Q	692	ENSP00000251157:E692Q;ENSP00000340742:E692Q	ENSP00000251157:E692Q	E	-	1	0	DOCK7	62815559	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	7.651000	0.83577	2.729000	0.93468	0.467000	0.42956	GAA		0.368	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		42	53	0	0	0	1	0	42	53				
MAML1	9794	broad.mit.edu	37	5	179193271	179193271	+	Silent	SNP	G	G	T			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr5:179193271G>T	ENST00000292599.3	+	2	1523	c.1260G>T	c.(1258-1260)ccG>ccT	p.P420P	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCCACCCCGGCACCAGCCC	0.652																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1258-1260)ccG>ccT		mastermind-like 1 (Drosophila)							62.0	76.0	71.0					5																	179193271		2203	4300	6503	SO:0001819	synonymous_variant	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179193271G>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1260G>T	5.37:g.179193271G>T						MAML1_ENST00000503050.1_3'UTR	p.P420P	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1523	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	420						Silent	SNP	ENST00000292599.3	37	c.1260G>T	CCDS34315.1																																																																																				0.652	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		4	104	1	0	0.00024832	1	0.00024832	4	104				
WHSC1	7468	broad.mit.edu	37	4	1918661	1918661	+	Missense_Mutation	SNP	G	G	T			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr4:1918661G>T	ENST00000382895.3	+	6	1255	c.824G>T	c.(823-825)tGg>tTg	p.W275L	WHSC1_ENST00000398261.1_Missense_Mutation_p.W275L|WHSC1_ENST00000503128.1_Missense_Mutation_p.W275L|WHSC1_ENST00000514045.1_Missense_Mutation_p.W275L|WHSC1_ENST00000420906.2_Missense_Mutation_p.W275L|WHSC1_ENST00000382891.5_Missense_Mutation_p.W275L|WHSC1_ENST00000508803.1_Missense_Mutation_p.W275L|WHSC1_ENST00000382892.2_Missense_Mutation_p.W275L	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	275	PWWP 1. {ECO:0000255|PROSITE- ProRule:PRU00162}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GAAAGAGCTTGGATATTTGAG	0.408			T	IGH@	MM																																	ENST00000503128.1				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(823-825)tGg>tTg		Wolf-Hirschhorn syndrome candidate 1							83.0	87.0	86.0					4																	1918661		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1918661G>T	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.824G>T	4.37:g.1918661G>T	ENSP00000372351:p.Trp275Leu					WHSC1_ENST00000508803.1_Missense_Mutation_p.W275L|WHSC1_ENST00000420906.2_Missense_Mutation_p.W275L|WHSC1_ENST00000398261.1_Missense_Mutation_p.W275L|WHSC1_ENST00000514045.1_Missense_Mutation_p.W275L|WHSC1_ENST00000382891.5_Missense_Mutation_p.W275L|WHSC1_ENST00000382892.2_Missense_Mutation_p.W275L|WHSC1_ENST00000382895.3_Missense_Mutation_p.W275L	p.W275L			O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	4	1031	+		all_epithelial(65;1.34e-05)	275			PWWP 1.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.824G>T	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449241	0.84101	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	T;T;T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.25	5.25	0.73442	PWWP (3);	0.000000	0.53938	D	0.000041	D	0.87160	0.6108	M	0.65320	2	0.80722	D	1	D;D;D;D	0.89917	1.0;0.964;1.0;1.0	D;P;D;D	0.87578	0.998;0.703;0.998;0.997	D	0.87886	0.2681	10	0.87932	D	0	.	19.0434	0.93011	0.0:0.0:1.0:0.0	.	275;275;275;275	O96028-3;O96028;O96028-5;O96028-6	.;NSD2_HUMAN;.;.	L	275	ENSP00000423972:W275L;ENSP00000421681:W275L;ENSP00000372347:W275L;ENSP00000372348:W275L;ENSP00000399251:W275L;ENSP00000372351:W275L;ENSP00000425761:W275L;ENSP00000422878:W275L;ENSP00000381311:W275L	ENSP00000308780:W275L	W	+	2	0	WHSC1	1888459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.755000	0.68750	2.717000	0.92951	0.655000	0.94253	TGG		0.408	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		12	85	1	0	2.27111e-07	1	2.37205e-07	12	85				
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	191						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(571-573)atT>atC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296167A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.573T>C	17.37:g.39296167A>G							p.I191I	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	572	-			187					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.573T>C	CCDS54125.1																																																																																				0.627	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			4	7	0	0	0	1	0	4	7				
SPDL1	54908	broad.mit.edu	37	5	169025544	169025544	+	Missense_Mutation	SNP	A	A	G			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr5:169025544A>G	ENST00000265295.4	+	9	1376	c.1097A>G	c.(1096-1098)tAt>tGt	p.Y366C		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		GATAACACCTATTATACAGAT	0.343																																						ENST00000265295.4																			0											c.(1096-1098)tAt>tGt		spindle apparatus coiled-coil protein 1							156.0	162.0	160.0					5																	169025544		2203	4300	6503	SO:0001583	missense	54908							g.chr5:169025544A>G	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1097A>G	5.37:g.169025544A>G	ENSP00000265295:p.Tyr366Cys						p.Y366C	NM_017785.4	NP_060255.3					9	1376	+									Missense_Mutation	SNP	ENST00000265295.4	37	c.1097A>G	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.578880	0.86645	.	.	ENSG00000040275	ENST00000265295;ENST00000274631	T	0.36520	1.25	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.60274	0.2256	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.961;0.999;0.999	T	0.60576	-0.7236	10	0.46703	T	0.11	-14.0864	16.2332	0.82358	1.0:0.0:0.0:0.0	.	288;267;366	B4E393;Q96EA4-2;Q96EA4	.;.;SPDLY_HUMAN	C	366;267	ENSP00000265295:Y366C	ENSP00000265295:Y366C	Y	+	2	0	CCDC99	168958122	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.857000	0.62939	2.233000	0.73108	0.523000	0.50628	TAT		0.343	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		47	50	0	0	0	1	0	47	50				
RP1L1	94137	broad.mit.edu	37	8	10467864	10467864	+	Silent	SNP	C	C	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:10467864C>A	ENST00000382483.3	-	4	3967	c.3744G>T	c.(3742-3744)ggG>ggT	p.G1248G		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1248					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTTCCAGATCCCCTGGGCTCT	0.552																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(3742-3744)ggG>ggT		retinitis pigmentosa 1-like 1							65.0	68.0	67.0					8																	10467864		1989	4155	6144	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10467864C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3744G>T	8.37:g.10467864C>A							p.G1248G	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3967	-			1248					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.3744G>T	CCDS43708.1																																																																																				0.552	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			23	43	1	0	4.26978e-12	1	4.66697e-12	23	43				
RP1L1	94137	broad.mit.edu	37	8	10467982	10467982	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:10467982C>T	ENST00000382483.3	-	4	3849	c.3626G>A	c.(3625-3627)gGc>gAc	p.G1209D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1209					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCCCCTGAGCCTCCAGAGCC	0.607																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(3625-3627)gGc>gAc		retinitis pigmentosa 1-like 1							33.0	37.0	36.0					8																	10467982		2084	4206	6290	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10467982C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3626G>A	8.37:g.10467982C>T	ENSP00000371923:p.Gly1209Asp						p.G1209D	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3849	-			1209					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.3626G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700214	0.48307	.	.	ENSG00000183638	ENST00000382483	T	0.14640	2.49	4.74	3.87	0.44632	.	0.000000	0.35615	N	0.003081	T	0.24851	0.0603	L	0.32530	0.975	0.42507	D	0.992958	D	0.76494	0.999	D	0.75484	0.986	T	0.01884	-1.1254	10	0.87932	D	0	-23.6406	11.7518	0.51853	0.0:0.9151:0.0:0.0849	.	1209	A6NKC6	.	D	1209	ENSP00000371923:G1209D	ENSP00000371923:G1209D	G	-	2	0	RP1L1	10505392	0.991000	0.36638	0.205000	0.23548	0.044000	0.14063	3.786000	0.55431	1.202000	0.43218	0.561000	0.74099	GGC		0.607	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			15	30	0	0	0	1	0	15	30				
SCRIB	23513	broad.mit.edu	37	8	144892898	144892898	+	Silent	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:144892898G>A	ENST00000320476.3	-	12	1368	c.1362C>T	c.(1360-1362)ccC>ccT	p.P454P	MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Silent_p.P373P|SCRIB_ENST00000356994.2_Silent_p.P454P	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	454	Sufficient for targeting to adherens junction and to inhibit cell proliferation.		P -> S (in NTD; protein interactions not affected by the mutation; shows reduced protein localization to the cell membrane). {ECO:0000269|PubMed:22095531}.		activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CATCACCTATGGGGGCCTCCA	0.662																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1360-1362)ccC>ccT		scribbled planar cell polarity protein							90.0	88.0	88.0					8																	144892898		2203	4300	6503	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144892898G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1362C>T	8.37:g.144892898G>A						SCRIB_ENST00000377533.3_Silent_p.P373P|SCRIB_ENST00000320476.3_Silent_p.P454P	p.P454P	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		12	1368	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		454			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.1362C>T	CCDS6411.1																																																																																				0.662	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		58	65	0	0	0	1	0	58	65				
TCAP	8557	broad.mit.edu	37	17	37822068	37822068	+	Silent	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr17:37822068G>A	ENST00000309889.2	+	2	1383	c.210G>A	c.(208-210)cgG>cgA	p.R70R	TCAP_ENST00000578283.1_Intron|PNMT_ENST00000581428.1_5'Flank|PNMT_ENST00000269582.2_5'Flank|PNMT_ENST00000394246.1_5'Flank			O15273	TELT_HUMAN	titin-cap	70			R -> W (in CMD1N). {ECO:0000269|PubMed:16352453}.		adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGATGATGCGGATGGGCATCC	0.662																																						ENST00000309889.2																			0				kidney(1)|lung(1)	2						c.(208-210)cgG>cgA		titin-cap							27.0	25.0	26.0					17																	37822068		2200	4299	6499	SO:0001819	synonymous_variant	8557				adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding	g.chr17:37822068G>A	AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"""19 kDa sarcomeric protein"""	604488	"""limb girdle muscular dystrophy 2G (autosomal recessive)"", ""titin-cap (telethonin)"""	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.210G>A	17.37:g.37822068G>A						TCAP_ENST00000578283.1_Intron	p.R70R			O15273	TELT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	1383	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		70		R -> W (in CMD1N).			Q96L27	Silent	SNP	ENST00000309889.2	37	c.210G>A	CCDS11342.1																																																																																				0.662	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256942.1	NM_003673		8	6	0	0	0	1	0	8	6				
PPARD	5467	broad.mit.edu	37	6	35387985	35387985	+	Missense_Mutation	SNP	A	A	G			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr6:35387985A>G	ENST00000311565.4	+	5	561	c.212A>G	c.(211-213)aAc>aGc	p.N71S	PPARD_ENST00000418635.2_Intron|PPARD_ENST00000448077.2_Missense_Mutation_p.N32S|PPARD_ENST00000337400.2_Missense_Mutation_p.N71S|PPARD_ENST00000540939.1_Intron|PPARD_ENST00000360694.3_Missense_Mutation_p.N71S|PPARD_ENST00000444397.1_Missense_Mutation_p.N71S	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	71					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GGCAGCCTCAACATGGAGTGC	0.652																																						ENST00000311565.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(211-213)aAc>aGc		peroxisome proliferator-activated receptor delta	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						74.0	64.0	67.0					6																	35387985		2203	4300	6503	SO:0001583	missense	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35387985A>G	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.212A>G	6.37:g.35387985A>G	ENSP00000310928:p.Asn71Ser					PPARD_ENST00000418635.2_Intron|PPARD_ENST00000540939.1_Intron|PPARD_ENST00000444397.1_Missense_Mutation_p.N71S|PPARD_ENST00000360694.3_Missense_Mutation_p.N71S|PPARD_ENST00000448077.2_Missense_Mutation_p.N32S|PPARD_ENST00000337400.2_Missense_Mutation_p.N71S	p.N71S	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN			5	561	+			71					A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	c.212A>G	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.587711	0.46110	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000444397;ENST00000311565;ENST00000337400	D;D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92;-3.92	5.15	5.15	0.70609	Zinc finger, nuclear hormone receptor-type (2);	0.154373	0.64402	D	0.000016	D	0.85474	0.5705	N	0.16656	0.425	0.80722	D	1	B;B;B	0.11235	0.003;0.001;0.004	B;B;B	0.08055	0.002;0.001;0.003	T	0.81767	-0.0782	10	0.24483	T	0.36	.	15.1482	0.72674	1.0:0.0:0.0:0.0	.	32;71;71	B7Z3W1;Q03181;F1D8S7	.;PPARD_HUMAN;.	S	32;71;71;71;71	ENSP00000414372:N32S;ENSP00000353916:N71S;ENSP00000410837:N71S;ENSP00000310928:N71S;ENSP00000337063:N71S	ENSP00000310928:N71S	N	+	2	0	PPARD	35495963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.430000	0.52807	2.165000	0.68154	0.528000	0.53228	AAC		0.652	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		3	53	0	0	0	1	0	3	53				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72685542	72685542	+	RNA	SNP	G	G	A	rs2539086		TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr7:72685542G>A	ENST00000425256.1	-	0	116									GTF2I repeat domain containing 2 pseudogene 1																		ACGTTACCATGACAAAAGCAG	0.463																																						ENST00000425256.1																			0																																																			401375							g.chr7:72685542G>A	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72685542G>A								NR_002164.1						0	116	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.463	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		4	155	0	0	0	1	0	4	155				
SCRIB	23513	broad.mit.edu	37	8	144895531	144895531	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:144895531G>C	ENST00000320476.3	-	6	523	c.517C>G	c.(517-519)Ctg>Gtg	p.L173V	MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Missense_Mutation_p.L92V|SCRIB_ENST00000356994.2_Missense_Mutation_p.L173V	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	173	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGCTTGACCAGAAATGACAGG	0.642																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(517-519)Ctg>Gtg		scribbled planar cell polarity protein							70.0	71.0	71.0					8																	144895531		2203	4300	6503	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144895531G>C	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.517C>G	8.37:g.144895531G>C	ENSP00000322938:p.Leu173Val					SCRIB_ENST00000377533.3_Missense_Mutation_p.L92V|SCRIB_ENST00000320476.3_Missense_Mutation_p.L173V	p.L173V	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		6	523	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		173			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.517C>G	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735786	0.89482	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.34275	1.37;1.37;1.37	4.28	4.28	0.50868	.	.	.	.	.	T	0.63510	0.2517	M	0.83483	2.645	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.91635	0.999;0.98	T	0.71444	-0.4591	9	0.87932	D	0	.	16.0607	0.80836	0.0:0.0:1.0:0.0	.	173;173	Q14160;Q14160-3	SCRIB_HUMAN;.	V	173;173;92	ENSP00000349486:L173V;ENSP00000322938:L173V;ENSP00000366756:L92V	ENSP00000322938:L173V	L	-	1	2	SCRIB	144967519	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	6.256000	0.72473	2.069000	0.61940	0.563000	0.77884	CTG		0.642	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		29	55	0	0	0	1	0	29	55				
TCAP	8557	broad.mit.edu	37	17	37822170	37822170	+	Silent	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr17:37822170G>A	ENST00000309889.2	+	2	1485	c.312G>A	c.(310-312)gaG>gaA	p.E104E	TCAP_ENST00000578283.1_Silent_p.E80E|PNMT_ENST00000581428.1_5'Flank|PNMT_ENST00000269582.2_5'Flank|PNMT_ENST00000394246.1_5'Flank			O15273	TELT_HUMAN	titin-cap	104					adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCACCAAGGAGGAGCGTGAGG	0.662																																						ENST00000309889.2																			0				kidney(1)|lung(1)	2						c.(310-312)gaG>gaA		titin-cap							28.0	28.0	28.0					17																	37822170		2203	4299	6502	SO:0001819	synonymous_variant	8557				adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding	g.chr17:37822170G>A	AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"""19 kDa sarcomeric protein"""	604488	"""limb girdle muscular dystrophy 2G (autosomal recessive)"", ""titin-cap (telethonin)"""	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.312G>A	17.37:g.37822170G>A						TCAP_ENST00000578283.1_Silent_p.E80E	p.E104E			O15273	TELT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	1485	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		104					Q96L27	Silent	SNP	ENST00000309889.2	37	c.312G>A	CCDS11342.1																																																																																				0.662	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256942.1	NM_003673		5	19	0	0	0	1	0	5	19				
GPR156	165829	broad.mit.edu	37	3	119962585	119962585	+	Missense_Mutation	SNP	T	T	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr3:119962585T>A	ENST00000464295.1	-	3	580	c.135A>T	c.(133-135)ttA>ttT	p.L45F	GPR156_ENST00000315843.3_Missense_Mutation_p.L45F|GPR156_ENST00000461057.1_Missense_Mutation_p.L45F			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGACAGGAGATAATGAAGAGA	0.423																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(133-135)ttA>ttT		G protein-coupled receptor 156							132.0	118.0	122.0					3																	119962585		2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119962585T>A	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.135A>T	3.37:g.119962585T>A	ENSP00000417261:p.Leu45Phe					GPR156_ENST00000461057.1_Missense_Mutation_p.L45F|GPR156_ENST00000315843.3_Missense_Mutation_p.L45F	p.L45F			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	3	580	-			45					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.135A>T	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.464650	0.43736	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.26067	1.76;1.76;1.77	4.99	-1.78	0.07957	.	0.405345	0.20307	N	0.094908	T	0.21267	0.0512	N	0.19112	0.55	0.38380	D	0.94511	D;D	0.58268	0.982;0.982	P;P	0.53450	0.726;0.726	T	0.04053	-1.0981	9	.	.	.	-3.1498	10.4586	0.44565	0.0:0.6504:0.0:0.3496	.	45;45	E9PFZ4;Q8NFN8	.;GP156_HUMAN	F	45	ENSP00000417261:L45F;ENSP00000324553:L45F;ENSP00000418758:L45F	.	L	-	3	2	GPR156	121445275	0.932000	0.31603	0.966000	0.40874	0.998000	0.95712	-0.185000	0.09684	-0.537000	0.06290	0.529000	0.55759	TTA		0.423	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		20	7	0	0	0	1	0	20	7				
NUGGC	389643	broad.mit.edu	37	8	27918013	27918013	+	Missense_Mutation	SNP	G	G	A	rs563017713		TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:27918013G>A	ENST00000413272.2	-	8	1169	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	NUGGC_ENST00000341513.6_Missense_Mutation_p.R343W	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	343					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										CAGAAGCCCCGCTGGCAGGCT	0.552											OREG0018675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		19318	0.001		0.0	False		,,,				2504	0.0					ENST00000413272.2																			0											c.(1027-1029)Cgg>Tgg		nuclear GTPase, germinal center associated							52.0	54.0	53.0					8																	27918013		1948	4129	6077	SO:0001583	missense	389643							g.chr8:27918013G>A	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1027C>T	8.37:g.27918013G>A	ENSP00000408697:p.Arg343Trp		OREG0018675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	99	NUGGC_ENST00000341513.6_Missense_Mutation_p.R343W	p.R343W	NM_001010906.1	NP_001010906.1					8	1169	-								Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	c.1027C>T	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774709	0.70107	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.16324	2.35;2.36	5.67	2.65	0.31530	.	0.144521	0.44483	D	0.000444	T	0.36110	0.0955	M	0.63428	1.95	0.36557	D	0.87218	D	0.89917	1.0	D	0.73708	0.981	T	0.43686	-0.9376	10	0.66056	D	0.02	-16.6457	12.5903	0.56439	0.0:0.0:0.6193:0.3807	.	343	Q68CJ6	SLIP_HUMAN	W	343	ENSP00000408697:R343W;ENSP00000345031:R343W	ENSP00000345031:R343W	R	-	1	2	C8orf80	27973932	0.099000	0.21834	0.982000	0.44146	0.990000	0.78478	0.498000	0.22530	0.647000	0.30713	0.585000	0.79938	CGG		0.552	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		14	17	0	0	0	1	0	14	17				
SCRIB	23513	broad.mit.edu	37	8	144891006	144891006	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:144891006G>A	ENST00000320476.3	-	15	1894	c.1888C>T	c.(1888-1890)Cag>Tag	p.Q630*	SCRIB_ENST00000377533.3_Nonsense_Mutation_p.Q549*|SCRIB_ENST00000356994.2_Nonsense_Mutation_p.Q630*	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	630	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGCATGCCCTGCAGCAGAGCC	0.667																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1888-1890)Cag>Tag		scribbled planar cell polarity protein							84.0	90.0	88.0					8																	144891006		2203	4300	6503	SO:0001587	stop_gained	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144891006G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1888C>T	8.37:g.144891006G>A	ENSP00000322938:p.Gln630*					SCRIB_ENST00000377533.3_Nonsense_Mutation_p.Q549*|SCRIB_ENST00000320476.3_Nonsense_Mutation_p.Q630*	p.Q630*	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		15	1894	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		630			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Nonsense_Mutation	SNP	ENST00000320476.3	37	c.1888C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	g	39	7.547443	0.98352	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	16.5855	0.84727	0.0:0.0:1.0:0.0	.	.	.	.	X	630;630;549	.	ENSP00000322938:Q630X	Q	-	1	0	SCRIB	144962994	1.000000	0.71417	0.999000	0.59377	0.214000	0.24535	9.369000	0.97156	2.153000	0.67306	0.401000	0.26515	CAG		0.667	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		53	85	0	0	0	1	0	53	85				
ZKSCAN2	342357	broad.mit.edu	37	16	25264280	25264280	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr16:25264280G>C	ENST00000328086.7	-	3	1468	c.665C>G	c.(664-666)cCt>cGt	p.P222R		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	222					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGACCCAGCAGGAAGCCGTGT	0.493																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(664-666)cCt>cGt		zinc finger with KRAB and SCAN domains 2							156.0	154.0	155.0					16																	25264280		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25264280G>C	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.665C>G	16.37:g.25264280G>C	ENSP00000331626:p.Pro222Arg						p.P222R	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	3	1468	-			222					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.665C>G	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246960	0.22796	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.13657	2.57	5.62	5.62	0.85841	Krueppel-associated box (1);	0.945753	0.08821	N	0.888710	T	0.14570	0.0352	L	0.40543	1.245	0.09310	N	1	P;B	0.37276	0.589;0.435	B;B	0.35073	0.195;0.112	T	0.22556	-1.0213	10	0.22109	T	0.4	-0.549	15.1626	0.72795	0.0:0.0:1.0:0.0	.	222;222	Q63HK3-2;Q63HK3	.;ZKSC2_HUMAN	R	222	ENSP00000331626:P222R	ENSP00000331626:P222R	P	-	2	0	ZKSCAN2	25171781	0.180000	0.23148	0.025000	0.17156	0.039000	0.13416	2.536000	0.45693	2.643000	0.89663	0.655000	0.94253	CCT		0.493	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		4	157	0	0	0	1	0	4	157				
GOSR2	9570	broad.mit.edu	37	17	45012514	45012514	+	Silent	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr17:45012514G>A	ENST00000393456.2	+	5	513	c.456G>A	c.(454-456)agG>agA	p.R152R	GOSR2_ENST00000576910.2_Intron|RP11-156P1.2_ENST00000571841.1_Silent_p.R152R|GOSR2_ENST00000439730.2_Silent_p.R152R|GOSR2_ENST00000415811.2_Silent_p.R152R|GOSR2_ENST00000225567.4_Silent_p.R152R	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	152					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			ATGGACTGAGGACCCAGAGAC	0.463																																						ENST00000415811.2																			0				kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7						c.(454-456)agG>agA		golgi SNAP receptor complex member 2							140.0	135.0	136.0					17																	45012514		2203	4300	6503	SO:0001819	synonymous_variant	9570				cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity	g.chr17:45012514G>A	AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.456G>A	17.37:g.45012514G>A						RP11-156P1.2_ENST00000571841.1_Silent_p.R152R|GOSR2_ENST00000439730.2_Silent_p.R152R|GOSR2_ENST00000393456.2_Silent_p.R152R|GOSR2_ENST00000576910.2_Intron|GOSR2_ENST00000225567.4_Silent_p.R152R	p.R152R	NM_001012511.1	NP_001012529.1	O14653	GOSR2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.102)		5	511	+			152					D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Silent	SNP	ENST00000393456.2	37	c.456G>A	CCDS42355.1																																																																																				0.463	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1			39	54	0	0	0	1	0	39	54				
SCRIB	23513	broad.mit.edu	37	8	144886884	144886884	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:144886884G>A	ENST00000320476.3	-	21	2869	c.2863C>T	c.(2863-2865)Cct>Tct	p.P955S	SCRIB_ENST00000377533.3_Missense_Mutation_p.P874S|SCRIB_ENST00000356994.2_Missense_Mutation_p.P955S	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	955	Interaction with ARHGEF7.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGCTGGGAGGAAGAGGGCCC	0.697																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(2863-2865)Cct>Tct		scribbled planar cell polarity protein							23.0	23.0	23.0					8																	144886884		2198	4298	6496	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144886884G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2863C>T	8.37:g.144886884G>A	ENSP00000322938:p.Pro955Ser					SCRIB_ENST00000377533.3_Missense_Mutation_p.P874S|SCRIB_ENST00000320476.3_Missense_Mutation_p.P955S	p.P955S	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		21	2869	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		955			Interaction with ARHGEF7.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.2863C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	8.055	0.766866	0.15983	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	T;T;T	0.38401	1.14;1.14;1.14	3.79	0.348	0.16026	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.27933	0.0688	L	0.57536	1.79	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.10450	0.002;0.005	T	0.31024	-0.9958	9	0.16420	T	0.52	.	4.7128	0.12880	0.1021:0.1378:0.602:0.1581	.	955;955	Q14160;Q14160-3	SCRIB_HUMAN;.	S	955;955;874;324	ENSP00000349486:P955S;ENSP00000322938:P955S;ENSP00000366756:P874S	ENSP00000322938:P955S	P	-	1	0	SCRIB	144958872	0.000000	0.05858	0.002000	0.10522	0.125000	0.20455	-0.110000	0.10824	0.231000	0.21079	0.448000	0.29417	CCT		0.697	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		11	10	0	0	0	1	0	11	10				
EIF4G3	8672	broad.mit.edu	37	1	21226240	21226240	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr1:21226240G>A	ENST00000264211.8	-	10	1975	c.1781C>T	c.(1780-1782)tCa>tTa	p.S594L	EIF4G3_ENST00000536266.1_Missense_Mutation_p.S198L|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000602326.1_Missense_Mutation_p.S600L|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S600L|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S594L|EIF4G3_ENST00000537738.1_Missense_Mutation_p.S47L|EIF4G3_ENST00000374935.3_Missense_Mutation_p.S314L|EIF4G3_ENST00000544689.1_Missense_Mutation_p.S137L	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	594					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGTGGAGCCTGAATTAGCATC	0.423																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(1798-1800)tCa>tTa		eukaryotic translation initiation factor 4 gamma, 3							280.0	276.0	278.0					1																	21226240		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21226240G>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1781C>T	1.37:g.21226240G>A	ENSP00000264211:p.Ser594Leu					EIF4G3_ENST00000374935.3_Missense_Mutation_p.S314L|EIF4G3_ENST00000264211.8_Missense_Mutation_p.S594L|EIF4G3_ENST00000537738.1_Missense_Mutation_p.S47L|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S600L|EIF4G3_ENST00000544689.1_Missense_Mutation_p.S137L|EIF4G3_ENST00000536266.1_Missense_Mutation_p.S198L|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S594L|EIF4G3_ENST00000374933.3_5'UTR	p.S600L	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	14	2382	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	594					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.1799C>T	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774580	0.90108	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266;ENST00000374933;ENST00000544689	T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.45	5.45	0.79879	.	0.224693	0.38959	N	0.001510	T	0.31263	0.0791	N	0.08118	0	0.80722	D	1	P;B;B;P;B	0.45569	0.861;0.179;0.313;0.842;0.081	B;B;B;B;B	0.39339	0.297;0.057;0.124;0.239;0.017	T	0.15694	-1.0428	10	0.33141	T	0.24	-1.5501	19.34	0.94337	0.0:0.0:1.0:0.0	.	789;314;198;600;594	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	L	594;790;594;314;47;600;198;137;137	ENSP00000264211:S594L;ENSP00000383274:S594L;ENSP00000364071:S314L;ENSP00000442010:S47L;ENSP00000364073:S600L;ENSP00000444693:S198L;ENSP00000444401:S137L	ENSP00000264211:S594L	S	-	2	0	EIF4G3	21098827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.954000	0.63631	2.562000	0.86427	0.644000	0.83932	TCA		0.423	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		28	177	0	0	0	1	0	28	177				
SCRIB	23513	broad.mit.edu	37	8	144888620	144888620	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:144888620G>C	ENST00000320476.3	-	18	2309	c.2303C>G	c.(2302-2304)cCt>cGt	p.P768R	SCRIB_ENST00000377533.3_Missense_Mutation_p.P687R|SCRIB_ENST00000356994.2_Missense_Mutation_p.P768R	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	768	Interaction with ARHGEF7.|PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCGGGCCGCAGGGCCTTCCTC	0.657																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(2302-2304)cCt>cGt		scribbled planar cell polarity protein							30.0	31.0	31.0					8																	144888620		2196	4297	6493	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144888620G>C	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2303C>G	8.37:g.144888620G>C	ENSP00000322938:p.Pro768Arg					SCRIB_ENST00000377533.3_Missense_Mutation_p.P687R|SCRIB_ENST00000320476.3_Missense_Mutation_p.P768R	p.P768R	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		18	2309	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		768			Interaction with ARHGEF7.|PDZ 1.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.2303C>G	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	g	29.5	5.007374	0.93287	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539;ENST00000531942	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	4.89	4.89	0.63831	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.63094	0.2482	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72080	-0.4398	9	0.87932	D	0	.	17.0679	0.86564	0.0:0.0:1.0:0.0	.	768;768	Q14160;Q14160-3	SCRIB_HUMAN;.	R	768;768;687;137;65	ENSP00000349486:P768R;ENSP00000322938:P768R;ENSP00000366756:P687R;ENSP00000433546:P65R	ENSP00000322938:P768R	P	-	2	0	SCRIB	144960608	1.000000	0.71417	0.978000	0.43139	0.990000	0.78478	7.300000	0.78841	2.283000	0.76528	0.651000	0.88453	CCT		0.657	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		6	7	0	0	0	1	0	6	7				
BPIFB6	128859	broad.mit.edu	37	20	31622624	31622624	+	Missense_Mutation	SNP	C	C	T	rs371915417		TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr20:31622624C>T	ENST00000349552.1	+	4	358	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	120						extracellular region (GO:0005576)	lipid binding (GO:0008289)										AGCCACCAACCGGCTTCTGCG	0.577																																						ENST00000349552.1																			0											c.(358-360)Cgg>Tgg		BPI fold containing family B, member 6		T	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	94.0	73.0	80.0		358	1.9	1.0	20		80	0,8600		0,0,4300	no	missense	BPIFB6	NM_174897.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	120/454	31622624	1,13005	2203	4300	6503	SO:0001583	missense	128859					extracellular region	lipid binding	g.chr20:31622624C>T	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.358C>T	20.37:g.31622624C>T	ENSP00000344929:p.Arg120Trp						p.R120W	NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN			4	358	+			120						Missense_Mutation	SNP	ENST00000349552.1	37	c.358C>T	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	c	11.45	1.643887	0.29246	2.27E-4	0.0	ENSG00000167104	ENST00000349552	T	0.06294	3.32	4.21	1.85	0.25348	.	0.260933	0.25692	N	0.028925	T	0.07908	0.0198	M	0.73598	2.24	0.20403	N	0.999909	B	0.16802	0.019	B	0.09377	0.004	T	0.23332	-1.0191	10	0.62326	D	0.03	.	4.2812	0.10833	0.2819:0.5968:0.0:0.1213	.	120	Q8NFQ5	BPIB6_HUMAN	W	120	ENSP00000344929:R120W	ENSP00000344929:R120W	R	+	1	2	BPIFB6	31086285	0.996000	0.38824	1.000000	0.80357	0.580000	0.36256	0.139000	0.16036	0.894000	0.36317	-0.282000	0.10007	CGG		0.577	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		21	37	0	0	0	1	0	21	37				
BAGE2	85319	broad.mit.edu	37	21	11058248	11058248	+	RNA	SNP	G	G	A	rs8130203	byFrequency	TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr21:11058248G>A	ENST00000470054.1	-	0	399							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAGCACAAGGATAATGATAC	0.433																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							80.0	67.0	71.0					21																	11058248		692	1591	2283			85319							g.chr21:11058248G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058248G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	399	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.433	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	117	0	0	0	1	0	4	117				
PRRT3	285368	broad.mit.edu	37	3	9989643	9989643	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr3:9989643delG	ENST00000412055.1	-	4	1343	c.1214delC	c.(1213-1215)ccafs	p.P405fs	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	405	Pro-rich.					integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TGGGGGTGCTGGGGGATGGCT	0.602																																						ENST00000412055.1																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						c.(1213-1215)cafs		proline-rich transmembrane protein 3							4.0	5.0	5.0					3																	9989643		1728	3814	5542	SO:0001589	frameshift_variant	285368					integral to membrane		g.chr3:9989643delG	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"""Proline-rich transmembrane proteins"""	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.1214delC	3.37:g.9989643delG	ENSP00000392511:p.Pro405fs					PRRT3-AS1_ENST00000431558.1_RNA	p.P405fs	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN			4	1343	-			405			Pro-rich.		Q49AD0|Q6UXY6|Q8NBC9	Frame_Shift_Del	DEL	ENST00000412055.1	37	c.1214delC	CCDS43049.1																																																																																				0.602	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		2	4						2	4	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						28558							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		4	2						4	2	---	---	---	---
GNB3	2784	broad.mit.edu	37	12	6948498	6948500	+	5'Flank	DEL	AGG	AGG	-	rs376000118		TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr12:6948498_6948500delAGG	ENST00000229264.3	+	0	0				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000251761.8_RNA|GNB3_ENST00000435982.2_5'Flank	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3						cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CAGGAGTCACaggaggaggagga	0.606																																						ENST00000251761.8																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)	10								leprecan-like 2																																				SO:0001631	upstream_gene_variant	10536							g.chr12:6948498_6948500delAGG		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517		12.37:g.6948507_6948509delAGG	Exception_encountered					LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA		NM_014262.3	NP_055077.2					0	2117_2119	+								Q96B71|Q9BQC0	RNA	DEL	ENST00000229264.3	37		CCDS8564.1																																																																																				0.606	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		2	4						2	4	---	---	---	---
C16orf90	646174	broad.mit.edu	37	16	3546140	3546141	+	5'Flank	INS	-	-	A	rs200618809|rs74546027		TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr16:3546140_3546141insA	ENST00000437192.3	-	0	0				LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90											large_intestine(1)	1						gactccgtctcaaaaaaaaaaa	0.559																																						ENST00000574423.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:3546140_3546141insA		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627		16.37:g.3546151_3546151dupA	Exception_encountered													0	111	+									RNA	INS	ENST00000437192.3	37		CCDS45397.1																																																																																				0.559	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524		2	4						2	4	---	---	---	---
