#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
FASTK	10922	broad.mit.edu	37	7	150776054	150776054	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:150776054C>T	ENST00000297532.6	-	3	637	c.560G>A	c.(559-561)cGc>cAc	p.R187H	FASTK_ENST00000540185.1_Intron|FASTK_ENST00000353841.2_Missense_Mutation_p.R46H|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_Missense_Mutation_p.R187H	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	187					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		CGGAGGGAGGCGGAGCCTTCG	0.622																																						ENST00000297532.6																			0				lung(4)|stomach(2)	6						c.(559-561)cGc>cAc		Fas-activated serine/threonine kinase							20.0	20.0	20.0					7																	150776054		2201	4299	6500	SO:0001583	missense	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150776054C>T		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.560G>A	7.37:g.150776054C>T	ENSP00000297532:p.Arg187His					FASTK_ENST00000540185.1_Intron|FASTK_ENST00000353841.2_Missense_Mutation_p.R46H|FASTK_ENST00000482571.1_Missense_Mutation_p.R187H|FASTK_ENST00000489884.1_5'UTR	p.R187H	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	3	637	-			187					A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	ENST00000297532.6	37	c.560G>A	CCDS5918.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274842	0.80580	.	.	ENSG00000164896	ENST00000483105;ENST00000297530;ENST00000353841;ENST00000297532;ENST00000482571	T;T;T	0.53640	1.32;1.52;0.61	4.5	3.6	0.41247	.	0.259561	0.24445	N	0.038468	T	0.45836	0.1362	L	0.27053	0.805	0.80722	D	1	D;B;D	0.89917	1.0;0.066;0.989	D;B;B	0.83275	0.996;0.007;0.375	T	0.39210	-0.9625	10	0.07175	T	0.84	.	7.4946	0.27481	0.0:0.8866:0.0:0.1134	.	187;46;187	F8VTW9;Q8IVA0;Q14296	.;.;FASTK_HUMAN	H	187;187;46;187;187	ENSP00000324817:R46H;ENSP00000297532:R187H;ENSP00000418516:R187H	ENSP00000297530:R187H	R	-	2	0	FASTK	150406987	1.000000	0.71417	0.974000	0.42286	0.911000	0.54048	0.566000	0.23593	2.427000	0.82271	0.655000	0.94253	CGC		0.622	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		21	61	0	0	0	1	0	21	61				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		6	437	0	0	0	1	0	6	437				
KRTAP4-11	653240	broad.mit.edu	37	17	39274020	39274020	+	Missense_Mutation	SNP	C	C	G	rs80129796	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:39274020C>G	ENST00000391413.2	-	1	586	c.548G>C	c.(547-549)aGc>aCc	p.S183T		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	183						keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCGGGGGCAGCTGGAGATGAC	0.622													N|||	112	0.0223642	0.0492	0.0216	5008	,	,		20175	0.006		0.0169	False		,,,				2504	0.0092					ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(547-549)aGc>aCc		keratin associated protein 4-11							65.0	73.0	70.0					17																	39274020		692	1590	2282	SO:0001583	missense	653240					keratin filament		g.chr17:39274020C>G	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.548G>C	17.37:g.39274020C>G	ENSP00000375232:p.Ser183Thr						p.S183T	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	586	-		Breast(137;0.000496)	183					A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.548G>C	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	3.150	-0.174494	0.06421	.	.	ENSG00000212721	ENST00000391413	T	0.00605	6.27	3.72	3.72	0.42706	.	.	.	.	.	T	0.00271	0.0008	N	0.01410	-0.885	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.32079	-0.9920	9	0.05833	T	0.94	.	11.2537	0.49041	0.0:0.1875:0.8125:0.0	.	183	Q9BYQ6	KR411_HUMAN	T	183	ENSP00000375232:S183T	ENSP00000375232:S183T	S	-	2	0	KRTAP4-11	36527546	0.990000	0.36364	1.000000	0.80357	0.691000	0.40173	-0.001000	0.12947	0.918000	0.36919	-0.281000	0.10026	AGC		0.622	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	44	0	0	0	1	0	4	44				
QRICH2	84074	broad.mit.edu	37	17	74288692	74288692	+	Missense_Mutation	SNP	C	C	A	rs140703547		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:74288692C>A	ENST00000262765.5	-	4	1797	c.1618G>T	c.(1618-1620)Gat>Tat	p.D540Y		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	540	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCATGCTGATCTGCACCAGGT	0.527																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(1618-1620)Gat>Tat		glutamine rich 2							202.0	160.0	174.0					17																	74288692		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74288692C>A	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1618G>T	17.37:g.74288692C>A	ENSP00000262765:p.Asp540Tyr						p.D540Y	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	1797	-			540			Gln-rich.		A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.1618G>T	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	c	6.193	0.403858	0.11754	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08634	3.07	5.22	-1.08	0.09936	.	.	.	.	.	T	0.04137	0.0115	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.46005	-0.9222	9	0.02654	T	1	3.2715	3.5686	0.07909	0.1213:0.491:0.2374:0.1503	.	540;540	B5MD94;Q9H0J4	.;QRIC2_HUMAN	Y	540	ENSP00000262765:D540Y	ENSP00000262765:D540Y	D	-	1	0	QRICH2	71800287	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.188000	0.09642	-0.002000	0.14469	0.555000	0.69702	GAT		0.527	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		42	343	1	0	1.59361e-14	1	1.71966e-14	42	343				
MAD1L1	8379	broad.mit.edu	37	7	2020096	2020096	+	Silent	SNP	G	G	A	rs113127342		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:2020096G>A	ENST00000406869.1	-	15	2054	c.1497C>T	c.(1495-1497)gaC>gaT	p.D499D	MAD1L1_ENST00000402746.1_Silent_p.D407D|MAD1L1_ENST00000399654.2_Silent_p.D499D|MAD1L1_ENST00000265854.7_Silent_p.D499D			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	499	Necessary for interaction with NEK2.				mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		ACCTGAGCGTGTCCGCCTCCT	0.617																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(1495-1497)gaC>gaT		MAD1 mitotic arrest deficient-like 1 (yeast)							31.0	35.0	33.0					7																	2020096		2035	4168	6203	SO:0001819	synonymous_variant	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2020096G>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1497C>T	7.37:g.2020096G>A						MAD1L1_ENST00000402746.1_Silent_p.D407D|MAD1L1_ENST00000399654.2_Silent_p.D499D|MAD1L1_ENST00000265854.7_Silent_p.D499D	p.D499D			Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	15	2054	-		Ovarian(82;0.0272)	499			Necessary for interaction with NEK2.		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.1497C>T	CCDS43539.1																																																																																				0.617	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		4	115	0	0	0	1	0	4	115				
TRGV5	6978	broad.mit.edu	37	7	38389495	38389495	+	RNA	SNP	C	C	A	rs2012300	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:38389495C>A	ENST00000390344.2	-	0	128									T cell receptor gamma variable 5																		CTTAAAACTCCGGCCCCACTC	0.542													A|||	752	0.15016	0.1755	0.2435	5008	,	,		15107	0.0794		0.1481	False		,,,				2504	0.1247					ENST00000390344.2																			0																				42.0	43.0	43.0					7																	38389495		689	1570	2259			0							g.chr7:38389495C>A	M36286		7p14	2012-02-07				ENSG00000211697		"""T cell receptors / TRG locus"""	12290	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V5"""			TCRGV5		2902186, 2969332	Standard	NG_001336		Approved	V1S5			OTTHUMG00000155101		7.37:g.38389495C>A														0	128	-									RNA	SNP	ENST00000390344.2	37																																																																																						0.542	TRGV5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338407.4	NG_001336		6	123	1	0	4.3838e-07	1	4.60058e-07	6	123				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			13	87	0	0	0	1	0	13	87				
SZT2	23334	broad.mit.edu	37	1	43888983	43888983	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:43888983A>G	ENST00000562955.1	+	15	2251	c.2251A>G	c.(2251-2253)Atc>Gtc	p.I751V	SZT2_ENST00000372442.1_5'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	751					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CAAACTGCTCATCAGGTTGGT	0.602																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(2251-2253)Atc>Gtc		seizure threshold 2 homolog (mouse)							43.0	39.0	40.0					1																	43888983		876	1991	2867	SO:0001583	missense	23334					peroxisome		g.chr1:43888983A>G	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.2251A>G	1.37:g.43888983A>G	ENSP00000457168:p.Ile751Val					SZT2_ENST00000372442.1_5'UTR	p.I751V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			15	2251	+			751					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.2251A>G	CCDS30694.2																																																																																				0.602	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		22	126	0	0	0	1	0	22	126				
DLC1	10395	broad.mit.edu	37	8	12957788	12957788	+	Silent	SNP	C	C	T	rs372344109		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:12957788C>T	ENST00000276297.4	-	9	2467	c.2058G>A	c.(2056-2058)gcG>gcA	p.A686A	DLC1_ENST00000520226.1_Silent_p.A175A|DLC1_ENST00000512044.2_Silent_p.A283A|DLC1_ENST00000358919.2_Silent_p.A249A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	686					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTTTGAGGGCGCTTTGTGCT	0.557																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2056-2058)gcG>gcA		deleted in liver cancer 1		C	,,	1,4405	2.1+/-5.4	0,1,2202	99.0	93.0	95.0		525,747,2058	-5.9	0.2	8		95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	DLC1	NM_001164271.1,NM_006094.4,NM_182643.2	,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	175/1018,249/1092,686/1529	12957788	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957788C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2058G>A	8.37:g.12957788C>T						DLC1_ENST00000358919.2_Silent_p.A249A|DLC1_ENST00000520226.1_Silent_p.A175A|DLC1_ENST00000512044.2_Silent_p.A283A	p.A686A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2467	-			686					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.2058G>A	CCDS5989.1																																																																																				0.557	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		72	632	0	0	0	1	0	72	632				
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:155887393T>G	ENST00000368321.3	-	11	1360	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q446P|SNORA42_ENST00000384744.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1336-1338)cAg>cCg		KIAA0907							14.0	18.0	16.0					1																	155887393		2157	4273	6430	SO:0001583	missense	22889							g.chr1:155887393T>G	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1337A>C	1.37:g.155887393T>G	ENSP00000357304:p.Gln446Pro					KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P	p.Q446P			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1362	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		446			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1337A>C	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.413076	0.25465	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.32753	1.44;1.44	5.76	0.471	0.16752	.	0.977681	0.08344	N	0.960281	T	0.04003	0.0112	N	0.03608	-0.345	0.29419	N	0.860713	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43442	-0.9391	10	0.22706	T	0.39	.	8.2981	0.31997	0.1873:0.0:0.4136:0.3991	.	446;446	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	P	446	ENSP00000357304:Q446P;ENSP00000357303:Q446P	ENSP00000357303:Q446P	Q	-	2	0	KIAA0907	154154017	0.988000	0.35896	0.899000	0.35326	0.963000	0.63663	-0.615000	0.05597	-0.064000	0.13043	0.533000	0.62120	CAG		0.567	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		15	235	0	0	0	1	0	15	235				
OR8H2	390151	broad.mit.edu	37	11	55873188	55873188	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:55873188A>G	ENST00000313503.1	+	1	670	c.670A>G	c.(670-672)Acc>Gcc	p.T224A		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CATTCTCTTTACCATCCTGAA	0.388										HNSCC(53;0.14)																												ENST00000313503.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(670-672)Acc>Gcc		olfactory receptor, family 8, subfamily H, member 2							144.0	135.0	138.0					11																	55873188		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873188A>G	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.670A>G	11.37:g.55873188A>G	ENSP00000323982:p.Thr224Ala	HNSCC(53;0.14)					p.T224A	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	670	+	Esophageal squamous(21;0.00693)		224					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.670A>G	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	a	0.004	-2.294180	0.00245	.	.	ENSG00000181767	ENST00000313503	T	0.00029	8.91	3.35	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.116946	0.39341	N	0.001399	T	0.00073	0.0002	N	0.13299	0.325	0.09310	N	1	B	0.26512	0.151	B	0.30782	0.12	T	0.26643	-1.0097	10	0.02654	T	1	.	3.683	0.08317	0.5643:0.0:0.099:0.3368	.	224	Q8N162	OR8H2_HUMAN	A	224	ENSP00000323982:T224A	ENSP00000323982:T224A	T	+	1	0	OR8H2	55629764	0.000000	0.05858	0.006000	0.13384	0.015000	0.08874	0.174000	0.16743	0.421000	0.25980	0.362000	0.22060	ACC		0.388	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		74	712	0	0	0	1	0	74	712				
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	157	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S157S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S157S(5)	endometrium(3)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(469-471)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	14.0	12.0					9																	20414373		1757	3647	5404	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414373G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.471C>T	9.37:g.20414373G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000355930.6_5'UTR	p.S157S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	757	-			157			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.471C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		7	274	0	0	0	1	0	7	274				
MAPK10	5602	broad.mit.edu	37	4	86950350	86950350	+	Splice_Site	SNP	C	C	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:86950350C>A	ENST00000359221.3	-	13	1778	c.1252G>T	c.(1252-1254)Ggt>Tgt	p.G418C	MAPK10_ENST00000395157.3_Splice_Site_p.G273C|MAPK10_ENST00000449047.2_Splice_Site_p.G273C|MAPK10_ENST00000395161.2_Splice_Site_p.A418S|MAPK10_ENST00000395160.3_Splice_Site_p.A273S|MAPK10_ENST00000361569.2_Splice_Site_p.A418S|MAPK10_ENST00000395166.1_Splice_Site_p.G380C|MAPK10_ENST00000395169.3_Splice_Site_p.G380C			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	418					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GAGTGAGTACCTGAAGGAGAA	0.358																																						ENST00000395169.3																			0				breast(1)|central_nervous_system(1)|stomach(1)	3						c.e13+1		mitogen-activated protein kinase 10							207.0	193.0	198.0					4																	86950350		2203	4300	6503	SO:0001630	splice_region_variant	5602				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	g.chr4:86950350C>A	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.1252+1G>T	4.37:g.86950350C>A						MAPK10_ENST00000395161.2_Splice_Site_p.A418_splice|MAPK10_ENST00000449047.2_Splice_Site_p.G273_splice|MAPK10_ENST00000395160.3_Splice_Site_p.A273_splice|MAPK10_ENST00000359221.3_Splice_Site_p.G418_splice|MAPK10_ENST00000361569.2_Splice_Site_p.A418_splice|MAPK10_ENST00000395166.1_Splice_Site_p.G380_splice|MAPK10_ENST00000395157.3_Splice_Site_p.G273_splice	p.G380_splice	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.002)	13	1858	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)	418					A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Splice_Site	SNP	ENST00000359221.3	37	c.1138_splice	CCDS34026.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	28.8|28.8|28.8	4.954118|4.954118|4.954118	0.92726|0.92726|0.92726	.|.|.	.|.|.	ENSG00000109339|ENSG00000109339|ENSG00000109339	ENST00000361569;ENST00000395160;ENST00000395161|ENST00000395169;ENST00000359221;ENST00000395157;ENST00000395166;ENST00000449047|ENST00000515400	T;T;T|T;T;T;T;T|T	0.80033|0.80480|0.73897	-0.87;-1.33;-0.87|-0.91;-0.92;-1.38;-0.91;-0.86|-0.79	5.96|5.96|5.96	5.96|5.96|5.96	0.96718|0.96718|0.96718	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|D	0.84266|0.84266|0.84266	0.5434|0.5434|0.5434	M|M|M	0.69823|0.69823|0.69823	2.125|2.125|2.125	0.43321|0.43321|0.43321	D|D|D	0.99534|0.99534|0.99534	B;B|D;D;D|.	0.02656|0.67145|.	0.0;0.0|0.98;0.968;0.996|.	B;B|P;P;P|.	0.06405|0.57548|.	0.001;0.002|0.823;0.792;0.711|.	T|T|T	0.82155|0.82155|0.82155	-0.0597|-0.0597|-0.0597	8|9|6	.|.|.	.|.|.	.|.|.	-14.1347|-14.1347|-14.1347	20.0074|20.0074|20.0074	0.97437|0.97437|0.97437	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	304;418|273;380;418|.	B7Z1Z1;P53779-2|Q499Y8;P53779-3;P53779|.	.;.|.;.;MK10_HUMAN|.	S|C|I	418;273;418|380;418;273;380;273|330	ENSP00000355297:A418S;ENSP00000378589:A273S;ENSP00000378590:A418S|ENSP00000378598:G380C;ENSP00000352157:G418C;ENSP00000378586:G273C;ENSP00000378595:G380C;ENSP00000414469:G273C|ENSP00000424154:S330I	.|.|.	A|G|S	-|-|-	1|1|2	0|0|0	MAPK10|MAPK10|MAPK10	87169374|87169374|87169374	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	6.788000|6.788000|6.788000	0.75105|0.75105|0.75105	2.824000|2.824000|2.824000	0.97209|0.97209|0.97209	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCA|GGT|AGC		0.358	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2		Missense_Mutation	24	347	1	0	3.08376e-08	1	3.27221e-08	24	347				
ZNF788	388507	broad.mit.edu	37	19	12223527	12223527	+	Missense_Mutation	SNP	C	C	T	rs546708935		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:12223527C>T	ENST00000339302.4	+	3	1802	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	ZNF788_ENST00000397759.3_Missense_Mutation_p.R8C|ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000430298.2_3'UTR			Q6ZQV5	ZN788_HUMAN	zinc finger family member 788	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						TAGAGAAAAACGCTATAAATG	0.388													.|||	1	0.000199681	0.0	0.0	5008	,	,		23325	0.0		0.0	False		,,,				2504	0.001				Melanoma(116;440 1644 18510 25456 49479)	ENST00000339302.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(1165-1167)Cgc>Tgc		zinc finger family member 788																																				SO:0001583	missense	388507							g.chr19:12223527C>T	AI566055		19p13.2	2013-01-08	2006-08-16		ENSG00000214189	ENSG00000214189		"""Zinc fingers, C2H2-type"""	33112	protein-coding gene	gene with protein product							Standard	NR_027049		Approved	FLJ46419	uc002mtd.3	Q6ZQV5	OTTHUMG00000156416	ENST00000339302.4:c.1165C>T	19.37:g.12223527C>T	ENSP00000342021:p.Arg389Cys					ZNF788_ENST00000430298.2_3'UTR|ZNF788_ENST00000397759.3_Missense_Mutation_p.R8C|ZNF20_ENST00000600335.1_Intron	p.R389C							3	1802	+								Q6ZRE4	Missense_Mutation	SNP	ENST00000339302.4	37	c.1165C>T		.	.	.	.	.	.	.	.	.	.	C	8.109	0.778454	0.16120	.	.	ENSG00000188474	ENST00000339302;ENST00000397759	T;T	0.15487	2.42;2.42	0.808	-1.62	0.08372	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12902	0.0313	.	.	.	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.11817	-1.0572	7	0.87932	D	0	.	8.9175	0.35590	0.0:0.8236:0.0:0.1764	.	389	Q6ZQV5	ZN788_HUMAN	C	389;8	ENSP00000342021:R389C;ENSP00000380866:R8C	ENSP00000342021:R389C	R	+	1	0	AC022415.1	12084527	0.005000	0.15991	0.002000	0.10522	0.002000	0.02628	1.878000	0.39608	-0.813000	0.04357	-1.327000	0.01280	CGC		0.388	ZNF788-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_930581		4	15	0	0	0	1	0	4	15				
SCN8A	6334	broad.mit.edu	37	12	52139700	52139700	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:52139700T>G	ENST00000354534.6	+	13	2190	c.2012T>G	c.(2011-2013)gTg>gGg	p.V671G	SCN8A_ENST00000550891.1_Missense_Mutation_p.V671G|SCN8A_ENST00000545061.1_Missense_Mutation_p.V671G	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	671					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ACAACTGAGGTGGAAATTAAG	0.388																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2011-2013)gTg>gGg		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						64.0	62.0	62.0					12																	52139700		1794	4074	5868	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52139700T>G	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2012T>G	12.37:g.52139700T>G	ENSP00000346534:p.Val671Gly					SCN8A_ENST00000545061.1_Missense_Mutation_p.V671G|SCN8A_ENST00000550891.1_Missense_Mutation_p.V671G	p.V671G	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	13	2190	+			671					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.2012T>G	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.147532	0.57151	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68	5.17	5.17	0.71159	Domain of unknown function DUF3451 (1);	0.675596	0.13302	N	0.398170	D	0.90909	0.7143	L	0.56769	1.78	0.80722	D	1	B;B;B;B	0.28880	0.008;0.0;0.226;0.022	B;B;B;B	0.37304	0.033;0.001;0.246;0.047	D	0.88854	0.3321	10	0.56958	D	0.05	.	15.4888	0.75587	0.0:0.0:0.0:1.0	.	671;682;671;671	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	G	671;671;671;671;584	ENSP00000448415:V671G;ENSP00000346534:V671G;ENSP00000440360:V671G;ENSP00000347255:V671G	ENSP00000346534:V671G	V	+	2	0	SCN8A	50425967	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.717000	0.61923	2.299000	0.77371	0.528000	0.53228	GTG		0.388	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		20	192	0	0	0	1	0	20	192				
ZEB2	9839	broad.mit.edu	37	2	145147456	145147456	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:145147456C>T	ENST00000558170.2	-	10	4391	c.3207G>A	c.(3205-3207)tcG>tcA	p.S1069S	ZEB2_ENST00000303660.4_Silent_p.S1069S|ZEB2_ENST00000409487.3_Silent_p.S1069S|ZEB2_ENST00000539609.3_Silent_p.S1045S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1069					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCTGCGAGTACGAGCCCGAGT	0.577																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(3205-3207)tcG>tcA		zinc finger E-box binding homeobox 2							59.0	56.0	57.0					2																	145147456		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145147456C>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3207G>A	2.37:g.145147456C>T						ZEB2_ENST00000303660.4_Silent_p.S1069S|ZEB2_ENST00000539609.3_Silent_p.S1045S|ZEB2_ENST00000409487.3_Silent_p.S1069S	p.S1069S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	10	4391	-			1069					A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.3207G>A	CCDS2186.1																																																																																				0.577	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		55	432	0	0	0	1	0	55	432				
CCBL1	883	broad.mit.edu	37	9	131597903	131597903	+	Missense_Mutation	SNP	C	C	T	rs370680048		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:131597903C>T	ENST00000302586.3	-	10	1061	c.899G>A	c.(898-900)cGc>cAc	p.R300H	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000436267.2_Missense_Mutation_p.R394H|CCBL1_ENST00000320665.6_Missense_Mutation_p.R250H	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	300					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	GCTGGGTTGGCGGAAGAGCAG	0.607																																						ENST00000436267.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(1180-1182)cGc>cAc		cysteine conjugate-beta lyase, cytoplasmic	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	C	HIS/ARG,HIS/ARG,HIS/ARG	0,4194		0,0,2097	48.0	50.0	49.0		899,749,899	5.3	1.0	9		49	2,8440		0,2,4219	no	missense,missense,missense	CCBL1	NM_001122671.1,NM_001122672.1,NM_004059.4	29,29,29	0,2,6316	TT,TC,CC		0.0237,0.0,0.0158	benign,benign,benign	300/423,250/373,300/423	131597903	2,12634	2097	4221	6318	SO:0001583	missense	883				kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr9:131597903C>T	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"""glutamine transaminase K"", ""kyneurenine aminotransferase"""	600547	"""cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"""			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.899G>A	9.37:g.131597903C>T	ENSP00000302227:p.Arg300His					CCBL1_ENST00000320665.6_Missense_Mutation_p.R250H|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Missense_Mutation_p.R300H	p.R394H			Q16773	KAT1_HUMAN			12	1330	-			300					Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	37	c.1181G>A	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625195	0.46840	0.0	2.37E-4	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267	D;D;D	0.90732	-2.72;-2.72;-2.72	5.3	5.3	0.74995	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.095480	0.64402	D	0.000001	T	0.77538	0.4145	N	0.02539	-0.55	0.33759	D	0.621641	D;B;P;B	0.53151	0.958;0.312;0.754;0.312	B;B;B;B	0.36719	0.231;0.068;0.229;0.068	D	0.85923	0.1447	10	0.62326	D	0.03	-23.4967	17.9232	0.88973	0.0:1.0:0.0:0.0	.	394;300;250;300	B7Z4W5;A8K563;Q16773-2;Q16773	.;.;.;KAT1_HUMAN	H	300;250;394	ENSP00000302227:R300H;ENSP00000317342:R250H;ENSP00000399415:R394H	ENSP00000302227:R300H	R	-	2	0	CCBL1	130637724	1.000000	0.71417	0.990000	0.47175	0.211000	0.24417	5.289000	0.65656	2.468000	0.83385	0.436000	0.28706	CGC		0.607	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			6	282	0	0	0	1	0	6	282				
SAMD7	344658	broad.mit.edu	37	3	169637339	169637339	+	Missense_Mutation	SNP	T	T	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:169637339T>C	ENST00000428432.2	+	3	442	c.53T>C	c.(52-54)aTc>aCc	p.I18T	SAMD7_ENST00000335556.3_Missense_Mutation_p.I18T	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	18										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			ATCCCACTGATCCCCTCACCA	0.423																																						ENST00000428432.2																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(52-54)aTc>aCc		sterile alpha motif domain containing 7							156.0	152.0	154.0					3																	169637339		2203	4300	6503	SO:0001583	missense	344658							g.chr3:169637339T>C	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.53T>C	3.37:g.169637339T>C	ENSP00000391299:p.Ile18Thr					SAMD7_ENST00000335556.3_Missense_Mutation_p.I18T	p.I18T	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		3	442	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		18						Missense_Mutation	SNP	ENST00000428432.2	37	c.53T>C	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	T	9.970	1.225194	0.22457	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.54071	0.59;0.59	5.54	3.03	0.35002	.	0.448320	0.21853	N	0.068158	T	0.34221	0.0890	L	0.29908	0.895	0.09310	N	0.999995	P	0.34462	0.454	B	0.25140	0.058	T	0.21930	-1.0231	10	0.72032	D	0.01	-0.0222	7.5589	0.27839	0.0:0.0725:0.141:0.7864	.	18	Q7Z3H4	SAMD7_HUMAN	T	18	ENSP00000391299:I18T;ENSP00000334668:I18T	ENSP00000334668:I18T	I	+	2	0	SAMD7	171120033	0.999000	0.42202	0.169000	0.22859	0.436000	0.31835	2.859000	0.48364	0.426000	0.26116	0.459000	0.35465	ATC		0.423	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		63	614	0	0	0	1	0	63	614				
GPR114	221188	broad.mit.edu	37	16	57601845	57601845	+	Missense_Mutation	SNP	T	T	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:57601845T>C	ENST00000340339.4	+	9	1422	c.899T>C	c.(898-900)cTg>cCg	p.L300P	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.L300P	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	300					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GCCTTCCTGCTGAGCCCCGCA	0.617																																						ENST00000340339.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						c.(898-900)cTg>cCg		G protein-coupled receptor 114							99.0	77.0	84.0					16																	57601845		2198	4300	6498	SO:0001583	missense	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57601845T>C	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.899T>C	16.37:g.57601845T>C	ENSP00000342981:p.Leu300Pro					GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.L300P	p.L300P	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN			9	1422	+			300					B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	ENST00000340339.4	37	c.899T>C	CCDS10785.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.511275	0.44660	.	.	ENSG00000159618	ENST00000394361;ENST00000340339;ENST00000349457	T;T	0.51071	0.72;0.72	4.22	4.22	0.49857	GPCR, family 2-like (1);	0.274664	0.19811	N	0.105533	T	0.69878	0.3160	M	0.89095	3.005	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.85130	0.997;0.975	T	0.73544	-0.3949	10	0.87932	D	0	.	8.206	0.31456	0.0:0.0:0.2021:0.7979	.	300;300	B4E148;Q8IZF4	.;GP114_HUMAN	P	300	ENSP00000342981:L300P;ENSP00000290823:L300P	ENSP00000342981:L300P	L	+	2	0	GPR114	56159346	0.980000	0.34600	0.987000	0.45799	0.344000	0.29017	2.447000	0.44917	1.678000	0.50952	0.468000	0.43344	CTG		0.617	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837		22	219	0	0	0	1	0	22	219				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							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)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	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.11098863A>G												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	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		12	61	0	0	0	1	0	12	61				
ARHGEF18	23370	broad.mit.edu	37	19	7527146	7527146	+	Missense_Mutation	SNP	G	G	A	rs146371166	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:7527146G>A	ENST00000359920.6	+	11	2250	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.E624K|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R508Q	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	666					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CCCCAGCCCCGAGGCCTATTC	0.602																																						ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(1996-1998)cGa>cAa		Rho/Rac guanine nucleotide exchange factor (GEF) 18							49.0	51.0	50.0					19																	7527146		2203	4300	6503	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7527146G>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1997G>A	19.37:g.7527146G>A	ENSP00000352995:p.Arg666Gln					ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R508Q|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.E624K	p.R666Q	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN			11	2250	+		Renal(5;0.0902)	666					A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.1997G>A	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781375	0.49891	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.34859	1.37;1.34	4.7	-2.21	0.06973	.	0.272643	0.24904	N	0.034666	T	0.31358	0.0794	M	0.78049	2.395	0.09310	N	1	P;D	0.53885	0.737;0.963	B;B	0.42062	0.285;0.374	T	0.36962	-0.9726	10	0.25751	T	0.34	-0.3464	7.2338	0.26057	0.3134:0.4932:0.1934:0.0	.	508;666	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	Q	508;666	ENSP00000319200:R508Q;ENSP00000352995:R666Q	ENSP00000319200:R508Q	R	+	2	0	ARHGEF18	7433146	0.000000	0.05858	0.002000	0.10522	0.831000	0.47069	0.707000	0.25704	-0.182000	0.10602	0.313000	0.20887	CGA		0.602	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		58	483	0	0	0	1	0	58	483				
DCUN1D5	84259	broad.mit.edu	37	11	102933112	102933112	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:102933112C>T	ENST00000260247.5	-	8	1032	c.690G>A	c.(688-690)tgG>tgA	p.W230*	DCUN1D5_ENST00000531543.1_Nonsense_Mutation_p.W145*	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	230	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		GGACTTTTTGCCACTCAACAA	0.368																																						ENST00000260247.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)	4						c.(688-690)tgG>tgA		DCN1, defective in cullin neddylation 1, domain containing 5							158.0	154.0	155.0					11																	102933112		2202	4299	6501	SO:0001587	stop_gained	84259							g.chr11:102933112C>T		CCDS8325.1	11q22.3	2013-06-10	2013-06-10		ENSG00000137692	ENSG00000137692			28409	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae)"""			15988528	Standard	NM_032299		Approved	MGC2714, FLJ32431	uc001phm.3	Q9BTE7	OTTHUMG00000165822	ENST00000260247.5:c.690G>A	11.37:g.102933112C>T	ENSP00000260247:p.Trp230*					DCUN1D5_ENST00000531543.1_Nonsense_Mutation_p.W145*	p.W230*	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)	8	1032	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	230			DCUN1.		Q3ZTT2	Nonsense_Mutation	SNP	ENST00000260247.5	37	c.690G>A	CCDS8325.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711550	0.89112	.	.	ENSG00000137692	ENST00000527260;ENST00000260247;ENST00000531543	.	.	.	5.36	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4437	14.3027	0.66364	0.0:0.9283:0.0:0.0717	.	.	.	.	X	167;230;145	.	ENSP00000260247:W230X	W	-	3	0	DCUN1D5	102438322	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.671000	0.74472	1.406000	0.46857	0.650000	0.86243	TGG		0.368	DCUN1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386382.2	NM_032299		6	524	0	0	0	1	0	6	524				
RANBP9	10048	broad.mit.edu	37	6	13644862	13644862	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:13644862G>A	ENST00000011619.3	-	6	1085	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	RANBP9_ENST00000539980.1_Missense_Mutation_p.R114W	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	343					axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			CTCCACTCCCGCATATAGTCT	0.438																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(1027-1029)Cgg>Tgg		RAN binding protein 9							137.0	129.0	132.0					6																	13644862		2203	4300	6503	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13644862G>A	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1027C>T	6.37:g.13644862G>A	ENSP00000011619:p.Arg343Trp					RANBP9_ENST00000539980.1_Missense_Mutation_p.R114W	p.R343W	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		6	1085	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	343					A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.1027C>T	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024807	0.93518	.	.	ENSG00000010017	ENST00000011619;ENST00000539980	T;T	0.60797	0.16;0.16	5.17	5.17	0.71159	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.66086	0.2754	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.69506	-0.5127	10	0.87932	D	0	-12.8075	13.9455	0.64082	0.0:0.0:0.8481:0.1519	.	343	Q96S59	RANB9_HUMAN	W	343;114	ENSP00000011619:R343W;ENSP00000438162:R114W	ENSP00000011619:R343W	R	-	1	2	RANBP9	13752841	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.879000	0.56138	2.557000	0.86248	0.557000	0.71058	CGG		0.438	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			84	590	0	0	0	1	0	84	590				
CEACAM8	1088	broad.mit.edu	37	19	43098946	43098946	+	Missense_Mutation	SNP	C	C	T	rs143763173		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:43098946C>T	ENST00000244336.5	-	1	136	c.35G>A	c.(34-36)cGc>cAc	p.R12H	CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	12					immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CCAGGGGATGCGCCATCTGCA	0.612																																						ENST00000244336.5																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16						c.(34-36)cGc>cAc		carcinoembryonic antigen-related cell adhesion molecule 8		C	HIS/ARG	0,4406		0,0,2203	106.0	97.0	100.0		35	-2.9	0.0	19	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEACAM8	NM_001816.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	12/350	43098946	1,13005	2203	4300	6503	SO:0001583	missense	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43098946C>T	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.35G>A	19.37:g.43098946C>T	ENSP00000244336:p.Arg12His					LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H|LIPE-AS1_ENST00000594624.2_RNA	p.R12H	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN			1	136	-		Prostate(69;0.00899)	12					O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.35G>A	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	c	4.281	0.051329	0.08291	0.0	1.16E-4	ENSG00000124469	ENST00000244336	T	0.18657	2.2	1.48	-2.92	0.05615	.	.	.	.	.	T	0.05868	0.0153	N	0.01874	-0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.30621	-0.9972	9	0.33141	T	0.24	.	2.0313	0.03529	0.2556:0.3609:0.0:0.3835	.	12	P31997	CEAM8_HUMAN	H	12	ENSP00000244336:R12H	ENSP00000244336:R12H	R	-	2	0	CEACAM8	47790786	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.006000	0.00650	-0.779000	0.04560	-0.657000	0.03884	CGC		0.612	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			8	664	0	0	0	1	0	8	664				
TUBBP5	643224	broad.mit.edu	37	9	141070069	141070069	+	RNA	SNP	C	C	T	rs370794960		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:141070069C>T	ENST00000503395.1	+	0	1149									tubulin, beta pseudogene 5																		GGTACGTGCCCCGCGCTGTGC	0.711																																						ENST00000503395.1																			0																																																			0							g.chr9:141070069C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070069C>T														0	1149	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.711	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		5	320	0	0	0	1	0	5	320				
MEF2A	4205	broad.mit.edu	37	15	100211761	100211761	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:100211761C>T	ENST00000354410.5	+	5	924	c.295C>T	c.(295-297)Cca>Tca	p.P99S	MEF2A_ENST00000338042.6_Intron|MEF2A_ENST00000557785.1_Intron|MEF2A_ENST00000453228.2_Intron|MEF2A_ENST00000557942.1_Intron|MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000449277.2_Intron	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	99					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)	p.P99S(3)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GTGCGACAGCCCAGACCCTGA	0.333																																						ENST00000354410.5																			3	Substitution - Missense(3)	p.P99S(3)	lung(1)|kidney(1)|central_nervous_system(1)	endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12						c.(295-297)Cca>Tca		myocyte enhancer factor 2A							82.0	69.0	73.0					15																	100211761		1843	4079	5922	SO:0001583	missense	0				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100211761C>T		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000354410.5:c.295C>T	15.37:g.100211761C>T	ENSP00000346389:p.Pro99Ser					MEF2A_ENST00000338042.6_Intron|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000557942.1_Intron|MEF2A_ENST00000557785.1_Intron|MEF2A_ENST00000453228.2_Intron	p.P99S	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		5	924	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		99					B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000354410.5	37	c.295C>T	CCDS45362.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814941	0.90790	.	.	ENSG00000068305	ENST00000354410	T	0.63255	-0.03	5.42	5.42	0.78866	Holliday junction regulator protein family C-terminal repeat (1);	0.000000	0.85682	D	0.000000	D	0.82866	0.5130	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.85220	0.1026	10	0.72032	D	0.01	-16.5447	19.5673	0.95398	0.0:1.0:0.0:0.0	.	99;99	Q02078;Q02078-5	MEF2A_HUMAN;.	S	99	ENSP00000346389:P99S	ENSP00000346389:P99S	P	+	1	0	MEF2A	98029284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.706000	0.92434	0.462000	0.41574	CCA		0.333	MEF2A-001	KNOWN	overlapping_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000415980.1			7	166	0	0	0	1	0	7	166				
KRTAP10-1	386677	broad.mit.edu	37	21	45959752	45959752	+	Silent	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr21:45959752G>A	ENST00000400375.1	-	1	326	c.282C>T	c.(280-282)ccC>ccT	p.P94P	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	94	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						cctgctggcagggggaggagg	0.662																																						ENST00000400375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						c.(280-282)ccC>ccT		keratin associated protein 10-1							41.0	47.0	45.0					21																	45959752		2190	4281	6471	SO:0001819	synonymous_variant	386677					keratin filament		g.chr21:45959752G>A	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.282C>T	21.37:g.45959752G>A						TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.P94P	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN			1	326	-			94			24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Silent	SNP	ENST00000400375.1	37	c.282C>T	CCDS42954.1																																																																																				0.662	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			7	607	0	0	0	1	0	7	607				
EPB41L4B	54566	broad.mit.edu	37	9	111970268	111970268	+	Missense_Mutation	SNP	G	G	A	rs201598200		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:111970268G>A	ENST00000374566.3	-	18	2331	c.1814C>T	c.(1813-1815)gCg>gTg	p.A605V		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	605					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACATGATCCGCAACAGGGGA	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		19497	0.0		0.0	False		,,,				2504	0.001					ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1813-1815)gCg>gTg		erythrocyte membrane protein band 4.1 like 4B		G	VAL/ALA	0,3688		0,0,1844	130.0	118.0	121.0		1814	5.5	0.1	9		121	4,8220		0,4,4108	yes	missense	EPB41L4B	NM_019114.3	64	0,4,5952	AA,AG,GG		0.0486,0.0,0.0336	benign	605/901	111970268	4,11908	1844	4112	5956	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111970268G>A	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1814C>T	9.37:g.111970268G>A	ENSP00000363694:p.Ala605Val						p.A605V	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			18	2331	-			605					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.1814C>T	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711206	0.48517	0.0	4.86E-4	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.84516	-1.86	5.49	5.49	0.81192	.	0.000000	0.39834	N	0.001248	T	0.78130	0.4235	N	0.22421	0.69	0.80722	D	1	B	0.22541	0.071	B	0.12156	0.007	T	0.75255	-0.3382	10	0.87932	D	0	.	16.9032	0.86118	0.0:0.0:1.0:0.0	.	605	Q9H329	E41LB_HUMAN	V	290;605	ENSP00000363694:A605V	ENSP00000262536:A290V	A	-	2	0	EPB41L4B	111010089	0.984000	0.35163	0.130000	0.21974	0.350000	0.29205	4.611000	0.61162	2.583000	0.87209	0.561000	0.74099	GCG		0.423	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		6	578	0	0	0	1	0	6	578				
ANKRD36BP2	645784	broad.mit.edu	37	2	89082281	89082281	+	RNA	SNP	T	T	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:89082281T>C	ENST00000393525.3	+	0	503									ankyrin repeat domain 36B pseudogene 2																		GCTGAGAAGGTAATTAAAGTC	0.323																																						ENST00000393525.3																			0																																																			0							g.chr2:89082281T>C			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89082281T>C														0	503	+									RNA	SNP	ENST00000393525.3	37																																																																																						0.323	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			3	194	0	0	0	1	0	3	194				
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTCTCTCCTGTGGGAGGGGGG	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659734T>C	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659734T>C								NR_003714.1						0	3259	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		4	83	0	0	0	1	0	4	83				
KSR2	283455	broad.mit.edu	37	12	118105363	118105363	+	Missense_Mutation	SNP	G	G	A	rs375751976		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:118105363G>A	ENST00000339824.5	-	5	1814	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.R60C|KSR2_ENST00000425217.1_Missense_Mutation_p.R334C			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	363					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGAGGGAGCGCTCGGACAGC	0.592																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1000-1002)Cgc>Tgc		kinase suppressor of ras 2							49.0	54.0	52.0					12																	118105363		2046	4180	6226	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118105363G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1087C>T	12.37:g.118105363G>A	ENSP00000339952:p.Arg363Cys					KSR2_ENST00000302438.5_Missense_Mutation_p.R60C|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.R363C	p.R334C	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			5	1054	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		363					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1000C>T		.	.	.	.	.	.	.	.	.	.	G	20.3	3.975356	0.74360	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;T	0.53423	0.62;0.62;0.62	4.77	3.8	0.43715	.	0.076645	0.53938	D	0.000048	T	0.41511	0.1162	L	0.34521	1.04	0.52501	D	0.99995	D	0.69078	0.997	P	0.47603	0.551	T	0.26087	-1.0113	10	0.37606	T	0.19	.	12.9567	0.58432	0.0:0.0:0.8375:0.1625	.	363	Q6VAB6	KSR2_HUMAN	C	334;363;60;35	ENSP00000389715:R334C;ENSP00000339952:R363C;ENSP00000305466:R60C	ENSP00000305466:R60C	R	-	1	0	KSR2	116589746	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.450000	0.80656	2.356000	0.79943	0.462000	0.41574	CGC		0.592	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		25	70	0	0	0	1	0	25	70				
SUSD2	56241	broad.mit.edu	37	22	24583191	24583191	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:24583191C>T	ENST00000358321.3	+	11	1925	c.1664C>T	c.(1663-1665)gCc>gTc	p.A555V		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	555	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TCGGTGGCTGCCGGGGACAGG	0.652																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1663-1665)gCc>gTc		sushi domain containing 2							74.0	69.0	71.0					22																	24583191		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24583191C>T	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1664C>T	22.37:g.24583191C>T	ENSP00000351075:p.Ala555Val						p.A555V	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			11	1925	+			555			VWFD.		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.1664C>T	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	7.908	0.735908	0.15574	.	.	ENSG00000099994	ENST00000358321	T	0.20332	2.08	4.5	1.99	0.26369	von Willebrand factor, type D domain (3);	0.816161	0.11339	N	0.574287	T	0.18215	0.0437	L	0.39397	1.21	0.09310	N	1	P	0.39352	0.669	B	0.41374	0.355	T	0.13899	-1.0492	10	0.41790	T	0.15	-2.6699	6.5498	0.22427	0.0:0.4452:0.4474:0.1074	.	555	Q9UGT4	SUSD2_HUMAN	V	555	ENSP00000351075:A555V	ENSP00000351075:A555V	A	+	2	0	SUSD2	22913191	0.000000	0.05858	0.001000	0.08648	0.105000	0.19272	0.215000	0.17562	0.992000	0.38840	0.449000	0.29647	GCC		0.652	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		5	273	0	0	0	1	0	5	273				
ZC3H4	23211	broad.mit.edu	37	19	47575255	47575255	+	Silent	SNP	A	A	C	rs73943611	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:47575255A>C	ENST00000253048.5	-	13	1963	c.1926T>G	c.(1924-1926)ccT>ccG	p.P642P	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	642	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		cgtgcatgtcagggtgcatgt	0.662													a|||	4	0.000798722	0.0008	0.0043	5008	,	,		20539	0.0		0.0	False		,,,				2504	0.0					ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(1924-1926)ccT>ccG		zinc finger CCCH-type containing 4							32.0	36.0	35.0					19																	47575255		2112	4250	6362	SO:0001819	synonymous_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47575255A>C	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1926T>G	19.37:g.47575255A>C						ZC3H4_ENST00000594019.1_Intron	p.P642P	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	13	1963	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	642			Pro-rich.		Q9Y420	Silent	SNP	ENST00000253048.5	37	c.1926T>G	CCDS42582.1																																																																																				0.662	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			7	65	0	0	0	1	0	7	65				
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731																																						ENST00000375299.3																			8	Substitution - coding silent(8)	p.L91L(8)	lung(2)|prostate(2)|kidney(2)|central_nervous_system(2)	autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(271-273)Ctg>Ttg		UPF3 regulator of nonsense transcripts homolog A (yeast)							4.0	4.0	4.0					13																	115047559		1902	3804	5706	SO:0001819	synonymous_variant	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115047559C>T	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.271C>T	13.37:g.115047559C>T						UPF3A_ENST00000351487.5_Silent_p.L91L	p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	2	327	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	91			Required for interaction with UPF2.		A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	c.271C>T	CCDS9543.1																																																																																				0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			4	51	0	0	0	1	0	4	51				
KRTAP26-1	388818	broad.mit.edu	37	21	31692255	31692255	+	Silent	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr21:31692255G>A	ENST00000360542.3	-	1	352	c.99C>T	c.(97-99)agC>agT	p.S33S		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	33						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CACAGCTCACGCTGGTAGGGC	0.552																																						ENST00000360542.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(97-99)agC>agT		keratin associated protein 26-1							91.0	90.0	90.0					21																	31692255		2203	4300	6503	SO:0001819	synonymous_variant	388818					intermediate filament		g.chr21:31692255G>A	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"""Keratin associated proteins"""	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.99C>T	21.37:g.31692255G>A							p.S33S	NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN			1	352	-			33					B0RZD3	Silent	SNP	ENST00000360542.3	37	c.99C>T	CCDS13588.1																																																																																				0.552	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		64	412	0	0	0	1	0	64	412				
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423																																						ENST00000367049.4																			19	Substitution - Nonsense(19)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)	lung(6)|endometrium(6)|prostate(3)|kidney(2)|central_nervous_system(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6580-6582)Cga>Tga		complement component (3b/4b) receptor 1 (Knops blood group)							103.0	94.0	97.0					1																	207787753		1868	4107	5975	SO:0001587	stop_gained	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207787753C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6580C>T	1.37:g.207787753C>T	ENSP00000356016:p.Arg2194*					CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*	p.R2194*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			40	6580	+			1744					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	ENST00000367049.4	37	c.6580C>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	44	11.182593	0.99528	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.	.	.	4.29	2.39	0.29439	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5152	0.27596	0.0:0.7891:0.0:0.2109	rs55749440	.	.	.	X	1744;1744;1744;1744;2194	.	ENSP00000356016:R2194X	R	+	1	2	CR1	205854376	0.129000	0.22400	0.370000	0.25965	0.352000	0.29268	0.213000	0.17521	0.518000	0.28383	0.436000	0.28706	CGA		0.423	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		5	237	0	0	0	1	0	5	237				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240908	39240908	+	Silent	SNP	T	T	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:39240908T>C	ENST00000391417.4	+	1	450	c.450T>C	c.(448-450)tgT>tgC	p.C150C		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	205	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C150C(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CCTTGTGCTGTGCCTCCTCTT	0.607																																						ENST00000391417.4																			1	Substitution - coding silent(1)	p.C150C(1)	lung(1)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(448-450)tgT>tgC		keratin associated protein 4-7							90.0	87.0	88.0					17																	39240908		692	1591	2283	SO:0001819	synonymous_variant	100132476							g.chr17:39240908T>C	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.450T>C	17.37:g.39240908T>C							p.C150C	NM_033061.3	NP_149050.3					1	450	+								A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	37	c.450T>C	CCDS45673.1																																																																																				0.607	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			5	35	0	0	0	1	0	5	35				
CTSF	8722	broad.mit.edu	37	11	66330622	66330622	+	IGR	SNP	C	C	T	rs79516407	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:66330622C>T	ENST00000310325.5	-	0	2035				ACTN3_ENST00000502692.1_RNA|CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000513398.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CCCTGGACTACGTGGCCTTCT	0.632													C|||	7	0.00139776	0.0	0.0	5008	,	,		16750	0.0069		0.0	False		,,,				2504	0.0					ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)							41.0	45.0	44.0					11																	66330622		1958	4135	6093	SO:0001628	intergenic_variant	89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66330622C>T	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66330622C>T						ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN			0	2761	+								B2R964|O95240|Q9NSU4|Q9UKQ5	RNA	SNP	ENST00000310325.5	37		CCDS8144.1																																																																																				0.632	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		58	298	0	0	0	1	0	58	298				
FAM104B	90736	broad.mit.edu	37	X	55185620	55185620	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:55185620G>C	ENST00000358460.4	-	2	215	c.62C>G	c.(61-63)tCc>tGc	p.S21C	FAM104B_ENST00000472571.2_Missense_Mutation_p.S21C|FAM104B_ENST00000489298.1_Missense_Mutation_p.S20C|FAM104B_ENST00000332132.4_Missense_Mutation_p.S21C|FAM104B_ENST00000425133.2_Missense_Mutation_p.S21C|FAM104B_ENST00000477847.2_Missense_Mutation_p.S18C|FAM104B_ENST00000478918.1_5'UTR			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	21										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GGGCTGGGTGGAATGATGGTT	0.383																																						ENST00000425133.2																			0				endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(61-63)tCc>tGc		family with sequence similarity 104, member B							159.0	124.0	136.0					X																	55185620		2203	4300	6503	SO:0001583	missense	90736							g.chrX:55185620G>C	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"""chromosome X open reading frame 44"""	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.62C>G	X.37:g.55185620G>C	ENSP00000364101:p.Ser21Cys					FAM104B_ENST00000358460.4_Missense_Mutation_p.S21C|FAM104B_ENST00000332132.4_Missense_Mutation_p.S21C|FAM104B_ENST00000472571.2_Missense_Mutation_p.S21C|FAM104B_ENST00000489298.1_Missense_Mutation_p.S20C|FAM104B_ENST00000477847.2_Missense_Mutation_p.S18C|FAM104B_ENST00000478918.1_5'UTR	p.S21C	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN			2	100	-			21					A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Missense_Mutation	SNP	ENST00000358460.4	37	c.62C>G	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	g	5.431	0.264571	0.10294	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000472571;ENST00000477847;ENST00000489298	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	2.47	0.585	0.17428	.	.	.	.	.	T	0.29223	0.0727	N	0.22421	0.69	0.09310	N	1	B;B;B	0.20988	0.05;0.05;0.05	B;B;B	0.21360	0.015;0.034;0.034	T	0.26224	-1.0109	9	0.72032	D	0.01	-0.1127	3.1646	0.06531	0.1779:0.2802:0.5418:0.0	.	21;21;21	Q5XKR9-3;Q5XKR9;Q5XKR9-2	.;F104B_HUMAN;.	C	21;21;21;21;18;20	ENSP00000364101:S21C;ENSP00000333394:S21C;ENSP00000397188:S21C;ENSP00000420895:S21C;ENSP00000421161:S18C;ENSP00000423164:S20C	ENSP00000333394:S21C	S	-	2	0	FAM104B	55202345	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.100000	0.10990	0.041000	0.15688	0.513000	0.50165	TCC		0.383	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	NM_138362		5	291	0	0	0	1	0	5	291				
CEP170B	283638	broad.mit.edu	37	14	105361169	105361169	+	Silent	SNP	A	A	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr14:105361169A>C	ENST00000414716.3	+	19	4767	c.4539A>C	c.(4537-4539)tcA>tcC	p.S1513S	CEP170B_ENST00000453495.1_Silent_p.S1549S|CEP170B_ENST00000556508.1_Silent_p.S1478S|CEP170B_ENST00000418279.1_Silent_p.S1443S	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1548						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.S1513S(3)|p.S1479S(3)|p.S1478S(1)									GCCCACCCTCACCCGCCTCAG	0.711																																						ENST00000453495.1																			7	Substitution - coding silent(7)	p.S1513S(3)|p.S1479S(3)|p.S1478S(1)	prostate(3)|kidney(2)|central_nervous_system(2)								c.(4645-4647)tcA>tcC		centrosomal protein 170B							11.0	15.0	14.0					14																	105361169		1915	4097	6012	SO:0001819	synonymous_variant	283638							g.chr14:105361169A>C	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.4539A>C	14.37:g.105361169A>C						CEP170B_ENST00000418279.1_Silent_p.S1443S|CEP170B_ENST00000414716.3_Silent_p.S1513S|CEP170B_ENST00000556508.1_Silent_p.S1478S	p.S1549S							19	4875	+								Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	c.4647A>C	CCDS45175.1																																																																																				0.711	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		17	98	0	0	0	1	0	17	98				
TBX20	57057	broad.mit.edu	37	7	35271146	35271146	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:35271146C>T	ENST00000408931.3	-	6	1386	c.860G>A	c.(859-861)cGg>cAg	p.R287Q		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	287					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GGAGGAATCCCGGAATCCTTT	0.378																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(859-861)cGg>cAg		T-box 20							87.0	78.0	81.0					7																	35271146		2203	4300	6503	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35271146C>T	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.860G>A	7.37:g.35271146C>T	ENSP00000386170:p.Arg287Gln						p.R287Q	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			6	1386	-			287					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.860G>A	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	C	35	5.516337	0.96402	.	.	ENSG00000164532	ENST00000408931	D	0.90676	-2.71	5.46	5.46	0.80206	p53-like transcription factor, DNA-binding (1);	0.050580	0.85682	D	0.000000	D	0.97025	0.9028	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97965	1.0340	10	0.87932	D	0	.	19.2979	0.94131	0.0:1.0:0.0:0.0	.	287	Q9UMR3	TBX20_HUMAN	Q	287	ENSP00000386170:R287Q	ENSP00000386170:R287Q	R	-	2	0	TBX20	35237671	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.814000	0.86154	2.554000	0.86153	0.511000	0.50034	CGG		0.378	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		29	275	0	0	0	1	0	29	275				
TMEM130	222865	broad.mit.edu	37	7	98453722	98453722	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:98453722C>T	ENST00000416379.2	-	4	640	c.636G>A	c.(634-636)gcG>gcA	p.A212A	TMEM130_ENST00000546258.1_Silent_p.A193A|TMEM130_ENST00000450876.1_Silent_p.A128A|TMEM130_ENST00000345589.4_Silent_p.A110A|TMEM130_ENST00000339375.4_Silent_p.A212A			Q8N3G9	TM130_HUMAN	transmembrane protein 130	212	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.A212A(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTTCCCACTCCGCCACCACTT	0.587																																						ENST00000450876.1																			1	Substitution - coding silent(1)	p.A212A(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25						c.(382-384)gcG>gcA		transmembrane protein 130							88.0	80.0	83.0					7																	98453722		2203	4300	6503	SO:0001819	synonymous_variant	222865					Golgi membrane|integral to membrane		g.chr7:98453722C>T		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.636G>A	7.37:g.98453722C>T						TMEM130_ENST00000546258.1_Silent_p.A193A|TMEM130_ENST00000345589.4_Silent_p.A110A|TMEM130_ENST00000339375.4_Silent_p.A212A|TMEM130_ENST00000416379.2_Silent_p.A212A	p.A128A			Q8N3G9	TM130_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	1699	-	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		212					A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Silent	SNP	ENST00000416379.2	37	c.384G>A	CCDS47650.1																																																																																				0.587	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913		23	182	0	0	0	1	0	23	182				
RBM5	10181	broad.mit.edu	37	3	50141711	50141711	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:50141711A>G	ENST00000347869.3	+	8	773	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	200					apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAAAAGACTAAAATGCTTCCG	0.398																																						ENST00000347869.3																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19						c.(598-600)Aaa>Gaa		RNA binding motif protein 5							81.0	80.0	80.0					3																	50141711		2203	4300	6503	SO:0001583	missense	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50141711A>G	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.598A>G	3.37:g.50141711A>G	ENSP00000343054:p.Lys200Glu						p.K200E	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	8	773	+			200					B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	ENST00000347869.3	37	c.598A>G	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	A	31	5.072147	0.93950	.	.	ENSG00000003756	ENST00000347869;ENST00000543047	T	0.59224	0.28	6.17	6.17	0.99709	Zinc finger, RanBP2-type (4);	0.000000	0.85682	D	0.000000	T	0.62270	0.2414	N	0.17379	0.485	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.61855	-0.6977	10	0.30078	T	0.28	-18.5041	16.8222	0.85835	1.0:0.0:0.0:0.0	.	200	P52756	RBM5_HUMAN	E	200;199	ENSP00000343054:K200E	ENSP00000343054:K200E	K	+	1	0	RBM5	50116715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	AAA		0.398	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		57	201	0	0	0	1	0	57	201				
RPL32P3	132241	broad.mit.edu	37	3	129116166	129116166	+	RNA	SNP	G	G	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:129116166G>C	ENST00000514355.1	-	0	412				SNORA7B_ENST00000384360.1_RNA					ribosomal protein L32 pseudogene 3											lung(1)	1						ATACTAGGCAGTCTCCAGATG	0.542																																						ENST00000384360.1																			0																				188.0	176.0	180.0					3																	129116166		876	1991	2867			0							g.chr3:129116166G>C	AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129116166G>C						RPL32P3_ENST00000514355.1_RNA		NR_002992.2						0	25	-									RNA	SNP	ENST00000514355.1	37																																																																																						0.542	RPL32P3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000355880.1			8	819	0	0	0	1	0	8	819				
CAMK4	814	broad.mit.edu	37	5	110819841	110819841	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:110819841G>A	ENST00000282356.4	+	11	1497	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.E367K	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	367					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AGATGGCAACGAGGACATGAA	0.577																																						ENST00000282356.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(1099-1101)Gag>Aag		calcium/calmodulin-dependent protein kinase IV							67.0	69.0	68.0					5																	110819841		2202	4300	6502	SO:0001583	missense	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110819841G>A	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.1099G>A	5.37:g.110819841G>A	ENSP00000282356:p.Glu367Lys					CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.E367K	p.E367K	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	11	1497	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	367					D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	c.1099G>A	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.206213	0.39003	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.67171	-0.25;-0.25	5.61	0.729	0.18266	.	0.606770	0.16661	N	0.204778	T	0.37320	0.0999	N	0.08118	0	0.09310	N	1	B	0.27117	0.168	B	0.17722	0.019	T	0.15378	-1.0439	10	0.24483	T	0.36	.	5.8075	0.18448	0.2789:0.2466:0.4745:0.0	.	367	Q16566	KCC4_HUMAN	K	367	ENSP00000422634:E367K;ENSP00000282356:E367K	ENSP00000282356:E367K	E	+	1	0	CAMK4	110847740	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	1.082000	0.30803	0.325000	0.23359	-0.218000	0.12543	GAG		0.577	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		41	446	0	0	0	1	0	41	446				
SRMS	6725	broad.mit.edu	37	20	62172886	62172886	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr20:62172886C>T	ENST00000217188.1	-	6	1074	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	345	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GTGCACAACGCGCTGCTCCTC	0.706																																						ENST00000217188.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(1033-1035)cGc>cAc		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites							16.0	16.0	16.0					20																	62172886		2177	4284	6461	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62172886C>T		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1034G>A	20.37:g.62172886C>T	ENSP00000217188:p.Arg345His						p.R345H	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		6	1074	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		345			Protein kinase.			Missense_Mutation	SNP	ENST00000217188.1	37	c.1034G>A	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	C	9.383	1.073526	0.20147	.	.	ENSG00000125508	ENST00000217188	T	0.11712	2.75	4.16	1.63	0.23807	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.111999	0.39146	N	0.001459	T	0.06872	0.0175	N	0.26130	0.795	0.29588	N	0.848669	B	0.06786	0.001	B	0.06405	0.002	T	0.14254	-1.0479	10	0.59425	D	0.04	.	5.6526	0.17625	0.0:0.3106:0.0:0.6894	.	345	Q9H3Y6	SRMS_HUMAN	H	345	ENSP00000217188:R345H	ENSP00000217188:R345H	R	-	2	0	SRMS	61643330	0.905000	0.30787	0.012000	0.15200	0.005000	0.04900	0.591000	0.23969	0.308000	0.22923	0.561000	0.74099	CGC		0.706	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		12	71	0	0	0	1	0	12	71				
TRBV5-4	28611	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:142168890C>T	ENST00000454561.2	-	0	155									T cell receptor beta variable 5-4																		GGGCTTGGTCCTCCTGGGGAA	0.592																																						ENST00000454561.2																			0																				25.0	26.0	26.0					7																	142168890		1957	4131	6088			0							g.chr7:142168890C>T	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168890C>T														0	155	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.592	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		5	134	0	0	0	1	0	5	134				
FAM155A	728215	broad.mit.edu	37	13	108518661	108518661	+	Missense_Mutation	SNP	T	T	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr13:108518661T>C	ENST00000375915.2	-	1	422	c.284A>G	c.(283-285)cAg>cGg	p.Q95R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	95	Poly-Gln.					integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgccgccgctgctgctgctg	0.731																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(283-285)cAg>cGg		family with sequence similarity 155, member A							8.0	11.0	10.0					13																	108518661		1836	3781	5617	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518661T>C	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.284A>G	13.37:g.108518661T>C	ENSP00000365080:p.Gln95Arg						p.Q95R	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	422	-			95			Poly-Gln.		B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.284A>G	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	T	0.110	-1.140286	0.01728	.	.	ENSG00000204442	ENST00000375915	T	0.57436	0.4	5.23	3.12	0.35913	Armadillo-like helical (1);	0.660669	0.12437	N	0.469027	T	0.30417	0.0764	N	0.25332	0.735	0.19300	N	0.999978	B	0.02656	0.0	B	0.01281	0.0	T	0.27806	-1.0063	10	0.07030	T	0.85	.	3.3913	0.07290	0.0:0.517:0.2156:0.2674	.	95	B1AL88	F155A_HUMAN	R	95	ENSP00000365080:Q95R	ENSP00000365080:Q95R	Q	-	2	0	FAM155A	107316662	0.206000	0.23470	1.000000	0.80357	0.982000	0.71751	0.127000	0.15790	1.195000	0.43115	-0.181000	0.13052	CAG		0.731	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		6	210	0	0	0	1	0	6	210				
AMPH	273	broad.mit.edu	37	7	38433731	38433731	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:38433731C>T	ENST00000356264.2	-	18	1697	c.1482G>A	c.(1480-1482)gcG>gcA	p.A494A	AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Silent_p.A452A|AMPH_ENST00000325590.5_Silent_p.A452A	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	494					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGGCCTTCTCCGCCTCTGCTT	0.572																																						ENST00000356264.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(1480-1482)gcG>gcA		amphiphysin							115.0	106.0	109.0					7																	38433731		2203	4300	6503	SO:0001819	synonymous_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38433731C>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1482G>A	7.37:g.38433731C>T						AMPH_ENST00000325590.5_Silent_p.A452A|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Silent_p.A452A	p.A494A	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			18	1697	-			494					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	c.1482G>A	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	7.274	0.607831	0.14002	.	.	ENSG00000078053	ENST00000441628	.	.	.	5.93	-0.865	0.10662	.	.	.	.	.	T	0.50222	0.1603	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35847	-0.9772	4	.	.	.	-0.2186	5.4285	0.16440	0.0:0.3234:0.1423:0.5344	.	.	.	.	R	377	.	.	G	-	1	0	AMPH	38400256	0.002000	0.14202	0.827000	0.32855	0.572000	0.35998	-0.546000	0.06062	-0.364000	0.08088	-0.414000	0.06135	GGA		0.572	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		79	909	0	0	0	1	0	79	909				
CETP	1071	broad.mit.edu	37	16	57003893	57003893	+	Silent	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:57003893G>A	ENST00000566128.1	+	5	579	c.312G>A	c.(310-312)ctG>ctA	p.L104L	CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Silent_p.L169L|CETP_ENST00000200676.3_Silent_p.L169L					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						AGCTGCTCCTGCATCTCCAAG	0.602																																						ENST00000200676.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						c.(505-507)ctG>ctA		cholesteryl ester transfer protein, plasma							111.0	70.0	84.0					16																	57003893		2198	4300	6498	SO:0001819	synonymous_variant	1071				cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:57003893G>A	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.312G>A	16.37:g.57003893G>A						CETP_ENST00000566128.1_Silent_p.L104L|CETP_ENST00000379780.2_Silent_p.L169L|CETP_ENST00000569082.1_3'UTR	p.L169L	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN			5	637	+			169						Silent	SNP	ENST00000566128.1	37	c.507G>A																																																																																					0.602	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078		4	166	0	0	0	1	0	4	166				
DNAH7	56171	broad.mit.edu	37	2	196729627	196729627	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:196729627C>T	ENST00000312428.6	-	41	6852	c.6752G>A	c.(6751-6753)cGt>cAt	p.R2251H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2251					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAAATCCAAACGCTGAAAAAG	0.403																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(6751-6753)cGt>cAt		dynein, axonemal, heavy chain 7							134.0	121.0	125.0					2																	196729627		1897	4126	6023	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729627C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6752G>A	2.37:g.196729627C>T	ENSP00000311273:p.Arg2251His						p.R2251H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			41	6852	-			2251					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6752G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.380008	0.00205	.	.	ENSG00000118997	ENST00000312428	T	0.22336	1.96	5.22	-6.7	0.01766	.	1.347210	0.04612	N	0.400496	T	0.04363	0.0120	N	0.00308	-1.67	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44877	-0.9299	10	0.06236	T	0.91	.	11.2731	0.49150	0.0:0.1324:0.1985:0.6691	.	2251	Q8WXX0	DYH7_HUMAN	H	2251	ENSP00000311273:R2251H	ENSP00000311273:R2251H	R	-	2	0	DNAH7	196437872	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.573000	0.02134	-1.213000	0.02617	-0.983000	0.02560	CGT		0.403	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		168	592	0	0	0	1	0	168	592				
LOC101927755	101927755	broad.mit.edu	37	17	58066651	58066651	+	lincRNA	SNP	C	C	T	rs376360537		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:58066651C>T	ENST00000586209.1	+	0	158																											ACTGGTAAAGCTGTTTAAGAG	0.333																																						ENST00000586209.1																			0																																																			0							g.chr17:58066651C>T																													17.37:g.58066651C>T														0	158	+									RNA	SNP	ENST00000586209.1	37																																																																																						0.333	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			4	58	0	0	0	1	0	4	58				
LMCD1	29995	broad.mit.edu	37	3	8607273	8607273	+	Silent	SNP	A	A	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:8607273A>C	ENST00000157600.3	+	5	1111	c.879A>C	c.(877-879)gcA>gcC	p.A293A	LMCD1_ENST00000397386.3_Silent_p.A181A|LMCD1_ENST00000454244.1_Silent_p.A220A|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	293	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AGGATGGTGCACCCTGGTGCG	0.632																																						ENST00000157600.3																			0				breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16						c.(877-879)gcA>gcC		LIM and cysteine-rich domains 1							25.0	24.0	24.0					3																	8607273		2203	4300	6503	SO:0001819	synonymous_variant	29995				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	g.chr3:8607273A>C	AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.879A>C	3.37:g.8607273A>C						LMCD1_ENST00000454244.1_Silent_p.A220A|LMCD1_ENST00000397386.3_Silent_p.A181A|LMCD1-AS1_ENST00000439407.1_RNA	p.A293A	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.124)	5	1111	+			293			LIM zinc-binding 1.		B4DG80	Silent	SNP	ENST00000157600.3	37	c.879A>C	CCDS33688.1																																																																																				0.632	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583		25	141	0	0	0	1	0	25	141				
CHRD	8646	broad.mit.edu	37	3	184104344	184104344	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:184104344T>G	ENST00000204604.1	+	16	2243	c.1997T>G	c.(1996-1998)gTg>gGg	p.V666G	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.V666G|CHRD_ENST00000545352.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.V626G	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	666					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCGAGGGGGTGCGGGCGCTG	0.726																																						ENST00000204604.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1996-1998)gTg>gGg		chordin							3.0	4.0	3.0					3																	184104344		1677	3445	5122	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184104344T>G	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1997T>G	3.37:g.184104344T>G	ENSP00000204604:p.Val666Gly					CHRD_ENST00000348986.3_Missense_Mutation_p.V626G|CHRD_ENST00000450923.1_Missense_Mutation_p.V666G|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Intron	p.V666G	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	2243	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		666					O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.1997T>G	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.625293	0.28889	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000342610	T;T;T	0.14266	2.75;2.53;2.52	4.58	-6.5	0.01884	.	1.936180	0.02212	N	0.063242	T	0.10252	0.0251	L	0.27053	0.805	0.09310	N	0.999999	B;B;B	0.26845	0.161;0.032;0.025	B;B;B	0.24394	0.053;0.021;0.024	T	0.15492	-1.0435	10	0.17832	T	0.49	0.1754	14.5119	0.67794	0.0:0.1738:0.0:0.8262	.	626;666;666	Q9H2X0-5;E7ESX1;Q9H2X0	.;.;CHRD_HUMAN	G	666;666;626;379	ENSP00000204604:V666G;ENSP00000408972:V666G;ENSP00000334036:V626G	ENSP00000204604:V666G	V	+	2	0	CHRD	185587038	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.285000	0.01153	-1.320000	0.02283	-0.479000	0.04858	GTG		0.726	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		7	35	0	0	0	1	0	7	35				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240900	39240900	+	Missense_Mutation	SNP	T	T	G	rs61746948	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:39240900T>G	ENST00000391417.4	+	1	442	c.442T>G	c.(442-444)Ttg>Gtg	p.L148V		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	203	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TCCCCGCCCCTTGTGCTGTGC	0.627																																						ENST00000391417.4																			0				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(442-444)Ttg>Gtg		keratin associated protein 4-7							84.0	82.0	82.0					17																	39240900		692	1591	2283	SO:0001583	missense	100132476							g.chr17:39240900T>G	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.442T>G	17.37:g.39240900T>G	ENSP00000375236:p.Leu148Val						p.L148V	NM_033061.3	NP_149050.3					1	442	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.442T>G	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.836702	0.00069	.	.	ENSG00000240871	ENST00000391417	T	0.00584	6.4	3.99	-3.22	0.05125	.	.	.	.	.	T	0.00271	0.0008	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40136	-0.9579	8	0.02654	T	1	.	6.1576	0.20346	0.6045:0.0:0.2635:0.132	.	203	Q9BYR0	KRA47_HUMAN	V	148	ENSP00000375236:L148V	ENSP00000375236:L148V	L	+	1	2	KRTAP4-7	36494426	0.000000	0.05858	0.598000	0.28837	0.004000	0.04260	-0.333000	0.07894	-2.223000	0.00726	-4.761000	0.00003	TTG		0.627	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			5	37	0	0	0	1	0	5	37				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709020	22709020	+	RNA	SNP	C	C	T	rs78927311	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:22709020C>T	ENST00000314246.8	-	0	1376				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											GGCCAGCTGCCGAAGCCTCTC	0.622													T|||	4614	0.921326	0.8616	0.9121	5008	,	,		5073	0.995		0.8996	False		,,,				2504	0.955					ENST00000314246.8																			0																																																			0							g.chr15:22709020C>T			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709020C>T														0	1376	-									RNA	SNP	ENST00000314246.8	37			417	0.19093406593406592	111	0.22560975609756098	77	0.212707182320442	102	0.17832167832167833	127	0.16754617414248021	.	4.260	0.047262	0.08243	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.678	-0.651	0.11454	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	N	0.999996	B	0.12013	0.005	B	0.04013	0.001	T	0.29058	-1.0024	6	0.02654	T	1	.	3.5646	0.07895	0.0:0.5235:0.0:0.4765	.	160	F8WBT8	.	Q	160;160;378	.	ENSP00000327024:R160Q	R	-	2	0	AC116165.1	20260384	0.956000	0.32656	0.041000	0.18516	0.141000	0.21300	0.000000	0.12993	-0.412000	0.07519	0.000000	0.15137	CGG		0.622	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		16	141	0	0	0	1	0	16	141				
ESPL1	9700	broad.mit.edu	37	12	53683280	53683280	+	Missense_Mutation	SNP	G	G	A	rs200673617		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:53683280G>A	ENST00000257934.4	+	22	5106	c.5015G>A	c.(5014-5016)cGc>cAc	p.R1672H	ESPL1_ENST00000552462.1_Missense_Mutation_p.R1672H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1672					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCCCTGGCCCGCATCCAGCGC	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		17034	0.0		0.001	False		,,,				2504	0.0				Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(5014-5016)cGc>cAc		extra spindle pole bodies homolog 1 (S. cerevisiae)							55.0	56.0	56.0					12																	53683280		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53683280G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5015G>A	12.37:g.53683280G>A	ENSP00000257934:p.Arg1672His					ESPL1_ENST00000552462.1_Missense_Mutation_p.R1672H	p.R1672H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			22	5106	+			1672						Missense_Mutation	SNP	ENST00000257934.4	37	c.5015G>A	CCDS8852.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.87	2.959273	0.53400	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12569	2.67;2.67	5.26	4.27	0.50696	.	0.326875	0.34110	N	0.004252	T	0.08758	0.0217	N	0.17082	0.46	0.31480	N	0.66728	B	0.17465	0.022	B	0.10450	0.005	T	0.04551	-1.0943	10	0.52906	T	0.07	.	9.3148	0.37928	0.1058:0.0:0.8942:0.0	.	1672	Q14674	ESPL1_HUMAN	H	1672;1347;1672	ENSP00000257934:R1672H;ENSP00000449831:R1672H	ENSP00000257934:R1672H	R	+	2	0	ESPL1	51969547	0.077000	0.21312	1.000000	0.80357	0.976000	0.68499	0.633000	0.24598	1.289000	0.44618	0.563000	0.77884	CGC		0.597	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		7	535	0	0	0	1	0	7	535				
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1				BMS1 pseudogene 20																		CAGATGCGTCTGAAGAAACAT	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661478T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661478T>G								NR_027293.1						0	368	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	326	0	0	0	1	0	5	326				
NUAK1	9891	broad.mit.edu	37	12	106532400	106532400	+	Missense_Mutation	SNP	T	T	C	rs201298691		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:106532400T>C	ENST00000261402.2	-	1	1411	c.32A>G	c.(31-33)gAc>gGc	p.D11G		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	11					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GTCGGGGCGGTCCCCCGCCAC	0.771																																						ENST00000261402.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(31-33)gAc>gGc		NUAK family, SNF1-like kinase, 1							4.0	5.0	5.0					12																	106532400		2004	3866	5870	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106532400T>C	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.32A>G	12.37:g.106532400T>C	ENSP00000261402:p.Asp11Gly						p.D11G	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN			1	1411	-			11					A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.32A>G	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	T	5.712	0.315837	0.10789	.	.	ENSG00000074590	ENST00000261402;ENST00000359413	T	0.72942	-0.7	2.76	1.52	0.23074	.	0.497641	0.16531	U	0.210347	T	0.44456	0.1294	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.08055	0.003	T	0.31024	-0.9958	10	0.49607	T	0.09	.	4.6048	0.12372	0.0:0.1699:0.0:0.8301	.	11	O60285	NUAK1_HUMAN	G	11	ENSP00000261402:D11G	ENSP00000261402:D11G	D	-	2	0	NUAK1	105056530	0.000000	0.05858	0.774000	0.31636	0.236000	0.25371	-0.289000	0.08365	1.154000	0.42482	0.260000	0.18958	GAC		0.771	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		5	18	0	0	0	1	0	5	18				
RYR1	6261	broad.mit.edu	37	19	38958370	38958370	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:38958370G>A	ENST00000359596.3	+	25	3299	c.3299G>A	c.(3298-3300)cGc>cAc	p.R1100H	RYR1_ENST00000355481.4_Missense_Mutation_p.R1100H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1100H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1100	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGCGAGATGCGCGTGGGCTGG	0.627																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3298-3300)cGc>cAc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						88.0	75.0	79.0					19																	38958370		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38958370G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3299G>A	19.37:g.38958370G>A	ENSP00000352608:p.Arg1100His					RYR1_ENST00000359596.3_Missense_Mutation_p.R1100H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1100H	p.R1100H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		25	3430	+	all_cancers(60;7.91e-06)		1100			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3299G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	18.16	3.562473	0.65538	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.71341	-0.56;-0.56;-0.56	2.94	2.94	0.34122	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.177658	0.34200	U	0.004163	D	0.87916	0.6298	H	0.95780	3.72	0.47905	D	0.999549	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.91875	0.5511	10	0.87932	D	0	.	14.772	0.69688	0.0:0.0:1.0:0.0	.	1100;1100	P21817-2;P21817	.;RYR1_HUMAN	H	1100	ENSP00000352608:R1100H;ENSP00000347667:R1100H;ENSP00000354254:R1100H	ENSP00000347667:R1100H	R	+	2	0	RYR1	43650210	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.329000	0.96413	1.972000	0.57404	0.403000	0.27427	CGC		0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			50	637	0	0	0	1	0	50	637				
ADAMTS12	81792	broad.mit.edu	37	5	33561211	33561211	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:33561211G>A	ENST00000504830.1	-	20	4381	c.4046C>T	c.(4045-4047)gCg>gTg	p.A1349V	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.A1264V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1349	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGGATGGCCGCACAGTCAGA	0.572										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(4045-4047)gCg>gTg		ADAM metallopeptidase with thrombospondin type 1 motif, 12							121.0	106.0	111.0					5																	33561211		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33561211G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4046C>T	5.37:g.33561211G>A	ENSP00000422554:p.Ala1349Val	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.A1264V	p.A1349V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			20	4381	-			1349			TSP type-1 5.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4046C>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	7.591	0.670770	0.14776	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.53423	0.62;0.62	5.4	0.94	0.19513	.	0.333481	0.31156	N	0.008146	T	0.27866	0.0686	N	0.21194	0.64	0.09310	N	1	P;P	0.37663	0.55;0.604	B;B	0.35655	0.131;0.207	T	0.13124	-1.0521	10	0.28530	T	0.3	.	8.2714	0.31846	0.0859:0.0:0.2699:0.6442	.	1264;1349	P58397-3;P58397	.;ATS12_HUMAN	V	1349;1264	ENSP00000422554:A1349V;ENSP00000344847:A1264V	ENSP00000344847:A1264V	A	-	2	0	ADAMTS12	33596968	0.005000	0.15991	0.000000	0.03702	0.031000	0.12232	1.347000	0.33975	0.223000	0.20920	0.650000	0.86243	GCG		0.572	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		8	666	0	0	0	1	0	8	666				
TUSC3	7991	broad.mit.edu	37	8	15601118	15601118	+	Missense_Mutation	SNP	C	C	T	rs554205458		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:15601118C>T	ENST00000503731.1	+	8	1082	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	TUSC3_ENST00000382020.4_Missense_Mutation_p.R312W|TUSC3_ENST00000506802.1_Missense_Mutation_p.R312W	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	312					cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TGGAAAAAGACGGAGTAAGTC	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		16791	0.0		0.0	False		,,,				2504	0.001					ENST00000382020.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28						c.(934-936)Cgg>Tgg		tumor suppressor candidate 3							189.0	208.0	201.0					8																	15601118		2203	4300	6503	SO:0001583	missense	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15601118C>T	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.934C>T	8.37:g.15601118C>T	ENSP00000424544:p.Arg312Trp					TUSC3_ENST00000506802.1_Missense_Mutation_p.R312W|TUSC3_ENST00000503731.1_Missense_Mutation_p.R312W	p.R312W	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	8	1142	+			312					A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	c.934C>T	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376707	0.82682	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000503731	T;T;T	0.79141	-1.24;-1.12;-1.24	5.55	3.44	0.39384	.	0.000000	0.85682	D	0.000000	D	0.83811	0.5335	L	0.55990	1.75	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.978	D	0.85068	0.0938	10	0.87932	D	0	-15.4138	11.6623	0.51354	0.5333:0.4667:0.0:0.0	.	312;312;312	D6RIY7;Q13454-2;Q13454	.;.;TUSC3_HUMAN	W	312	ENSP00000371450:R312W;ENSP00000425777:R312W;ENSP00000424544:R312W	ENSP00000221167:R312W	R	+	1	2	TUSC3	15645489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.589000	0.53972	1.440000	0.47531	0.585000	0.79938	CGG		0.393	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		26	815	0	0	0	1	0	26	815				
ZNF536	9745	broad.mit.edu	37	19	30935498	30935498	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:30935498C>T	ENST00000355537.3	+	2	1176	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	343					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGTCGGCCAACGAGTTCCGCT	0.647																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1027-1029)aaC>aaT		zinc finger protein 536							89.0	100.0	97.0					19																	30935498		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935498C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1029C>T	19.37:g.30935498C>T							p.N343N	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1176	+	Esophageal squamous(110;0.0834)		343					A2RU18	Silent	SNP	ENST00000355537.3	37	c.1029C>T	CCDS32984.1																																																																																				0.647	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		124	1123	0	0	0	1	0	124	1123				
NBPF14	25832	broad.mit.edu	37	1	148012531	148012531	+	Silent	SNP	C	C	T	rs370426022		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:148012531C>T	ENST00000369219.1	-	12	1444	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.K476K(2)|p.K476N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGCCAACATGCTTTTCCTCCA	0.443																																						ENST00000369219.1																			3	Substitution - coding silent(2)|Substitution - Missense(1)	p.K476K(2)|p.K476N(1)	prostate(2)|endometrium(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1426-1428)aaG>aaA		neuroblastoma breakpoint family, member 14							4.0	3.0	3.0					1																	148012531		897	1999	2896	SO:0001819	synonymous_variant	25832					cytoplasm		g.chr1:148012531C>T	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1428G>A	1.37:g.148012531C>T							p.K476K			Q5TI25	NBPFE_HUMAN			12	1444	-	all_hematologic(923;0.032)		476			NBPF 5.		Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37	c.1428G>A		.	.	.	.	.	.	.	.	.	.	-	0.191	-1.053181	0.01965	.	.	ENSG00000122497	ENST00000310701;ENST00000392972;ENST00000426874	.	.	.	.	.	.	.	.	.	.	.	T	0.05410	0.0143	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29027	-1.0025	2	.	.	.	.	.	.	.	.	.	.	.	N	482;487;487	.	.	S	-	2	0	NBPF14	146479155	0.938000	0.31826	0.000000	0.03702	0.000000	0.00434	-1.468000	0.02350	-1.826000	0.01205	-1.864000	0.00558	AGC		0.443	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		5	67	0	0	0	1	0	5	67				
LAP3	51056	broad.mit.edu	37	4	17579127	17579127	+	Silent	SNP	C	C	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:17579127C>G	ENST00000226299.4	+	1	313	c.39C>G	c.(37-39)gtC>gtG	p.V13V	LAP3_ENST00000606142.1_5'UTR	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	13					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GGCGAGTAGTCGTCCGACGTC	0.697																																						ENST00000226299.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						c.(37-39)gtC>gtG		leucine aminopeptidase 3							23.0	22.0	22.0					4																	17579127		2198	4289	6487	SO:0001819	synonymous_variant	51056				proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	g.chr4:17579127C>G	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.39C>G	4.37:g.17579127C>G						LAP3_ENST00000606142.1_5'UTR	p.V13V	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN			1	313	+			13					B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Silent	SNP	ENST00000226299.4	37	c.39C>G	CCDS3422.1																																																																																				0.697	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			5	37	0	0	0	1	0	5	37				
ZBED9	114821	broad.mit.edu	37	6	28539892	28539892	+	Silent	SNP	A	A	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:28539892A>G	ENST00000452236.2	-	4	4391	c.3774T>C	c.(3772-3774)ccT>ccC	p.P1258P		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						cagcaagctcaggatagtcat	0.358																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(3772-3774)ccT>ccC		SCAN domain containing 3							67.0	70.0	69.0					6																	28539892		2203	4300	6503	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28539892A>G																												ENST00000452236.2:c.3774T>C	6.37:g.28539892A>G							p.P1258P	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			4	4391	-			1258						Silent	SNP	ENST00000452236.2	37	c.3774T>C	CCDS34355.1																																																																																				0.358	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			13	351	0	0	0	1	0	13	351				
CDH22	64405	broad.mit.edu	37	20	44838993	44838993	+	Silent	SNP	G	G	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr20:44838993G>T	ENST00000372262.3	-	6	1639	c.1239C>A	c.(1237-1239)gtC>gtA	p.V413V	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.V413V	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	413	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCACCACGCCGACCAGGGAGC	0.771																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1237-1239)gtC>gtA		cadherin 22, type 2							2.0	3.0	3.0					20																	44838993		1641	3403	5044	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44838993G>T	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1239C>A	20.37:g.44838993G>T						CDH22_ENST00000537909.1_Silent_p.V413V|CDH22_ENST00000474438.1_5'UTR	p.V413V	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			6	1639	-		Myeloproliferative disorder(115;0.0122)	413			Cadherin 4.		B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.1239C>A	CCDS13395.1																																																																																				0.771	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		6	32	1	0	0.00116845	1	0.00119986	6	32				
PDGFRB	5159	broad.mit.edu	37	5	149506172	149506172	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:149506172G>A	ENST00000261799.4	-	11	2054	c.1585C>T	c.(1585-1587)Ccc>Tcc	p.P529S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	529					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCTTAAAGGGCAAGGCTGGA	0.557			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""		"""MPD, AML, CMML, CML"""		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(1585-1587)Ccc>Tcc		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						96.0	76.0	83.0					5																	149506172		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149506172G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1585C>T	5.37:g.149506172G>A	ENSP00000261799:p.Pro529Ser						p.P529S	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	2054	-		all_hematologic(541;0.224)	529					B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.1585C>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495535	0.26774	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.76060	-0.99	4.62	4.62	0.57501	.	0.000000	0.52532	D	0.000070	D	0.83008	0.5161	M	0.64997	1.995	0.40691	D	0.982397	D;D	0.89917	0.972;1.0	P;D	0.68621	0.694;0.959	T	0.80714	-0.1259	10	0.22109	T	0.4	.	17.8409	0.88715	0.0:0.0:1.0:0.0	.	529;529	A8KAM8;P09619	.;PGFRB_HUMAN	S	529;199	ENSP00000261799:P529S	ENSP00000261799:P529S	P	-	1	0	PDGFRB	149486365	1.000000	0.71417	0.993000	0.49108	0.142000	0.21351	3.976000	0.56867	2.285000	0.76669	0.455000	0.32223	CCC		0.557	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		4	236	0	0	0	1	0	4	236				
CSMD2	114784	broad.mit.edu	37	1	34068135	34068135	+	Missense_Mutation	SNP	C	C	A	rs370588035		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:34068135C>A	ENST00000373380.1	-	22	3383	c.3163G>T	c.(3163-3165)Ggg>Tgg	p.G1055W	CSMD2_ENST00000373388.2_Missense_Mutation_p.G281W|CSMD2_ENST00000489419.1_5'Flank|CSMD2_ENST00000373381.4_Missense_Mutation_p.G2182W|CSMD2_ENST00000373377.1_Missense_Mutation_p.G281W			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2184	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G2184W(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGATGTTCCCGCCACAAGGG	0.592																																						ENST00000373381.4																			1	Substitution - Missense(1)	p.G2184W(1)	lung(1)	NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(6544-6546)Ggg>Tgg		CUB and Sushi multiple domains 2							44.0	40.0	41.0					1																	34068135		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34068135C>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.3163G>T	1.37:g.34068135C>A	ENSP00000362478:p.Gly1055Trp					CSMD2_ENST00000373388.2_Missense_Mutation_p.G281W|CSMD2_ENST00000373380.1_Missense_Mutation_p.G1055W|CSMD2_ENST00000373377.1_Missense_Mutation_p.G281W	p.G2182W	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			43	6720	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2184			CUB 13.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.6544G>T		.	.	.	.	.	.	.	.	.	.	C	16.62	3.175302	0.57692	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.49	4.58	0.56647	Complement control module (1);CUB (5);	0.064020	0.64402	D	0.000005	T	0.71048	0.3294	H	0.96805	3.885	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.994;0.998	D;D;D	0.91635	0.999;0.937;0.985	T	0.79077	-0.1951	10	0.41790	T	0.15	.	13.4343	0.61076	0.0:0.9247:0.0:0.0753	.	1055;2184;2182	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	W	2182;1055;281;281	ENSP00000362479:G2182W;ENSP00000362478:G1055W;ENSP00000362475:G281W;ENSP00000362486:G281W	ENSP00000241312:G2184W	G	-	1	0	CSMD2	33840722	1.000000	0.71417	0.931000	0.37212	0.399000	0.30720	4.986000	0.63851	1.331000	0.45412	0.655000	0.94253	GGG		0.592	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		4	58	1	0	0.150653	1	0.151446	4	58				
PROP1	5626	broad.mit.edu	37	5	177421251	177421251	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:177421251C>T	ENST00000308304.2	-	2	506	c.198G>A	c.(196-198)ccG>ccA	p.P66P		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	66					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.P66P(2)		endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGGGAGTGCGGGCGGCCCC	0.662																																						ENST00000308304.2																			2	Substitution - coding silent(2)	p.P66P(2)	large_intestine(1)|lung(1)	endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13						c.(196-198)ccG>ccA		PROP paired-like homeobox 1							34.0	37.0	36.0					5																	177421251		2203	4300	6503	SO:0001819	synonymous_variant	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177421251C>T	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"""Homeoboxes / PRD class"""	9455	protein-coding gene	gene with protein product		601538	"""prophet of Pit1, paired-like homeodomain transcription factor"""			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.198G>A	5.37:g.177421251C>T							p.P66P	NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	506	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	66						Silent	SNP	ENST00000308304.2	37	c.198G>A	CCDS4430.1																																																																																				0.662	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		5	393	0	0	0	1	0	5	393				
LRRC37A6P	387646	broad.mit.edu	37	10	27535842	27535842	+	lincRNA	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr10:27535842C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							AAGTTGAATGCAGTCCCAGCG	0.458																																						ENST00000574842.1																			0																																																			0							g.chr10:27535842C>T																													10.37:g.27535842C>T														0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.458	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			5	417	0	0	0	1	0	5	417				
PRF1	5551	broad.mit.edu	37	10	72358782	72358782	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr10:72358782C>T	ENST00000441259.1	-	3	855	c.695G>A	c.(694-696)cGc>cAc	p.R232H	PRF1_ENST00000373209.2_Missense_Mutation_p.R232H	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	232	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGCCGATATGCGGCCACCCAG	0.657			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"""various leukaemia, lymphoma"""			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23	GRCh37	CM021668	PRF1	M		c.(694-696)cGc>cAc		perforin 1 (pore forming protein)							56.0	50.0	52.0					10																	72358782		2203	4300	6503	SO:0001583	missense	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358782C>T	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.695G>A	10.37:g.72358782C>T	ENSP00000398568:p.Arg232His					PRF1_ENST00000373209.2_Missense_Mutation_p.R232H	p.R232H	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	855	-			232			MACPF.		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.695G>A	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733686	0.69189	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.84873	-1.91;-1.91	5.76	3.9	0.45041	Membrane attack complex component/perforin (MACPF) domain (3);	0.489144	0.21436	N	0.074564	D	0.87317	0.6147	M	0.68952	2.095	0.28340	N	0.921407	D	0.65815	0.995	P	0.55785	0.784	T	0.80955	-0.1151	10	0.48119	T	0.1	-49.3741	8.5644	0.33531	0.0:0.7593:0.0:0.2407	.	232	P14222	PERF_HUMAN	H	232	ENSP00000362305:R232H;ENSP00000398568:R232H	ENSP00000316746:R232H	R	-	2	0	PRF1	72028788	0.002000	0.14202	0.888000	0.34837	0.739000	0.42172	-0.019000	0.12546	1.424000	0.47217	0.655000	0.94253	CGC		0.657	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		5	334	0	0	0	1	0	5	334				
PLIN4	729359	broad.mit.edu	37	19	4513206	4513206	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:4513206C>T	ENST00000301286.3	-	3	723	c.724G>A	c.(724-726)Ggt>Agt	p.G242S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	242	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)		p.G170S(1)|p.G242S(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTGTCCACACCGGTCTGAATG	0.572																																						ENST00000301286.3																			2	Substitution - Missense(2)	p.G170S(1)|p.G242S(1)	lung(2)	NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(724-726)Ggt>Agt		perilipin 4							145.0	155.0	151.0					19																	4513206		2099	4221	6320	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4513206C>T	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.724G>A	19.37:g.4513206C>T	ENSP00000301286:p.Gly242Ser						p.G242S	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	723	-			242			27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.724G>A	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730100	0.69074	.	.	ENSG00000167676	ENST00000301286	T	0.15256	2.44	4.54	4.54	0.55810	.	0.116646	0.38548	N	0.001659	T	0.32852	0.0843	L	0.58428	1.81	0.18873	N	0.999986	D	0.76494	0.999	P	0.60173	0.87	T	0.07616	-1.0763	10	0.87932	D	0	-29.92	12.7755	0.57445	0.0:1.0:0.0:0.0	.	242	Q96Q06	PLIN4_HUMAN	S	242	ENSP00000301286:G242S	ENSP00000301286:G242S	G	-	1	0	PLIN4	4464206	0.000000	0.05858	0.068000	0.19968	0.023000	0.10783	0.243000	0.18106	2.076000	0.62316	0.511000	0.50034	GGT		0.572	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		30	1035	0	0	0	1	0	30	1035				
KLF12	11278	broad.mit.edu	37	13	74420080	74420080	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr13:74420080C>T	ENST00000377669.2	-	3	580	c.554G>A	c.(553-555)cGc>cAc	p.R185H	KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Missense_Mutation_p.R185H	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	185					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		CACGGGGATGCGGTGAACATG	0.502																																						ENST00000377669.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(553-555)cGc>cAc		Kruppel-like factor 12							115.0	96.0	102.0					13																	74420080		2203	4300	6503	SO:0001583	missense	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74420080C>T	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6346	protein-coding gene	gene with protein product	"""KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor"""	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.554G>A	13.37:g.74420080C>T	ENSP00000366897:p.Arg185His					KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Missense_Mutation_p.R185H	p.R185H	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	3	580	-		Prostate(6;0.00217)|Breast(118;0.0838)	185					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Missense_Mutation	SNP	ENST00000377669.2	37	c.554G>A	CCDS9449.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422541	0.62622	.	.	ENSG00000118922	ENST00000377669;ENST00000342812;ENST00000377666	T;T	0.41758	0.99;0.99	6.02	6.02	0.97574	.	0.045465	0.85682	D	0.000000	T	0.56485	0.1988	L	0.42245	1.32	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.38067	-0.9678	10	0.22109	T	0.4	.	19.1188	0.93353	0.0:1.0:0.0:0.0	.	185	Q9Y4X4	KLF12_HUMAN	H	185	ENSP00000366897:R185H;ENSP00000366894:R185H	ENSP00000344057:R185H	R	-	2	0	KLF12	73318081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.778000	0.68940	2.865000	0.98341	0.655000	0.94253	CGC		0.502	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		5	388	0	0	0	1	0	5	388				
MUL1	79594	broad.mit.edu	37	1	20827710	20827710	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:20827710G>A	ENST00000264198.3	-	4	668	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	178					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R178W(1)		endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCTTTGGGCCGCTCACCGCTG	0.582																																						ENST00000264198.3																			1	Substitution - Missense(1)	p.R178W(1)	large_intestine(1)	endometrium(2)|large_intestine(4)|lung(5)	11						c.(532-534)Cgg>Tgg		mitochondrial E3 ubiquitin protein ligase 1							86.0	86.0	86.0					1																	20827710		2203	4300	6503	SO:0001583	missense	79594				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:20827710G>A	BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"""RING-type (C3HC4) zinc fingers"""	25762	protein-coding gene	gene with protein product	"""ring finger protein 218"", ""mitochondria-anchored protein ligase"", ""growth inhibition and death E3 ligase"", ""mitochondrial ubiquitin ligase activator of NFKB 1"""	612037	"""chromosome 1 open reading frame 166"""	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.532C>T	1.37:g.20827710G>A	ENSP00000264198:p.Arg178Trp						p.R178W	NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	4	668	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	178					B5M497|Q7Z431|Q9H9B5	Missense_Mutation	SNP	ENST00000264198.3	37	c.532C>T	CCDS208.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230677	0.79688	.	.	ENSG00000090432	ENST00000264198	T	0.26373	1.74	6.17	3.05	0.35203	.	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	T	0.49234	-0.8961	10	0.51188	T	0.08	-34.0517	13.3594	0.60646	0.0:0.0:0.5937:0.4063	.	178	Q969V5	MUL1_HUMAN	W	178	ENSP00000264198:R178W	ENSP00000264198:R178W	R	-	1	2	MUL1	20700297	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.410000	0.59774	0.866000	0.35629	0.655000	0.94253	CGG		0.582	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007951.1	NM_024544		8	702	0	0	0	1	0	8	702				
ZNF679	168417	broad.mit.edu	37	7	63726845	63726845	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:63726845C>T	ENST00000421025.1	+	5	1103	c.834C>T	c.(832-834)agC>agT	p.S278S	ZNF679_ENST00000255746.4_Silent_p.S278S	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AAGCCTTTAGCCGCTCCTCAA	0.438																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(832-834)agC>agT		zinc finger protein 679							33.0	33.0	33.0					7																	63726845		692	1591	2283	SO:0001819	synonymous_variant	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63726845C>T	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.834C>T	7.37:g.63726845C>T						ZNF679_ENST00000255746.4_Silent_p.S278S	p.S278S	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			5	1103	+			278						Silent	SNP	ENST00000421025.1	37	c.834C>T	CCDS47592.1																																																																																				0.438	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		5	292	0	0	0	1	0	5	292				
NID2	22795	broad.mit.edu	37	14	52495453	52495453	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr14:52495453C>T	ENST00000216286.5	-	11	2516	c.2517G>A	c.(2515-2517)cgG>cgA	p.R839R	NID2_ENST00000541773.1_Silent_p.R786R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	839	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGCAAGTATGCCGGTCATCTG	0.453																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(2515-2517)cgG>cgA		nidogen 2 (osteonidogen)							93.0	87.0	89.0					14																	52495453		2203	4300	6503	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52495453C>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2517G>A	14.37:g.52495453C>T						NID2_ENST00000541773.1_Silent_p.R786R	p.R839R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			11	2516	-	Breast(41;0.0639)|all_epithelial(31;0.123)		839			EGF-like 3; calcium-binding (Potential).		A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.2517G>A	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	4.761	0.141516	0.09083	.	.	ENSG00000087303	ENST00000556572	.	.	.	5.94	0.438	0.16560	.	.	.	.	.	T	0.31040	0.0784	.	.	.	0.21473	N	0.999672	.	.	.	.	.	.	T	0.27157	-1.0082	4	.	.	.	.	6.4789	0.22051	0.0:0.5716:0.1166:0.3118	.	.	.	.	T	156	.	.	A	-	1	0	NID2	51565203	0.034000	0.19679	0.053000	0.19242	0.679000	0.39708	0.210000	0.17455	0.026000	0.15269	-0.251000	0.11542	GCA		0.453	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			5	349	0	0	0	1	0	5	349				
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:65222986G>T	ENST00000442266.1	+	0	578				SNORA15_ENST00000384058.1_RNA|SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		GAATTCTGGCGTTTTTTACAA	0.289																																						ENST00000442266.1																			0																																																			0							g.chr7:65222986G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222986G>T														0	578	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.289	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		5	85	1	0	5.18039e-06	1	5.40686e-06	5	85				
WBSCR27	155368	broad.mit.edu	37	7	73249275	73249275	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:73249275G>C	ENST00000297873.4	-	6	585	c.536C>G	c.(535-537)gCt>gGt	p.A179G		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	179										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				GGCCTCCAGAGCCTCCTTGTA	0.662																																						ENST00000297873.4																			0				NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5						c.(535-537)gCt>gGt		Williams Beuren syndrome chromosome region 27							42.0	42.0	42.0					7																	73249275		2203	4300	6503	SO:0001583	missense	155368							g.chr7:73249275G>C	AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.536C>G	7.37:g.73249275G>C	ENSP00000297873:p.Ala179Gly						p.A179G	NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN			6	585	-		Lung NSC(55;0.159)	179						Missense_Mutation	SNP	ENST00000297873.4	37	c.536C>G	CCDS5561.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254788	0.22965	.	.	ENSG00000165171	ENST00000297873	T	0.35789	1.29	5.25	0.986	0.19784	.	0.490245	0.21283	N	0.077111	T	0.22898	0.0553	L	0.48642	1.525	0.09310	N	1	P	0.44627	0.839	B	0.38562	0.276	T	0.09552	-1.0669	10	0.23302	T	0.38	-1.5537	4.1074	0.10043	0.1799:0.0:0.4992:0.3208	.	179	Q8N6F8	WBS27_HUMAN	G	179	ENSP00000297873:A179G	ENSP00000297873:A179G	A	-	2	0	WBSCR27	72887211	0.000000	0.05858	0.073000	0.20177	0.598000	0.36846	-0.042000	0.12063	0.604000	0.29930	0.549000	0.68633	GCT		0.662	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252312.1	NM_152559		63	267	0	0	0	1	0	63	267				
KIFC3	3801	broad.mit.edu	37	16	57829005	57829005	+	Missense_Mutation	SNP	C	C	T	rs369201056|rs147903082	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:57829005C>T	ENST00000379655.4	-	3	478	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	KIFC3_ENST00000541240.1_Missense_Mutation_p.R96Q|KIFC3_ENST00000465878.2_5'UTR|KIFC3_ENST00000421376.2_5'UTR|KIFC3_ENST00000539578.1_5'UTR|KIFC3_ENST00000445690.2_Missense_Mutation_p.R74Q|KIFC3_ENST00000566975.1_5'UTR	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	74					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				AGCTGCACTTCGGGCACTGGA	0.637																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(220-222)cGa>cAa		kinesin family member C3							43.0	48.0	46.0					16																	57829005		2198	4300	6498	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57829005C>T	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.221G>A	16.37:g.57829005C>T	ENSP00000368976:p.Arg74Gln					KIFC3_ENST00000541240.1_Missense_Mutation_p.R96Q|KIFC3_ENST00000539578.1_5'UTR|KIFC3_ENST00000445690.2_Missense_Mutation_p.R74Q|KIFC3_ENST00000421376.2_5'UTR|KIFC3_ENST00000566975.1_5'UTR|KIFC3_ENST00000465878.2_5'UTR	p.R74Q	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			3	478	-		all_neural(199;0.224)	74					A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.221G>A	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388000	0.82902	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000541240	T;T;T	0.77620	-1.11;-1.11;-1.11	6.02	3.91	0.45181	.	0.594661	0.16213	N	0.224391	T	0.58366	0.2117	N	0.14661	0.345	0.26776	N	0.969701	B;B	0.16166	0.016;0.016	B;B	0.06405	0.002;0.001	T	0.48502	-0.9030	10	0.41790	T	0.15	.	6.028	0.19665	0.0:0.7526:0.0:0.2474	.	96;74	B7Z484;Q9BVG8	.;KIFC3_HUMAN	Q	74;74;96	ENSP00000368976:R74Q;ENSP00000401696:R74Q;ENSP00000442008:R96Q	ENSP00000368976:R74Q	R	-	2	0	KIFC3	56386506	0.845000	0.29573	0.048000	0.18961	0.928000	0.56348	1.270000	0.33086	1.572000	0.49736	0.655000	0.94253	CGA		0.637	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		27	182	0	0	0	1	0	27	182				
APBA1	320	broad.mit.edu	37	9	72131100	72131100	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:72131100G>A	ENST00000265381.4	-	2	1249	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	343					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ATGGCATCGCGCTTCTCCTTG	0.706																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1027-1029)Cgc>Tgc		amyloid beta (A4) precursor protein-binding, family A, member 1							80.0	59.0	66.0					9																	72131100		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131100G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1027C>T	9.37:g.72131100G>A	ENSP00000265381:p.Arg343Cys						p.R343C	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	1249	-			343					O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.1027C>T	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472528	0.63737	.	.	ENSG00000107282	ENST00000265381	T	0.06142	3.34	5.86	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.14743	0.0356	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.01413	-1.1361	10	0.56958	D	0.05	-12.8155	13.123	0.59338	0.0:0.0:0.1396:0.8604	.	343	Q02410	APBA1_HUMAN	C	343	ENSP00000265381:R343C	ENSP00000265381:R343C	R	-	1	0	APBA1	71320920	0.992000	0.36948	1.000000	0.80357	0.977000	0.68977	1.460000	0.35244	1.055000	0.40461	-0.262000	0.10625	CGC		0.706	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		25	394	0	0	0	1	0	25	394				
MXRA5	25878	broad.mit.edu	37	X	3240231	3240231	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:3240231C>T	ENST00000217939.6	-	5	3649	c.3495G>A	c.(3493-3495)cgG>cgA	p.R1165R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1165						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTTGCTTGTGCCGGTGGCGGA	0.498																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(3493-3495)cgG>cgA		matrix-remodelling associated 5							124.0	126.0	125.0					X																	3240231		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3240231C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3495G>A	X.37:g.3240231C>T							p.R1165R	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	3649	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1165					Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.3495G>A	CCDS14124.1																																																																																				0.498	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		5	471	0	0	0	1	0	5	471				
ZC3H4	23211	broad.mit.edu	37	19	47575243	47575243	+	Silent	SNP	T	T	A	rs392366		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:47575243T>A	ENST00000253048.5	-	13	1975	c.1938A>T	c.(1936-1938)gcA>gcT	p.A646A	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	646	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		cgtgcatgtctgcgtgcatgt	0.662																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(1936-1938)gcA>gcT		zinc finger CCCH-type containing 4		C		1,4247		0,1,2123	31.0	36.0	34.0		1938	-10.4	0.0	19	dbSNP_80	34	6,8510		0,6,4252	no	coding-synonymous	ZC3H4	NM_015168.1		0,7,6375	AA,AT,TT		0.0705,0.0235,0.0548		646/1304	47575243	7,12757	2124	4258	6382	SO:0001819	synonymous_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47575243T>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1938A>T	19.37:g.47575243T>A						ZC3H4_ENST00000594019.1_Intron	p.A646A	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	13	1975	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	646			Pro-rich.		Q9Y420	Silent	SNP	ENST00000253048.5	37	c.1938A>T	CCDS42582.1																																																																																				0.662	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			3	83	0	0	0	1	0	3	83				
STXBP5	134957	broad.mit.edu	37	6	147525792	147525792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:147525792C>T	ENST00000321680.6	+	1	124	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	STXBP5-AS1_ENST00000427394.1_RNA|STXBP5_ENST00000367481.3_Nonsense_Mutation_p.Q42*|STXBP5_ENST00000367480.3_Nonsense_Mutation_p.Q42*|STXBP5_ENST00000179882.6_5'Flank|STXBP5_ENST00000546097.1_Nonsense_Mutation_p.Q42*|STXBP5-AS1_ENST00000417502.1_RNA|STXBP5-AS1_ENST00000367477.3_RNA	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	42					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GGAAACGCTCCAGTCCGAGCA	0.632																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(124-126)Cag>Tag		syntaxin binding protein 5 (tomosyn)							34.0	39.0	37.0					6																	147525792		2203	4300	6503	SO:0001587	stop_gained	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147525792C>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.124C>T	6.37:g.147525792C>T	ENSP00000321826:p.Gln42*					STXBP5_ENST00000367480.3_Nonsense_Mutation_p.Q42*|STXBP5_ENST00000321680.6_Nonsense_Mutation_p.Q42*|STXBP5_ENST00000546097.1_Nonsense_Mutation_p.Q42*	p.Q42*	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	1	232	+		Ovarian(120;0.0164)	42					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Nonsense_Mutation	SNP	ENST00000321680.6	37	c.124C>T	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	39	7.312511	0.98203	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	.	.	.	4.1	4.1	0.47936	.	0.071281	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3379	0.83071	0.0:1.0:0.0:0.0	.	.	.	.	X	42	.	ENSP00000321826:Q42X	Q	+	1	0	STXBP5	147567485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.835000	0.75344	1.830000	0.53286	0.591000	0.81541	CAG		0.632	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			17	156	0	0	0	1	0	17	156				
FANCC	2176	broad.mit.edu	37	9	97864014	97864014	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:97864014A>G	ENST00000289081.3	-	15	1906	c.1652T>C	c.(1651-1653)cTt>cCt	p.L551P	FANCC_ENST00000375305.1_Missense_Mutation_p.L551P	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	551					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				CAGCTCTTTAAGGAGCTCTCG	0.542			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000289081.3			yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group C"""			L		"""AML, leukemia"""			0				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(1651-1653)cTt>cCt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group C							65.0	61.0	62.0					9																	97864014		2203	4300	6503	SO:0001583	missense	2176	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	protein complex assembly	cytosol|nucleoplasm	protein binding	g.chr9:97864014A>G	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.1652T>C	9.37:g.97864014A>G	ENSP00000289081:p.Leu551Pro					FANCC_ENST00000375305.1_Missense_Mutation_p.L551P	p.L551P	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN			15	1906	-		Acute lymphoblastic leukemia(62;0.138)	551					B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	37	c.1652T>C	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.829233	0.50845	.	.	ENSG00000158169	ENST00000289081;ENST00000375305	T;T	0.56776	0.44;0.44	4.76	4.76	0.60689	.	0.080287	0.51477	D	0.000081	T	0.68742	0.3034	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72235	-0.4352	10	0.87932	D	0	-15.4197	11.7773	0.51993	1.0:0.0:0.0:0.0	.	551	Q00597	FANCC_HUMAN	P	551	ENSP00000289081:L551P;ENSP00000364454:L551P	ENSP00000289081:L551P	L	-	2	0	FANCC	96903835	0.996000	0.38824	0.900000	0.35374	0.257000	0.26127	4.471000	0.60182	2.001000	0.58596	0.459000	0.35465	CTT		0.542	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		18	180	0	0	0	1	0	18	180				
NLGN3	54413	broad.mit.edu	37	X	70389238	70389238	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:70389238G>A	ENST00000358741.3	+	8	2141	c.1838G>A	c.(1837-1839)cGa>cAa	p.R613Q	NLGN3_ENST00000374051.3_Missense_Mutation_p.R593Q|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.R573Q	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	613					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCAAGGGTCCGAGATCATTAC	0.522																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(1777-1779)cGa>cAa		neuroligin 3							54.0	43.0	47.0					X																	70389238		2202	4298	6500	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70389238G>A	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1838G>A	X.37:g.70389238G>A	ENSP00000351591:p.Arg613Gln					NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.R573Q|NLGN3_ENST00000358741.3_Missense_Mutation_p.R613Q	p.R593Q	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			7	2100	+	Renal(35;0.156)		613					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.1778G>A	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349596	0.82132	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000358741	T;T;T	0.59224	0.28;0.28;0.28	4.96	4.96	0.65561	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.68860	0.3047	L	0.48218	1.51	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.996	P;D;P	0.63877	0.756;0.919;0.641	T	0.70299	-0.4910	10	0.51188	T	0.08	.	17.4934	0.87711	0.0:0.0:1.0:0.0	.	573;613;593	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	Q	573;593;613	ENSP00000445298:R573Q;ENSP00000363163:R593Q;ENSP00000351591:R613Q	ENSP00000351591:R613Q	R	+	2	0	NLGN3	70305963	1.000000	0.71417	0.988000	0.46212	0.987000	0.75469	7.816000	0.86201	2.315000	0.78130	0.431000	0.28591	CGA		0.522	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		17	48	0	0	0	1	0	17	48				
ZC3H4	23211	broad.mit.edu	37	19	47575245	47575245	+	Missense_Mutation	SNP	C	C	G	rs381976		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:47575245C>G	ENST00000253048.5	-	13	1973	c.1936G>C	c.(1936-1938)Gca>Cca	p.A646P	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	646	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		tgcatgtctgcgtgcatgtca	0.662																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(1936-1938)Gca>Cca		zinc finger CCCH-type containing 4							31.0	35.0	34.0					19																	47575245		2118	4259	6377	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47575245C>G	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1936G>C	19.37:g.47575245C>G	ENSP00000253048:p.Ala646Pro					ZC3H4_ENST00000594019.1_Intron	p.A646P	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	13	1973	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	646			Pro-rich.		Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.1936G>C	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	G	1.939	-0.444005	0.04604	.	.	ENSG00000130749	ENST00000253048	T	0.17528	2.27	5.21	5.21	0.72293	.	0.405917	0.24076	N	0.041773	T	0.08044	0.0201	N	0.08118	0	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.32877	-0.9890	10	0.02654	T	1	.	13.2185	0.59873	0.0:0.1603:0.8397:0.0	rs381976;rs381976	646	Q9UPT8	ZC3H4_HUMAN	P	646	ENSP00000253048:A646P	ENSP00000253048:A646P	A	-	1	0	ZC3H4	52267085	1.000000	0.71417	0.916000	0.36221	0.011000	0.07611	4.019000	0.57181	1.200000	0.43188	-0.132000	0.14878	GCA		0.662	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			4	76	0	0	0	1	0	4	76				
COL25A1	84570	broad.mit.edu	37	4	109784477	109784477	+	Missense_Mutation	SNP	T	T	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:109784477T>C	ENST00000399132.1	-	21	1680	c.1150A>G	c.(1150-1152)Aag>Gag	p.K384E	COL25A1_ENST00000399126.1_Missense_Mutation_p.K384E|COL25A1_ENST00000399127.1_Missense_Mutation_p.K380E	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TAACTCACCTTTGGTCCGGGG	0.438																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(1150-1152)Aag>Gag		collagen, type XXV, alpha 1							55.0	56.0	56.0					4																	109784477		1823	4082	5905	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109784477T>C	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1150A>G	4.37:g.109784477T>C	ENSP00000382083:p.Lys384Glu					COL25A1_ENST00000399126.1_Missense_Mutation_p.K384E|COL25A1_ENST00000399127.1_Missense_Mutation_p.K380E	p.K384E	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	21	1680	-		Hepatocellular(203;0.217)	384			Collagen-like 5.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1150A>G	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	T	17.83	3.485354	0.63962	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.93247	-1.75;-3.19;-1.75	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.95953	0.8682	M	0.69358	2.11	0.80722	D	1	D;D	0.69078	0.99;0.997	D;D	0.79108	0.979;0.992	D	0.95671	0.8723	9	.	.	.	-5.8371	15.6433	0.77025	0.0:0.0:0.0:1.0	.	384;384	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	E	384;386;365;380;384;314	ENSP00000382083:K384E;ENSP00000382078:K380E;ENSP00000382077:K384E	.	K	-	1	0	COL25A1	110003926	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	6.008000	0.70739	2.084000	0.62774	0.528000	0.53228	AAG		0.438	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		26	181	0	0	0	1	0	26	181				
HAND2	9464	broad.mit.edu	37	4	174450243	174450243	+	Silent	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:174450243G>A	ENST00000359562.4	-	1	1137	c.198C>T	c.(196-198)ccC>ccT	p.P66P	HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000515345.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000507062.1_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000504429.1_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000503474.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000505032.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	66					adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|protein homodimerization activity (GO:0042803)|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 regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TGGCATACTCGGGGCTGTAGG	0.741																																						ENST00000359562.4																			0				endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13						c.(196-198)ccC>ccT		heart and neural crest derivatives expressed 2							5.0	7.0	6.0					4																	174450243		2004	3977	5981	SO:0001819	synonymous_variant	9464				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity	g.chr4:174450243G>A	AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"""Basic helix-loop-helix proteins"""	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.198C>T	4.37:g.174450243G>A						HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2_ENST00000505300.1_5'UTR	p.P66P	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	1137	-		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)	66					B6ECG9|O95300|O95301|P97833|Q494T1	Silent	SNP	ENST00000359562.4	37	c.198C>T	CCDS3819.1																																																																																				0.741	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362241.3			8	60	0	0	0	1	0	8	60				
PI4KA	5297	broad.mit.edu	37	22	21064273	21064273	+	Silent	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:21064273G>A	ENST00000572273.1	-	53	6152	c.5922C>T	c.(5920-5922)gaC>gaT	p.D1974D	PI4KA_ENST00000255882.6_Silent_p.D2032D|PI4KA_ENST00000414196.3_Silent_p.D784D			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1974	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGACGACCGCGTCCATGTAGG	0.612																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(6094-6096)gaC>gaT		phosphatidylinositol 4-kinase, catalytic, alpha							98.0	79.0	86.0					22																	21064273		2203	4300	6503	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21064273G>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.5922C>T	22.37:g.21064273G>A						PI4KA_ENST00000414196.3_Silent_p.D784D|PI4KA_ENST00000572273.1_Silent_p.D1974D	p.D2032D	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		53	6182	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1974					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.6096C>T																																																																																					0.612	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		5	383	0	0	0	1	0	5	383				
DMGDH	29958	broad.mit.edu	37	5	78326807	78326807	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:78326807C>T	ENST00000255189.3	-	10	1560	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	DMGDH_ENST00000540686.1_Missense_Mutation_p.R131H|DMGDH_ENST00000380311.4_Missense_Mutation_p.R310H	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	511					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCAGTTTGTGCGGCGAAAACT	0.398																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1531-1533)cGc>cAc		dimethylglycine dehydrogenase							76.0	75.0	76.0					5																	78326807		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78326807C>T	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1532G>A	5.37:g.78326807C>T	ENSP00000255189:p.Arg511His					DMGDH_ENST00000380311.4_Missense_Mutation_p.R310H|DMGDH_ENST00000540686.1_Missense_Mutation_p.R131H	p.R511H	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	10	1560	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	511					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.1532G>A	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	C	34	5.357047	0.95854	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.94241	0.8151	M	0.90082	3.085	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.997;0.994	D;P;P;P	0.91635	0.999;0.829;0.856;0.722	D	0.94474	0.7687	10	0.72032	D	0.01	.	20.1931	0.98233	0.0:1.0:0.0:0.0	.	131;310;361;511	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	H	511;350;310;131;361	ENSP00000255189:R511H;ENSP00000430972:R350H;ENSP00000369667:R310H;ENSP00000439478:R131H	ENSP00000255189:R511H	R	-	2	0	DMGDH	78362563	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.729000	0.84864	2.771000	0.95319	0.563000	0.77884	CGC		0.398	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		5	264	0	0	0	1	0	5	264				
ZNF202	7753	broad.mit.edu	37	11	123597658	123597658	+	Missense_Mutation	SNP	C	C	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:123597658C>G	ENST00000529691.1	-	7	1213	c.994G>C	c.(994-996)Gat>Cat	p.D332H	ZNF202_ENST00000530393.1_Missense_Mutation_p.D332H|ZNF202_ENST00000336139.4_Missense_Mutation_p.D332H			O95125	ZN202_HUMAN	zinc finger protein 202	332					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		AAACTCAGATCTTCCTGCTCC	0.468																																						ENST00000336139.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(994-996)Gat>Cat		zinc finger protein 202							133.0	157.0	149.0					11																	123597658		2189	4253	6442	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123597658C>G	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.994G>C	11.37:g.123597658C>G	ENSP00000433881:p.Asp332His					ZNF202_ENST00000530393.1_Missense_Mutation_p.D332H|ZNF202_ENST00000529691.1_Missense_Mutation_p.D332H	p.D332H			O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	8	1356	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	332					B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.994G>C	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	C	2.212	-0.380550	0.05000	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.06142	3.34;3.34;3.34	3.05	1.11	0.20524	.	0.388682	0.18961	N	0.126414	T	0.03915	0.0110	N	0.22421	0.69	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.36841	-0.9731	10	0.48119	T	0.1	-6.0238	4.3374	0.11092	0.0:0.6303:0.2357:0.1341	.	332	O95125	ZN202_HUMAN	H	332	ENSP00000337724:D332H;ENSP00000432504:D332H;ENSP00000433881:D332H	ENSP00000337724:D332H	D	-	1	0	ZNF202	123102868	0.000000	0.05858	0.456000	0.27044	0.378000	0.30076	0.100000	0.15231	0.316000	0.23135	-0.140000	0.14226	GAT		0.468	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		174	1483	0	0	0	1	0	174	1483				
POTEA	340441	broad.mit.edu	37	8	43197470	43197470	+	RNA	SNP	C	C	T	rs373140737		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:43197470C>T	ENST00000522175.2	+	0	1223							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGATTTTAACGGTAGGACCA	0.373																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A		C	,	0,3718		0,0,1859	120.0	113.0	115.0		1221,1359	-0.5	0.4	8		115	1,8187		0,1,4093	no	coding-synonymous-near-splice,coding-synonymous-near-splice	POTEA	NM_001002920.1,NM_001005365.2	,	0,1,5952	TT,TC,CC		0.0122,0.0,0.0084	,	407/453,453/499	43197470	1,11905	1859	4094	5953			340441							g.chr8:43197470C>T	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43197470C>T										Q6S8J7	POTEA_HUMAN			0	1223	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.373	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		7	741	0	0	0	1	0	7	741				
ACHE	43	broad.mit.edu	37	7	100491142	100491142	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:100491142C>T	ENST00000412389.1	-	1	867	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	ACHE_ENST00000419336.2_Missense_Mutation_p.A238T|ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000241069.5_Missense_Mutation_p.A238T|ACHE_ENST00000302913.4_Missense_Mutation_p.A238T|ACHE_ENST00000411582.1_Missense_Mutation_p.A238T|ACHE_ENST00000428317.1_Missense_Mutation_p.A238T			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	238					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	CCCACCGAGGCGGCTCCCGCG	0.706																																						ENST00000302913.4																			0				large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16						c.(712-714)Gcc>Acc		acetylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						32.0	34.0	34.0					7																	100491142		2199	4295	6494	SO:0001583	missense	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100491142C>T		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.712G>A	7.37:g.100491142C>T	ENSP00000394976:p.Ala238Thr					ACHE_ENST00000411582.1_Missense_Mutation_p.A238T|ACHE_ENST00000419336.2_Missense_Mutation_p.A238T|ACHE_ENST00000241069.5_Missense_Mutation_p.A238T|ACHE_ENST00000412389.1_Missense_Mutation_p.A238T|ACHE_ENST00000428317.1_Missense_Mutation_p.A238T	p.A238T	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN			2	850	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		238					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	c.712G>A	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544391	0.45280	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451	T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.26	4.37	0.52481	Carboxylesterase, type B (1);	0.051896	0.85682	D	0.000000	T	0.45357	0.1338	M	0.67569	2.06	0.54753	D	0.999986	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.71656	0.974;0.929;0.955;0.952	T	0.31364	-0.9946	10	0.36615	T	0.2	.	11.5157	0.50520	0.0:0.9106:0.0:0.0894	.	238;238;238;238	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	T	238	ENSP00000403474:A238T;ENSP00000241069:A238T;ENSP00000414858:A238T;ENSP00000303211:A238T;ENSP00000394976:A238T;ENSP00000397143:A238T;ENSP00000399725:A238T;ENSP00000404865:A238T	ENSP00000241069:A238T	A	-	1	0	ACHE	100329078	1.000000	0.71417	0.142000	0.22268	0.010000	0.07245	5.843000	0.69424	1.185000	0.42971	0.491000	0.48974	GCC		0.706	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		37	406	0	0	0	1	0	37	406				
SLC25A23	79085	broad.mit.edu	37	19	6452423	6452423	+	Missense_Mutation	SNP	C	C	T	rs61729423	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:6452423C>T	ENST00000301454.4	-	8	1077	c.971G>A	c.(970-972)cGt>cAt	p.R324H	SLC25A23_ENST00000334510.5_Missense_Mutation_p.R324H|SLC25A23_ENST00000414491.2_Intron	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	324					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CTCCAGGATACGCCTGGCGCA	0.652													C|||	50	0.00998403	0.0008	0.0029	5008	,	,		15658	0.0		0.0099	False		,,,				2504	0.0378					ENST00000301454.4																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						c.(970-972)cGt>cAt		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23		C	HIS/ARG	11,4395	17.9+/-39.9	0,11,2192	39.0	35.0	36.0		971	-1.1	0.8	19	dbSNP_129	36	159,8441	75.4+/-138.0	0,159,4141	yes	missense	SLC25A23	NM_024103.2	29	0,170,6333	TT,TC,CC		1.8488,0.2497,1.3071	benign	324/469	6452423	170,12836	2203	4300	6503	SO:0001583	missense	79085				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr19:6452423C>T	AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"""Solute carriers"", ""EF-hand domain containing"""	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.971G>A	19.37:g.6452423C>T	ENSP00000301454:p.Arg324His					SLC25A23_ENST00000334510.5_Missense_Mutation_p.R324H|SLC25A23_ENST00000414491.2_Intron	p.R324H	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN			8	1077	-			324					B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Missense_Mutation	SNP	ENST00000301454.4	37	c.971G>A	CCDS32882.1	9	0.004120879120879121	0	0.0	1	0.0027624309392265192	0	0.0	8	0.010554089709762533	C	16.49	3.136971	0.56936	0.002497	0.018488	ENSG00000125648	ENST00000264088;ENST00000422102;ENST00000301454;ENST00000334510	T;T;T	0.79653	-1.29;-1.29;-1.29	5.46	-1.06	0.10002	Mitochondrial carrier domain (2);	0.262628	0.38164	N	0.001794	T	0.49626	0.1568	L	0.28274	0.84	0.34903	D	0.746684	B	0.10296	0.003	B	0.10450	0.005	T	0.55256	-0.8169	10	0.48119	T	0.1	-18.2413	9.6813	0.40072	0.0:0.2476:0.0:0.7524	.	324	Q9BV35	SCMC3_HUMAN	H	371;25;324;324	ENSP00000264088:R371H;ENSP00000301454:R324H;ENSP00000334537:R324H	ENSP00000264088:R371H	R	-	2	0	SLC25A23	6403423	1.000000	0.71417	0.843000	0.33291	0.829000	0.46940	1.625000	0.37029	-0.042000	0.13535	0.591000	0.81541	CGT		0.652	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103		45	135	0	0	0	1	0	45	135				
ZNF700	90592	broad.mit.edu	37	19	12059966	12059966	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:12059966C>G	ENST00000254321.5	+	4	1270	c.1127C>G	c.(1126-1128)tCa>tGa	p.S376*	ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000482090.1_Nonsense_Mutation_p.S358*|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCTGCCAAGTCATTTCAAACA	0.343																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1072-1074)tCa>tGa		zinc finger protein 700							54.0	58.0	57.0					19																	12059966		2203	4300	6503	SO:0001587	stop_gained	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12059966C>G	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1127C>G	19.37:g.12059966C>G	ENSP00000254321:p.Ser376*					ZNF700_ENST00000254321.5_Nonsense_Mutation_p.S376*|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron	p.S358*			Q9H0M5	ZN700_HUMAN			3	1491	+			376					B9EGU4	Nonsense_Mutation	SNP	ENST00000254321.5	37	c.1073C>G	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	c	17.49	3.403816	0.62288	.	.	ENSG00000196757	ENST00000254321	.	.	.	0.672	-1.06	0.10002	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	5.4976	0.16811	0.3204:0.6795:0.0:0.0	.	.	.	.	X	376	.	ENSP00000254321:S376X	S	+	2	0	ZNF700	11920966	0.000000	0.05858	0.001000	0.08648	0.220000	0.24768	-1.250000	0.02885	-0.270000	0.09285	0.305000	0.20034	TCA		0.343	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		107	320	0	0	0	1	0	107	320				
TTN	7273	broad.mit.edu	37	2	179614364	179614364	+	Intron	SNP	C	C	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:179614364C>A	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Nonsense_Mutation_p.E4255*|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACTATTTTCTCTATAAGTG	0.353																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(12763-12765)Gaa>Taa		titin							53.0	57.0	56.0					2																	179614364		2202	4298	6500	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179614364C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3486G>T	2.37:g.179614364C>A						TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA	p.E4255*	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12985	-			406					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.12763G>T		.	.	.	.	.	.	.	.	.	.	C	52	19.625844	0.99921	.	.	ENSG00000155657	ENST00000360870	.	.	.	6.06	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	3.1963	0.06634	0.3421:0.3843:0.1928:0.0808	.	.	.	.	X	4255	.	ENSP00000354117:E4255X	E	-	1	0	TTN	179322609	0.000000	0.05858	0.050000	0.19076	0.031000	0.12232	0.430000	0.21428	1.569000	0.49696	0.655000	0.94253	GAA		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		57	456	1	0	1.25972e-11	1	1.34417e-11	57	456				
KIF23	9493	broad.mit.edu	37	15	69715496	69715496	+	Splice_Site	SNP	A	A	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:69715496A>T	ENST00000260363.4	+	7	680		c.e7-1		KIF23_ENST00000559279.1_Splice_Site|KIF23_ENST00000395392.2_Splice_Site|KIF23_ENST00000352331.4_Splice_Site|KIF23_ENST00000558585.1_Splice_Site|KIF23_ENST00000537891.1_5'UTR	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TTCTTTTTTTAGACGACAAGT	0.383																																						ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.e7-1		kinesin family member 23							62.0	71.0	68.0					15																	69715496		2199	4298	6497	SO:0001630	splice_region_variant	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69715496A>T	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.564-1A>T	15.37:g.69715496A>T						KIF23_ENST00000352331.4_Splice_Site|KIF23_ENST00000537891.1_5'UTR|KIF23_ENST00000559279.1_Splice_Site|KIF23_ENST00000395392.2_Splice_Site|KIF23_ENST00000558585.1_Splice_Site		NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			7	680	+								Q8WVP0	Splice_Site	SNP	ENST00000260363.4	37		CCDS32278.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.992553	0.35131	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2697	0.66145	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF23	67502550	1.000000	0.71417	0.913000	0.36048	0.321000	0.28281	9.161000	0.94739	2.104000	0.64026	0.460000	0.39030	.		0.383	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding			Intron	7	375	0	0	0	1	0	7	375				
CHL1	10752	broad.mit.edu	37	3	433473	433473	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:433473T>A	ENST00000256509.2	+	23	3549	c.2907T>A	c.(2905-2907)taT>taA	p.Y969*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.Y953*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.Y969Y(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTTGCAATATCAGATAAGTA	0.318																																						ENST00000256509.2																			1	Substitution - coding silent(1)	p.Y969Y(1)	large_intestine(1)	NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(2905-2907)taT>taA		cell adhesion molecule L1-like							62.0	63.0	63.0					3																	433473		2203	4298	6501	SO:0001587	stop_gained	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:433473T>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2907T>A	3.37:g.433473T>A	ENSP00000256509:p.Tyr969*					CHL1_ENST00000397491.2_Nonsense_Mutation_p.Y953*	p.Y969*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	23	3549	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	953			Fibronectin type-III 4.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Nonsense_Mutation	SNP	ENST00000256509.2	37	c.2907T>A	CCDS2556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	45|45	11.791210|11.791210	0.99603|0.99603	.|.	.|.	ENSG00000134121|ENSG00000134121	ENST00000445697|ENST00000256509;ENST00000397491	.|.	.|.	.|.	5.62|5.62	1.71|1.71	0.24356|0.24356	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.20941|.	0.0504|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39461|.	-0.9613|.	3|.	.|0.02654	.|T	.|1	.|.	8.4022|8.4022	0.32592|0.32592	0.0:0.6048:0.0:0.3952|0.0:0.6048:0.0:0.3952	.|.	.|.	.|.	.|.	N|X	156|969;953	.|.	.|ENSP00000256509:Y969X	I|Y	+|+	2|3	0|2	CHL1|CHL1	408473|408473	0.532000|0.532000	0.26346|0.26346	0.997000|0.997000	0.53966|0.53966	0.933000|0.933000	0.57130|0.57130	-0.298000|-0.298000	0.08265|0.08265	0.017000|0.017000	0.15025|0.15025	-0.248000|-0.248000	0.11899|0.11899	ATC|TAT		0.318	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		30	350	0	0	0	1	0	30	350				
SPATA20	64847	broad.mit.edu	37	17	48631710	48631710	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:48631710G>A	ENST00000356488.4	+	14	2091	c.2008G>A	c.(2008-2010)Gtg>Atg	p.V670M	SPATA20_ENST00000006658.6_Missense_Mutation_p.V686M|CACNA1G-AS1_ENST00000505495.1_RNA|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.V626M|CACNA1G-AS1_ENST00000508920.1_RNA|CACNA1G-AS1_ENST00000505793.1_RNA	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	670					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GGACAAGTGTGTGTGCCTATT	0.632																																						ENST00000006658.6																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2056-2058)Gtg>Atg		spermatogenesis associated 20							147.0	108.0	121.0					17																	48631710		2203	4300	6503	SO:0001583	missense	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48631710G>A		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.2008G>A	17.37:g.48631710G>A	ENSP00000348878:p.Val670Met					SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.V626M|SPATA20_ENST00000356488.4_Missense_Mutation_p.V670M	p.V686M	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		15	2176	+	Breast(11;1.23e-18)		670					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	c.2056G>A	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569296	0.45798	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.22336	1.96;1.96;1.97	5.25	5.25	0.73442	.	0.289778	0.31636	N	0.007305	T	0.19327	0.0464	N	0.20685	0.6	0.30024	N	0.814049	P;B	0.37101	0.582;0.014	B;B	0.39738	0.308;0.062	T	0.04796	-1.0926	10	0.46703	T	0.11	-18.4208	18.8839	0.92367	0.0:0.0:1.0:0.0	.	670;686	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	M	686;670;626	ENSP00000006658:V686M;ENSP00000348878:V670M;ENSP00000376935:V626M	ENSP00000006658:V686M	V	+	1	0	SPATA20	45986709	0.993000	0.37304	0.846000	0.33378	0.806000	0.45545	2.212000	0.42835	2.467000	0.83353	0.561000	0.74099	GTG		0.632	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		74	508	0	0	0	1	0	74	508				
OR6F1	343169	broad.mit.edu	37	1	247875276	247875276	+	Missense_Mutation	SNP	C	C	T	rs149671274	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:247875276C>T	ENST00000302084.2	-	1	829	c.782G>A	c.(781-783)cGc>cAc	p.R261H	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GATAGAGGTGCGGACGTGAAG	0.517													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21156	0.0		0.0	False		,,,				2504	0.0					ENST00000302084.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(781-783)cGc>cAc		olfactory receptor, family 6, subfamily F, member 1		C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	97.0	93.0	95.0		782	3.7	0.0	1	dbSNP_134	95	0,8600		0,0,4300	yes	missense	OR6F1	NM_001005286.1	29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	261/309	247875276	3,13003	2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875276C>T	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.782G>A	1.37:g.247875276C>T	ENSP00000305640:p.Arg261His					RP11-634B7.4_ENST00000449298.1_RNA	p.R261H	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	829	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		261					B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.782G>A	CCDS31095.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.53	1.666716	0.29604	6.81E-4	0.0	ENSG00000169214	ENST00000302084	T	0.37752	1.18	3.72	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38111	N	0.001813	T	0.56077	0.1961	M	0.76838	2.35	0.09310	N	1	D	0.89917	1.0	D	0.65773	0.938	T	0.48875	-0.8996	10	0.87932	D	0	-15.3921	10.785	0.46401	0.1902:0.8098:0.0:0.0	.	261	Q8NGZ6	OR6F1_HUMAN	H	261	ENSP00000305640:R261H	ENSP00000305640:R261H	R	-	2	0	OR6F1	245941899	0.000000	0.05858	0.007000	0.13788	0.014000	0.08584	-0.028000	0.12350	2.057000	0.61298	0.591000	0.81541	CGC		0.517	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		99	515	0	0	0	1	0	99	515				
CYP4F11	57834	broad.mit.edu	37	19	16024596	16024596	+	Silent	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:16024596G>A	ENST00000402119.4	-	12	1947	c.1521C>T	c.(1519-1521)cgC>cgT	p.R507R	CYP4F11_ENST00000326742.8_3'UTR|CYP4F11_ENST00000248041.8_Silent_p.R507R|CYP4F11_ENST00000591841.1_Silent_p.R182R	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CACCCTCTGCGCGCAATATCA	0.612																																						ENST00000402119.3																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(1519-1521)cgC>cgT		cytochrome P450, family 4, subfamily F, polypeptide 11							60.0	55.0	57.0					19																	16024596		2203	4300	6503	SO:0001819	synonymous_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16024596G>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1521C>T	19.37:g.16024596G>A						CYP4F11_ENST00000248041.7_Silent_p.R507R|CYP4F11_ENST00000326742.7_3'UTR	p.R507R	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN			12	1947	-			507						Silent	SNP	ENST00000402119.4	37	c.1521C>T	CCDS12337.1																																																																																				0.612	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		23	211	0	0	0	1	0	23	211				
BIN2	51411	broad.mit.edu	37	12	51685907	51685907	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:51685907G>T	ENST00000267012.4	-	10	1044	c.983C>A	c.(982-984)gCa>gAa	p.A328E	BIN2_ENST00000544402.1_Missense_Mutation_p.A302E|BIN2_ENST00000604560.1_Missense_Mutation_p.A301E|BIN2_ENST00000452142.2_Missense_Mutation_p.A296E	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	328					cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						AGAGGAGCTTGCTTCAGATCC	0.547																																						ENST00000267012.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						c.(982-984)gCa>gAa		bridging integrator 2							64.0	59.0	60.0					12																	51685907		2203	4300	6503	SO:0001583	missense	51411					cytoplasm	protein binding	g.chr12:51685907G>T	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.983C>A	12.37:g.51685907G>T	ENSP00000267012:p.Ala328Glu					BIN2_ENST00000452142.2_Missense_Mutation_p.A296E|BIN2_ENST00000604560.1_Missense_Mutation_p.A301E|BIN2_ENST00000544402.1_Missense_Mutation_p.A302E	p.A328E	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN			10	1044	-			328					Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	c.983C>A	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	G	5.514	0.279708	0.10458	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	D;T;T	0.96745	-4.11;-0.09;-0.08	4.42	1.53	0.23141	.	1.455810	0.04136	N	0.318766	D	0.92694	0.7678	N	0.24115	0.695	0.09310	N	1	P;D;P	0.53462	0.928;0.96;0.933	P;P;B	0.51229	0.572;0.663;0.368	D	0.84506	0.0619	10	0.02654	T	1	1.1589	4.5791	0.12250	0.1995:0.1821:0.6185:0.0	.	302;296;328	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	E	296;328;302	ENSP00000410217:A296E;ENSP00000267012:A328E;ENSP00000445874:A302E	ENSP00000267012:A328E	A	-	2	0	BIN2	49972174	0.000000	0.05858	0.004000	0.12327	0.212000	0.24457	0.516000	0.22817	0.357000	0.24183	0.655000	0.94253	GCA		0.547	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			34	441	1	0	9.65021e-13	1	1.0355e-12	34	441				
OTX1	5013	broad.mit.edu	37	2	63283271	63283271	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:63283271C>T	ENST00000282549.2	+	5	1161	c.885C>T	c.(883-885)caC>caT	p.H295H	OTX1_ENST00000366671.3_Silent_p.H295H	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	295	His-rich.				anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					accaccaccaccatcaccacc	0.637																																						ENST00000282549.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(883-885)caC>caT		orthodenticle homeobox 1							102.0	77.0	85.0					2																	63283271		2203	4300	6503	SO:0001819	synonymous_variant	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283271C>T		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.885C>T	2.37:g.63283271C>T						OTX1_ENST00000366671.3_Silent_p.H295H	p.H295H	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN			5	1161	+	Lung NSC(7;0.121)|all_lung(7;0.211)		295			His-rich.		A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	c.885C>T	CCDS1873.1																																																																																				0.637	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			6	441	0	0	0	1	0	6	441				
CRB2	286204	broad.mit.edu	37	9	126125189	126125189	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:126125189G>A	ENST00000373631.3	+	2	141	c.140G>A	c.(139-141)tGc>tAc	p.C47Y	CRB2_ENST00000359999.3_Missense_Mutation_p.C47Y	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	47					cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCAGACCCGTGCGCTCCAGGG	0.647																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(139-141)tGc>tAc		crumbs homolog 2 (Drosophila)							53.0	59.0	57.0					9																	126125189		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126125189G>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.140G>A	9.37:g.126125189G>A	ENSP00000362734:p.Cys47Tyr					CRB2_ENST00000359999.3_Missense_Mutation_p.C47Y	p.C47Y	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			2	141	+			47					A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.140G>A	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425593	0.62733	.	.	ENSG00000148204	ENST00000359999;ENST00000373631	D;D	0.86562	-2.14;-2.01	4.7	4.7	0.59300	.	0.000000	0.47093	D	0.000248	D	0.92525	0.7626	M	0.91972	3.26	0.18873	N	0.999989	P;D	0.59357	0.936;0.985	P;P	0.55222	0.498;0.771	D	0.87265	0.2282	10	0.87932	D	0	.	11.4942	0.50398	0.0:0.3017:0.6983:0.0	.	47;47	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	Y	47	ENSP00000353092:C47Y;ENSP00000362734:C47Y	ENSP00000353092:C47Y	C	+	2	0	CRB2	125165010	0.163000	0.22920	0.432000	0.26747	0.490000	0.33462	1.102000	0.31050	2.452000	0.82932	0.448000	0.29417	TGC		0.647	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		88	673	0	0	0	1	0	88	673				
GRM6	2916	broad.mit.edu	37	5	178416069	178416069	+	Silent	SNP	C	C	A	rs544297690		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:178416069C>A	ENST00000517717.1	-	7	1259	c.1221G>T	c.(1219-1221)gcG>gcT	p.A407A	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.A407A			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	407					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.A407A(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGGCGTACACCGCATCAATCA	0.647																																						ENST00000231188.5																			1	Substitution - coding silent(1)	p.A407A(1)	endometrium(1)	NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1219-1221)gcG>gcT		glutamate receptor, metabotropic 6							150.0	128.0	135.0					5																	178416069		2203	4300	6503	SO:0001819	synonymous_variant	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178416069C>A	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1221G>T	5.37:g.178416069C>A						RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Silent_p.A407A	p.A407A	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	6	1399	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	407						Silent	SNP	ENST00000517717.1	37	c.1221G>T	CCDS4442.1																																																																																				0.647	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			4	201	1	0	0.00909568	1	0.00919193	4	201				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			8	917	0	0	0	1	0	8	917				
NCAM2	4685	broad.mit.edu	37	21	22658659	22658659	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr21:22658659C>T	ENST00000400546.1	+	4	657	c.408C>T	c.(406-408)tgC>tgT	p.C136C	NCAM2_ENST00000535285.1_Silent_p.C161C|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	136	Ig-like C2-type 2.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAGTGGTTTGCCGAGTTAGCA	0.398																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(406-408)tgC>tgT		neural cell adhesion molecule 2							120.0	114.0	116.0					21																	22658659		2018	4191	6209	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22658659C>T		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.408C>T	21.37:g.22658659C>T						NCAM2_ENST00000535285.1_Silent_p.C161C|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR	p.C136C	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	4	657	+		Lung NSC(9;0.195)	136			Ig-like C2-type 2.		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.408C>T	CCDS42910.1																																																																																				0.398	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		4	221	0	0	0	1	0	4	221				
IGLC2	3538	broad.mit.edu	37	22	23243367	23243367	+	RNA	SNP	T	T	C	rs8033		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:23243367T>C	ENST00000390323.2	+	0	212				IGLJ2_ENST00000390322.2_RNA			P0CG05	LAC2_HUMAN	immunoglobulin lambda constant 2 (Kern-Oz- marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CCAGCAGCTATCTGAGCCTGA	0.587																																						ENST00000390323.2																			0																				76.0	81.0	79.0					22																	23243367		2072	4132	6204			0							g.chr22:23243367T>C	J00253		22q11.2	2012-02-08			ENSG00000211677	ENSG00000211677		"""Immunoglobulins / IGL locus"""	5856	other	immunoglobulin gene				IGLC			Standard	NG_000002		Approved			P0CG05	OTTHUMG00000151214		22.37:g.23243367T>C														0	212	+								A0M8Q4|P80423	RNA	SNP	ENST00000390323.2	37																																																																																						0.587	IGLC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000321818.3	NG_000002		5	196	0	0	0	1	0	5	196				
ZEB2	9839	broad.mit.edu	37	2	145156919	145156919	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:145156919G>A	ENST00000558170.2	-	8	3019	c.1835C>T	c.(1834-1836)gCg>gTg	p.A612V	ZEB2_ENST00000303660.4_Missense_Mutation_p.A612V|ZEB2_ENST00000409487.3_Missense_Mutation_p.A612V|ZEB2_ENST00000539609.3_Missense_Mutation_p.A588V	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	612					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTGCAGGACCGCCTTGATCTC	0.433																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(1834-1836)gCg>gTg		zinc finger E-box binding homeobox 2							109.0	110.0	110.0					2																	145156919		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145156919G>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1835C>T	2.37:g.145156919G>A	ENSP00000454157:p.Ala612Val					ZEB2_ENST00000303660.4_Missense_Mutation_p.A612V|ZEB2_ENST00000539609.3_Missense_Mutation_p.A588V|ZEB2_ENST00000409487.3_Missense_Mutation_p.A612V	p.A612V	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3019	-			612					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.1835C>T	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848236	0.71603	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	T;T;T;T	0.15487	2.44;2.42;2.42;2.6	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.33527	0.0866	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.81914	0.991;0.98;0.98;0.995	T	0.03025	-1.1081	10	0.62326	D	0.03	-8.8128	19.9507	0.97198	0.0:0.0:1.0:0.0	.	588;477;611;612	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	V	588;612;612;612	ENSP00000443792:A588V;ENSP00000302501:A612V;ENSP00000386854:A612V;ENSP00000395496:A612V	ENSP00000302501:A612V	A	-	2	0	ZEB2	144873389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.705000	0.92388	0.655000	0.94253	GCG		0.433	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		48	483	0	0	0	1	0	48	483				
GCN1L1	10985	broad.mit.edu	37	12	120589168	120589168	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:120589168G>A	ENST00000300648.6	-	34	4102	c.4090C>T	c.(4090-4092)Cca>Tca	p.P1364S		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1364					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACAAGGGGTGGCAAGCAGCTG	0.612																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(4090-4092)Cca>Tca		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							26.0	29.0	28.0					12																	120589168		2121	4249	6370	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120589168G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4090C>T	12.37:g.120589168G>A	ENSP00000300648:p.Pro1364Ser						p.P1364S	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			34	4102	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1364					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.4090C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169822	0.57584	.	.	ENSG00000089154	ENST00000300648	T	0.62788	-0.0	5.39	5.39	0.77823	Armadillo-like helical (1);Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.71459	0.3342	M	0.62209	1.925	0.80722	D	1	D	0.55800	0.973	P	0.51945	0.685	T	0.73579	-0.3938	10	0.54805	T	0.06	-24.285	19.1478	0.93475	0.0:0.0:1.0:0.0	.	1364	Q92616	GCN1L_HUMAN	S	1364	ENSP00000300648:P1364S	ENSP00000300648:P1364S	P	-	1	0	GCN1L1	119073551	1.000000	0.71417	0.994000	0.49952	0.663000	0.39108	7.518000	0.81795	2.548000	0.85928	0.561000	0.74099	CCA		0.612	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			4	225	0	0	0	1	0	4	225				
COL11A2	1302	broad.mit.edu	37	6	33143414	33143414	+	Missense_Mutation	SNP	C	C	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:33143414C>A	ENST00000374708.4	-	28	2313	c.2055G>T	c.(2053-2055)gaG>gaT	p.E685D	COL11A2_ENST00000374713.1_Missense_Mutation_p.E724D|COL11A2_ENST00000374712.1_Missense_Mutation_p.E690D|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Missense_Mutation_p.E664D|COL11A2_ENST00000341947.2_Missense_Mutation_p.E771D|COL11A2_ENST00000357486.1_Missense_Mutation_p.E750D|COL11A2_ENST00000395197.1_Missense_Mutation_p.E711D|COL11A2_ENST00000374714.1_Missense_Mutation_p.E745D	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	771	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCTTTGGCCCCTCAGGACCAT	0.657																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(2311-2313)gaG>gaT		collagen, type XI, alpha 2							106.0	92.0	97.0					6																	33143414		1509	2709	4218	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33143414C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2055G>T	6.37:g.33143414C>A	ENSP00000363840:p.Glu685Asp					COL11A2_ENST00000374708.4_Missense_Mutation_p.E685D|COL11A2_ENST00000395197.1_Missense_Mutation_p.E711D|COL11A2_ENST00000374714.1_Missense_Mutation_p.E745D|COL11A2_ENST00000361917.1_Missense_Mutation_p.E664D|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.E724D|COL11A2_ENST00000357486.1_Missense_Mutation_p.E750D|COL11A2_ENST00000374712.1_Missense_Mutation_p.E690D	p.E771D	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			30	2540	-			771			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.2313G>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937110	0.52972	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	4.3	0.408	0.16377	.	0.063917	0.64402	D	0.000013	D	0.90359	0.6983	L	0.34521	1.04	0.48040	D	0.999577	P;B;D	0.67145	0.678;0.182;0.996	P;B;D	0.77004	0.645;0.315;0.989	D	0.88446	0.3045	10	0.62326	D	0.03	.	7.8121	0.29237	0.0:0.6189:0.0:0.3811	.	664;685;771	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	D	685;771;750;745;724;711;690;664	ENSP00000363840:E685D;ENSP00000339915:E771D;ENSP00000350079:E750D;ENSP00000363846:E745D;ENSP00000363845:E724D;ENSP00000378623:E711D;ENSP00000363844:E690D;ENSP00000355123:E664D	ENSP00000339915:E771D	E	-	3	2	COL11A2	33251392	1.000000	0.71417	0.918000	0.36340	0.984000	0.73092	0.805000	0.27112	-0.036000	0.13669	0.478000	0.44815	GAG		0.657	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			5	488	1	0	0.217242	1	0.217242	5	488				
DENND4B	9909	broad.mit.edu	37	1	153907297	153907297	+	Silent	SNP	C	C	T	rs557071025|rs544489048	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:153907297C>T	ENST00000361217.4	-	18	3130	c.2712G>A	c.(2710-2712)caG>caA	p.Q904Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	904	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgctgctgctgctgtt	0.632													c|||	1	0.000199681	0.0	0.0	5008	,	,		16455	0.0		0.0	False		,,,				2504	0.001					ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2710-2712)caG>caA		DENN/MADD domain containing 4B							28.0	36.0	33.0					1																	153907297		2179	4277	6456	SO:0001819	synonymous_variant	9909							g.chr1:153907297C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2712G>A	1.37:g.153907297C>T							p.Q904Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3130	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		904			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2712G>A	CCDS44228.1																																																																																				0.632	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		12	364	0	0	0	1	0	12	364				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		52	116	0	0	0	1	0	52	116				
APBA2	321	broad.mit.edu	37	15	29400578	29400578	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:29400578G>A	ENST00000558402.1	+	14	2622	c.2023G>A	c.(2023-2025)Gtg>Atg	p.V675M	APBA2_ENST00000411764.1_Missense_Mutation_p.V663M|APBA2_ENST00000561069.1_Missense_Mutation_p.V675M|APBA2_ENST00000558330.1_Missense_Mutation_p.V663M|APBA2_ENST00000558259.1_Missense_Mutation_p.V675M			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	675	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.V675M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGGCTTCAGCGTGCAGAATGG	0.607																																						ENST00000558402.1																			1	Substitution - Missense(1)	p.V675M(1)	kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(2023-2025)Gtg>Atg		amyloid beta (A4) precursor protein-binding, family A, member 2							163.0	147.0	153.0					15																	29400578		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29400578G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.2023G>A	15.37:g.29400578G>A	ENSP00000453293:p.Val675Met					APBA2_ENST00000561069.1_Missense_Mutation_p.V675M|APBA2_ENST00000558330.1_Missense_Mutation_p.V663M|APBA2_ENST00000411764.1_Missense_Mutation_p.V663M|APBA2_ENST00000558259.1_Missense_Mutation_p.V675M	p.V675M			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	14	2622	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	675			PDZ 2.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.2023G>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067196	0.76301	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.34072	1.38	4.27	4.27	0.50696	PDZ/DHR/GLGF (4);	0.151772	0.41500	D	0.000866	T	0.62913	0.2467	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.75020	0.939;0.914;0.985	T	0.70472	-0.4862	10	0.87932	D	0	.	16.2145	0.82195	0.0:0.0:1.0:0.0	.	663;663;675	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	M	663;675	ENSP00000409312:V663M	ENSP00000219865:V675M	V	+	1	0	APBA2	27187870	1.000000	0.71417	0.995000	0.50966	0.659000	0.38960	9.340000	0.97038	2.356000	0.79943	0.655000	0.94253	GTG		0.607	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		113	448	0	0	0	1	0	113	448				
PTPRG	5793	broad.mit.edu	37	3	61975386	61975386	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:61975386C>T	ENST00000474889.1	+	3	655	c.278C>T	c.(277-279)gCg>gTg	p.A93V	PTPRG_ENST00000295874.10_Missense_Mutation_p.A93V	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	93	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GACCAGTATGCGCGTGTTGGG	0.488																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(277-279)gCg>gTg		protein tyrosine phosphatase, receptor type, G							117.0	107.0	110.0					3																	61975386		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:61975386C>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.278C>T	3.37:g.61975386C>T	ENSP00000418112:p.Ala93Val					PTPRG_ENST00000295874.10_Missense_Mutation_p.A93V	p.A93V	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	3	655	+			93			Alpha-carbonic anhydrase.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.278C>T	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812150	0.70797	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.68025	-0.3;-0.3	5.92	5.92	0.95590	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.172596	0.50627	D	0.000104	T	0.53174	0.1780	N	0.25992	0.78	0.44547	D	0.997501	P;B	0.40931	0.733;0.044	B;B	0.27887	0.084;0.01	T	0.61058	-0.7139	10	0.72032	D	0.01	.	20.2995	0.98608	0.0:1.0:0.0:0.0	.	93;93	P23470-2;P23470	.;PTPRG_HUMAN	V	93	ENSP00000418112:A93V;ENSP00000295874:A93V	ENSP00000295874:A93V	A	+	2	0	PTPRG	61950426	0.997000	0.39634	0.967000	0.41034	0.967000	0.64934	5.697000	0.68295	2.799000	0.96334	0.655000	0.94253	GCG		0.488	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		6	387	0	0	0	1	0	6	387				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	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_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|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_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|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		8	269	0	0	0	1	0	8	269				
FBXO16	157574	broad.mit.edu	37	8	28314447	28314447	+	Splice_Site	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:28314447C>T	ENST00000380254.2	-	5	491	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	FBXO16_ENST00000518734.1_Splice_Site_p.V103M|RP11-181B11.2_ENST00000518819.1_RNA|RP11-181B11.2_ENST00000523935.1_RNA|FBXO16_ENST00000346498.2_Splice_Site_p.V103M|FBXO16_ENST00000517436.1_5'UTR	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	115	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TGCCAGCACACCTGGAAAAAC	0.428																																						ENST00000380254.2																			0				large_intestine(2)|ovary(1)	3						c.e5-1		F-box protein 16							51.0	47.0	48.0					8																	28314447		2203	4300	6503	SO:0001630	splice_region_variant	157574							g.chr8:28314447C>T	AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"""F-boxes /  ""other"""""	13618	protein-coding gene	gene with protein product		608519	"""F-box only protein 16"""			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.343-1G>A	8.37:g.28314447C>T						FBXO16_ENST00000346498.2_Splice_Site_p.V103_splice|FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000518734.1_Splice_Site_p.V103_splice	p.V115_splice	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)	5	491	-		Ovarian(32;2.06e-05)	115			F-box.		Q3T1B2|Q3T1B3|Q3T1B4	Splice_Site	SNP	ENST00000380254.2	37	c.342_splice	CCDS6068.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777186	0.70107	.	.	ENSG00000214050	ENST00000380254;ENST00000346498;ENST00000518734	T;T;T	0.72942	-0.7;-0.7;-0.7	5.74	5.74	0.90152	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.000000	0.64402	U	0.000003	D	0.90998	0.7169	H	0.98314	4.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	D	0.94043	0.7311	10	0.87932	D	0	-32.9433	18.8919	0.92408	0.0:1.0:0.0:0.0	.	103;103;115	Q3T1B3;Q3T1B2;Q8IX29	.;.;FBX16_HUMAN	M	115;103;103	ENSP00000369604:V115M;ENSP00000341416:V103M;ENSP00000429687:V103M	ENSP00000341416:V103M	V	-	1	0	FBXO16	28370366	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	7.499000	0.81566	2.723000	0.93209	0.650000	0.86243	GTG		0.428	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366	Missense_Mutation	22	259	0	0	0	1	0	22	259				
SLC12A7	10723	broad.mit.edu	37	5	1065587	1065587	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:1065587G>A	ENST00000264930.5	-	18	2291	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	750					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ATTAGGGACCGTATGTTCTGC	0.642																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2248-2250)Cgg>Tgg		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						46.0	46.0	46.0					5																	1065587		2203	4300	6503	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1065587G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2248C>T	5.37:g.1065587G>A	ENSP00000264930:p.Arg750Trp						p.R750W	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		18	2291	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		750					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2248C>T	CCDS34129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.66|12.66	2.004241|2.004241	0.35320|0.35320	.|.	.|.	ENSG00000113504|ENSG00000113504	ENST00000264930|ENST00000513223	D|.	0.92911|.	-3.13|.	4.49|4.49	4.49|4.49	0.54785|0.54785	.|.	0.071090|.	0.64402|.	D|.	0.000017|.	T|T	0.71779|0.71779	0.3380|0.3380	M|M	0.73962|0.73962	2.25|2.25	0.41225|0.41225	D|D	0.986537|0.986537	D|.	0.76494|.	0.999|.	P|.	0.58172|.	0.834|.	T|T	0.73291|0.73291	-0.4029|-0.4029	10|5	0.87932|.	D|.	0|.	.|.	11.8435|11.8435	0.52368|0.52368	0.0:0.0:0.8241:0.1759|0.0:0.0:0.8241:0.1759	.|.	750|.	Q9Y666|.	S12A7_HUMAN|.	W|M	750|107	ENSP00000264930:R750W|.	ENSP00000264930:R750W|.	R|T	-|-	1|2	2|0	SLC12A7|SLC12A7	1118587|1118587	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.056000|0.056000	0.15407|0.15407	2.862000|2.862000	0.48388|0.48388	2.055000|2.055000	0.61198|0.61198	0.467000|0.467000	0.42956|0.42956	CGG|ACG		0.642	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		6	302	0	0	0	1	0	6	302				
ZRANB3	84083	broad.mit.edu	37	2	136071117	136071117	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:136071117G>A	ENST00000264159.6	-	8	1024	c.908C>T	c.(907-909)gCc>gTc	p.A303V	ZRANB3_ENST00000401392.1_Missense_Mutation_p.A303V|ZRANB3_ENST00000536680.1_Missense_Mutation_p.A303V	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	303	DNA annealing helicase activity.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGTCTCCATGGCACCTGAATT	0.373																																						ENST00000401392.1																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(907-909)gCc>gTc		zinc finger, RAN-binding domain containing 3							154.0	148.0	150.0					2																	136071117		1859	4098	5957	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:136071117G>A	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.908C>T	2.37:g.136071117G>A	ENSP00000264159:p.Ala303Val					ZRANB3_ENST00000536680.1_Missense_Mutation_p.A303V|ZRANB3_ENST00000264159.6_Missense_Mutation_p.A303V	p.A303V			Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	8	1120	-			303					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.908C>T	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.841104	0.32513	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680;ENST00000397448	D;D;D	0.91068	-2.78;-2.78;-2.77	5.56	2.68	0.31781	.	0.387817	0.28214	N	0.016166	D	0.90442	0.7007	M	0.76170	2.325	0.19945	N	0.999946	B;B;B	0.20459	0.011;0.045;0.009	B;B;B	0.27170	0.018;0.077;0.015	T	0.80264	-0.1455	10	0.41790	T	0.15	-19.1055	16.6166	0.84917	0.0:0.3595:0.6405:0.0	.	243;303;303	E9PBP0;Q5FWF4;Q5FWF4-3	.;ZRAB3_HUMAN;.	V	303;303;303;243	ENSP00000383979:A303V;ENSP00000264159:A303V;ENSP00000441320:A303V	ENSP00000264159:A303V	A	-	2	0	ZRANB3	135787587	0.009000	0.17119	0.743000	0.31040	0.818000	0.46254	1.424000	0.34848	0.274000	0.22072	0.467000	0.42956	GCC		0.373	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		84	706	0	0	0	1	0	84	706				
POM121L9P	29774	broad.mit.edu	37	22	24659764	24659764	+	RNA	SNP	C	C	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:24659764C>G	ENST00000414583.2	+	0	3289					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		AGTGTCCTAACAGCCCTGCTT	0.627																																						ENST00000414583.2																			0																																																			0							g.chr22:24659764C>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659764C>G								NR_003714.1						0	3289	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.627	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	60	0	0	0	1	0	3	60				
HHIPL2	79802	broad.mit.edu	37	1	222716971	222716971	+	Silent	SNP	C	C	T	rs182148496	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:222716971C>T	ENST00000343410.6	-	2	940	c.882G>A	c.(880-882)tcG>tcA	p.S294S		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	294					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TGTCCAGGCACGAATAATAAA	0.473													C|||	2	0.000399361	0.0	0.0029	5008	,	,		21012	0.0		0.0	False		,,,				2504	0.0					ENST00000343410.6																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(880-882)tcG>tcA		HHIP-like 2							166.0	190.0	182.0					1																	222716971		2203	4300	6503	SO:0001819	synonymous_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222716971C>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.882G>A	1.37:g.222716971C>T							p.S294S	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	940	-			294					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	c.882G>A	CCDS1530.2																																																																																				0.473	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		393	1597	0	0	0	1	0	393	1597				
HIST1H4B	8366	broad.mit.edu	37	6	26027283	26027283	+	Silent	SNP	C	C	T	rs192365376		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:26027283C>T	ENST00000377364.3	-	1	197	c.198G>A	c.(196-198)gtG>gtA	p.V66V		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	66					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CGTCCCGGATCACGTTCTCCA	0.572											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377364.3																			0				large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(196-198)gtG>gtA		histone cluster 1, H4b							105.0	88.0	94.0					6																	26027283		2203	4300	6503	SO:0001819	synonymous_variant	8366				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26027283C>T	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.198G>A	6.37:g.26027283C>T			OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	783		p.V66V	NM_003544.2	NP_003535.1	P62805	H4_HUMAN			1	197	-			66					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000377364.3	37	c.198G>A	CCDS4572.1																																																																																				0.572	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		44	271	0	0	0	1	0	44	271				
HOXC11	3227	broad.mit.edu	37	12	54367353	54367353	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:54367353G>A	ENST00000546378.1	+	1	444	c.328G>A	c.(328-330)Gtc>Atc	p.V110I	HOXC11_ENST00000243082.4_Missense_Mutation_p.V110I|HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11	110					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						TCCTTCCACCGTCACCGAGAT	0.642			T	NUP98	AML																																	ENST00000546378.1				Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				large_intestine(1)|ovary(1)	2						c.(328-330)Gtc>Atc		homeobox C11							100.0	116.0	110.0					12																	54367353		2203	4300	6503	SO:0001583	missense	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54367353G>A		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.328G>A	12.37:g.54367353G>A	ENSP00000446680:p.Val110Ile					HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.V110I|HOTAIR_ENST00000424518.1_RNA	p.V110I			O43248	HXC11_HUMAN			1	444	+			110					A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	c.328G>A	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489782	0.26686	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.42513	0.97;0.97	4.31	4.31	0.51392	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.044361	0.85682	D	0.000000	T	0.22704	0.0548	N	0.19112	0.55	0.35685	D	0.814374	B	0.32829	0.386	B	0.29598	0.104	T	0.21143	-1.0254	10	0.27082	T	0.32	.	6.6818	0.23125	0.1962:0.0:0.8038:0.0	.	110	O43248	HXC11_HUMAN	I	110	ENSP00000446680:V110I;ENSP00000243082:V110I	ENSP00000243082:V110I	V	+	1	0	HOXC11	52653620	1.000000	0.71417	0.993000	0.49108	0.966000	0.64601	4.899000	0.63245	2.386000	0.81285	0.555000	0.69702	GTC		0.642	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			327	1247	0	0	0	1	0	327	1247				
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537058.1_Silent_p.T343T|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						ENST00000537058.1																			5	Substitution - coding silent(5)	p.T343T(5)	kidney(3)|lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1027-1029)acC>acA		cell adhesion molecule 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T						CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000452722.2_Silent_p.T343T	p.T343T			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1049	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		8	380	1	0	0.000157383	1	0.000162488	8	380				
DST	667	broad.mit.edu	37	6	56357816	56357816	+	Silent	SNP	A	A	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:56357816A>T	ENST00000361203.3	-	79	19513	c.19506T>A	c.(19504-19506)ctT>ctA	p.L6502L	DST_ENST00000421834.2_Silent_p.L4525L|DST_ENST00000340834.4_5'Flank|DST_ENST00000446842.2_Silent_p.L6287L|DST_ENST00000244364.6_Silent_p.L4199L|DST_ENST00000370754.5_Silent_p.L6791L|DST_ENST00000370769.4_Silent_p.L6613L|DST_ENST00000370788.2_Silent_p.L4416L|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6502					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAGCCTGAGTAAGCCAGTTGA	0.428																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(20371-20373)ctT>ctA		dystonin							109.0	107.0	108.0					6																	56357816		1904	4141	6045	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56357816A>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19506T>A	6.37:g.56357816A>T						DST_ENST00000446842.2_Silent_p.L6287L|DST_ENST00000370788.2_Silent_p.L4416L|DST_ENST00000361203.3_Silent_p.L6502L|DST_ENST00000370769.4_Silent_p.L6613L|DST_ENST00000244364.6_Silent_p.L4199L|DST_ENST00000421834.2_Silent_p.L4525L|DST_ENST00000312431.6_3'UTR	p.L6791L			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		84	20372	-	Lung NSC(77;0.103)		6611					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.20373T>A																																																																																					0.428	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		17	108	0	0	0	1	0	17	108				
NPAP1	23742	broad.mit.edu	37	15	24924064	24924064	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:24924064G>A	ENST00000329468.2	+	1	3524	c.3050G>A	c.(3049-3051)gGt>gAt	p.G1017D		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1017					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CCTATGGATGGTGGGAGCATT	0.537																																						ENST00000329468.2																			0											c.(3049-3051)gGt>gAt		nuclear pore associated protein 1							61.0	57.0	59.0					15																	24924064		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24924064G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.3050G>A	15.37:g.24924064G>A	ENSP00000333735:p.Gly1017Asp						p.G1017D	NM_018958.2	NP_061831.2					1	3524	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.3050G>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.85	2.060752	0.36373	.	.	ENSG00000185823	ENST00000329468	T	0.06528	3.29	2.04	1.02	0.19986	.	2.011160	0.02104	N	0.054202	T	0.13200	0.0320	L	0.34521	1.04	0.09310	N	1	D	0.65815	0.995	D	0.63703	0.917	T	0.31308	-0.9948	10	0.22109	T	0.4	.	6.1507	0.20310	0.0:0.3225:0.6775:0.0	.	1017	Q9NZP6	CO002_HUMAN	D	1017	ENSP00000333735:G1017D	ENSP00000333735:G1017D	G	+	2	0	C15orf2	22475157	0.020000	0.18652	0.001000	0.08648	0.307000	0.27823	0.128000	0.15810	0.357000	0.24183	0.313000	0.20887	GGT		0.537	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		31	292	0	0	0	1	0	31	292				
FAM104B	90736	broad.mit.edu	37	X	55172537	55172537	+	Intron	SNP	G	G	A	rs1047054	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:55172537G>A	ENST00000358460.4	-	3	405				FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000425133.2_Nonsense_Mutation_p.R111*|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000478918.1_5'Flank			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B									p.R111*(5)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GCTTGCCCTCGCTGCTGCAGG	0.438																																						ENST00000425133.2																			5	Substitution - Nonsense(5)	p.R111*(5)	endometrium(3)|kidney(2)	endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(331-333)Cga>Tga		family with sequence similarity 104, member B							40.0	26.0	30.0					X																	55172537		692	1590	2282	SO:0001627	intron_variant	90736							g.chrX:55172537G>A	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"""chromosome X open reading frame 44"""	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.251+76C>T	X.37:g.55172537G>A						FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*	p.R111*	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN			3	369	-			0					A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Nonsense_Mutation	SNP	ENST00000358460.4	37	c.331C>T	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	g	15.79	2.937798	0.52972	.	.	ENSG00000182518	ENST00000425133;ENST00000477847;ENST00000489298	.	.	.	1.59	0.637	0.17735	.	.	.	.	.	.	.	.	.	.	.	0.26565	N	0.973663	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5036	0.11876	0.0:0.0:0.6198:0.3802	rs1047054;rs3175708;rs5003324	.	.	.	X	111;107;109	.	ENSP00000397188:R111X	R	-	1	2	FAM104B	55189262	0.997000	0.39634	0.180000	0.23079	0.415000	0.31203	1.026000	0.30103	0.126000	0.18424	0.429000	0.28392	CGA		0.438	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	NM_138362		4	151	0	0	0	1	0	4	151				
CCDC88B	283234	broad.mit.edu	37	11	64124622	64124622	+	3'UTR	SNP	G	G	A	rs61886888	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:64124622G>A	ENST00000356786.5	+	0	4531				CCDC88B_ENST00000359902.2_Missense_Mutation_p.G601R|CCDC88B_ENST00000463837.1_3'UTR|RPS6KA4_ENST00000528057.1_5'Flank|RPS6KA4_ENST00000294261.4_5'Flank|RPS6KA4_ENST00000334205.4_5'Flank|CCDC88B_ENST00000301897.4_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B							membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGTGTCAGCGGAGGCCCCAG	0.667													G|||	333	0.0664936	0.0204	0.0807	5008	,	,		16123	0.002		0.1948	False		,,,				2504	0.0532					ENST00000359902.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1801-1803)Gga>Aga		coiled-coil domain containing 88B		G		66,1318		0,66,626	45.0	43.0	44.0			-2.2	0.0	11	dbSNP_129	44	569,2613		47,475,1069	no	utr-3	CCDC88B	NM_032251.5		47,541,1695	AA,AG,GG		17.8818,4.7688,13.9071			64124622	635,3931	692	1591	2283	SO:0001624	3_prime_UTR_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64124622G>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.*56G>A	11.37:g.64124622G>A						CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000356786.5_3'UTR|CCDC88B_ENST00000301897.4_3'UTR	p.G601R			A6NC98	CC88B_HUMAN			14	1951	+			1424					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.1801G>A	CCDS8072.2	201	0.09203296703296704	9	0.018292682926829267	37	0.10220994475138122	0	0.0	155	0.20448548812664907	N	11.85	1.762383	0.31228	0.047688	0.178818	ENSG00000168071	ENST00000359902	T	0.59083	0.29	4.15	-2.22	0.06952	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.80722	P	0.0	B	0.15141	0.012	B	0.08055	0.003	T	0.13629	-1.0502	7	0.51188	T	0.08	.	0.5672	0.00689	0.203:0.1607:0.3095:0.3268	rs61886888	585	A6NC98-5	.	R	601	ENSP00000352974:G601R	ENSP00000352974:G601R	G	+	1	0	CCDC88B	63881198	0.370000	0.25047	0.000000	0.03702	0.144000	0.21451	1.621000	0.36986	-0.284000	0.09102	0.400000	0.26472	GGA		0.667	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		4	235	0	0	0	1	0	4	235				
MTMR12	54545	broad.mit.edu	37	5	32268842	32268842	+	Missense_Mutation	SNP	A	A	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:32268842A>T	ENST00000382142.3	-	6	718	c.548T>A	c.(547-549)cTg>cAg	p.L183Q	MTMR12_ENST00000264934.5_Missense_Mutation_p.L183Q|MTMR12_ENST00000280285.5_Missense_Mutation_p.L183Q	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	183						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATAGGAAAACAGAAATAATCG	0.388																																						ENST00000382142.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(547-549)cTg>cAg		myotubularin related protein 12							126.0	118.0	121.0					5																	32268842		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32268842A>T	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.548T>A	5.37:g.32268842A>T	ENSP00000371577:p.Leu183Gln					MTMR12_ENST00000280285.5_Missense_Mutation_p.L183Q|MTMR12_ENST00000264934.5_Missense_Mutation_p.L183Q	p.L183Q	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			6	718	-			183					Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.548T>A	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.464656	0.84425	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.82711	-1.64;-1.64;-1.64	5.6	5.6	0.85130	.	0.275863	0.30302	N	0.009935	D	0.89441	0.6716	L	0.57536	1.79	0.43703	D	0.996166	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.988;0.972	D	0.90263	0.4302	10	0.66056	D	0.02	.	15.798	0.78428	1.0:0.0:0.0:0.0	.	183;183;183	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	Q	183	ENSP00000280285:L183Q;ENSP00000371577:L183Q;ENSP00000264934:L183Q	ENSP00000264934:L183Q	L	-	2	0	MTMR12	32304599	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.048000	0.71046	2.140000	0.66376	0.528000	0.53228	CTG		0.388	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		87	373	0	0	0	1	0	87	373				
KRTAP4-9	100132386	broad.mit.edu	37	17	39262039	39262039	+	Missense_Mutation	SNP	C	C	G	rs370251849		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:39262039C>G	ENST00000391415.1	+	1	456	c.399C>G	c.(397-399)agC>agG	p.S133R		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	133	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S133R(1)|p.S121R(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						gtgtgtccagctgctgcaagc	0.652																																						ENST00000391415.1																			2	Substitution - Missense(2)	p.S133R(1)|p.S121R(1)	lung(2)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(397-399)agC>agG		keratin associated protein 4-9							7.0	13.0	11.0					17																	39262039		676	1567	2243	SO:0001583	missense	100132386					keratin filament		g.chr17:39262039C>G	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.399C>G	17.37:g.39262039C>G	ENSP00000375234:p.Ser133Arg						p.S133R	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	456	+			133			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Missense_Mutation	SNP	ENST00000391415.1	37	c.399C>G	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	12.64	1.997952	0.35226	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.38401	1.14	3.32	2.33	0.28932	.	11.718500	0.01159	U	0.006593	T	0.54679	0.1873	M	0.78223	2.4	0.32657	N	0.518627	P	0.49307	0.922	P	0.54100	0.742	T	0.30149	-0.9988	10	0.54805	T	0.06	.	5.7349	0.18061	0.0:0.7348:0.0:0.2652	.	133	Q9BYQ8	KRA49_HUMAN	R	121;133;124	ENSP00000375234:S133R	ENSP00000334461:S124R	S	+	3	2	KRTAP4-9	36515565	0.828000	0.29307	0.682000	0.30024	0.211000	0.24417	0.599000	0.24089	0.501000	0.28013	0.306000	0.20318	AGC		0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		7	169	0	0	0	1	0	7	169				
IL27	246778	broad.mit.edu	37	16	28515269	28515269	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:28515269C>T	ENST00000356897.1	-	2	156	c.134G>A	c.(133-135)aGg>aAg	p.R45K		NM_145659.3	NP_663634.2	Q8TAD2	IL17D_HUMAN	interleukin 27	0					inflammatory response (GO:0006954)	extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						TGTGAACTCCCTCCGCAGCTC	0.642																																						ENST00000356897.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						c.(133-135)aGg>aAg		interleukin 27							37.0	39.0	39.0					16																	28515269		2197	4299	6496	SO:0001583	missense	246778				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	g.chr16:28515269C>T	AY099296	CCDS10633.1	16p11	2011-07-21	2003-12-17	2003-12-19	ENSG00000197272	ENSG00000197272		"""Interleukins and interleukin receptors"""	19157	protein-coding gene	gene with protein product		608273	"""interleukin 30"""	IL30		12121660	Standard	NM_145659		Approved	IL-27, p28, IL27p28, IL-27A, IL27A, MGC71873	uc002dqc.3	Q8NEV9	OTTHUMG00000097023	ENST00000356897.1:c.134G>A	16.37:g.28515269C>T	ENSP00000349365:p.Arg45Lys						p.R45K	NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN			2	156	-			45					B1AM69	Missense_Mutation	SNP	ENST00000356897.1	37	c.134G>A	CCDS10633.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.468936	0.43839	.	.	ENSG00000197272	ENST00000356897	T	0.32023	1.47	4.37	-0.0235	0.13943	.	0.406946	0.21187	N	0.078701	T	0.22085	0.0532	L	0.50333	1.59	0.09310	N	0.999991	B	0.06786	0.001	B	0.10450	0.005	T	0.16012	-1.0417	10	0.49607	T	0.09	-1.419	3.9917	0.09539	0.0:0.514:0.1875:0.2985	.	45	Q8NEV9	IL27A_HUMAN	K	45	ENSP00000349365:R45K	ENSP00000349365:R45K	R	-	2	0	IL27	28422770	0.002000	0.14202	0.705000	0.30386	0.933000	0.57130	-0.282000	0.08445	0.278000	0.22164	0.549000	0.68633	AGG		0.642	IL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214114.1	NM_145659		85	298	0	0	0	1	0	85	298				
MKL1	57591	broad.mit.edu	37	22	40813466	40813466	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:40813466G>A	ENST00000355630.3	-	13	2686	c.2096C>T	c.(2095-2097)gCc>gTc	p.A699V	RP5-1042K10.13_ENST00000609279.1_RNA|MKL1_ENST00000396617.3_Missense_Mutation_p.A699V|MKL1_ENST00000402042.1_Missense_Mutation_p.A649V|MKL1_ENST00000407029.1_Missense_Mutation_p.A699V	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	699	Pro-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGCAGAGGGGGCAGGCGCTGG	0.662			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(2095-2097)gCc>gTc		megakaryoblastic leukemia (translocation) 1							13.0	14.0	14.0					22																	40813466		2202	4299	6501	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40813466G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.2096C>T	22.37:g.40813466G>A	ENSP00000347847:p.Ala699Val					MKL1_ENST00000407029.1_Missense_Mutation_p.A699V|MKL1_ENST00000355630.3_Missense_Mutation_p.A699V|MKL1_ENST00000402042.1_Missense_Mutation_p.A649V	p.A699V			Q969V6	MKL1_HUMAN			13	2686	-			699			Pro-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.2096C>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	4.075	0.011799	0.07912	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.44881	0.92;0.91;0.92;0.92	4.77	1.24	0.21308	.	0.930412	0.09097	N	0.849021	T	0.20700	0.0498	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.25047	-1.0143	10	0.20046	T	0.44	-13.9067	7.2519	0.26154	0.2811:0.334:0.3849:0.0	.	649;699;699	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	V	699;699;649;699	ENSP00000347847:A699V;ENSP00000379861:A699V;ENSP00000385584:A649V;ENSP00000385835:A699V	ENSP00000347847:A699V	A	-	2	0	MKL1	39143412	0.002000	0.14202	0.743000	0.31040	0.002000	0.02628	0.318000	0.19504	0.591000	0.29711	-0.165000	0.13383	GCC		0.662	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		3	45	0	0	0	1	0	3	45				
CCT6P3	643180	broad.mit.edu	37	7	64498737	64498737	+	RNA	SNP	C	C	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:64498737C>A	ENST00000426828.1	+	0	0					NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		gaggcggtggcggcggcggca	0.786																																						ENST00000426828.1																			0																																																			0							g.chr7:64498737C>A			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64498737C>A								NR_033416.1						0	0	+									RNA	SNP	ENST00000426828.1	37																																																																																						0.786	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			8	58	1	0	5.01169e-05	1	5.20236e-05	8	58				
ZNF799	90576	broad.mit.edu	37	19	12502436	12502436	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:12502436G>T	ENST00000430385.3	-	4	976	c.776C>A	c.(775-777)tCt>tAt	p.S259Y	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.S227Y	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						GAAGGCTTTAGAACACTGTTT	0.378																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(679-681)tCt>tAt		zinc finger protein 799							93.0	101.0	98.0					19																	12502436		2203	4299	6502	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12502436G>T	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.776C>A	19.37:g.12502436G>T	ENSP00000411084:p.Ser259Tyr					CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.S259Y	p.S227Y			Q96GE5	ZN799_HUMAN			4	1429	-			259						Missense_Mutation	SNP	ENST00000430385.3	37	c.680C>A	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059898	0.36373	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.15952	2.38;2.38	1.31	-2.39	0.06602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20981	0.0505	M	0.70108	2.13	0.09310	N	1	P	0.41188	0.741	P	0.47603	0.551	T	0.25398	-1.0133	9	0.87932	D	0	.	0.6406	0.00810	0.2115:0.3001:0.3005:0.188	.	259	Q96GE5	ZN799_HUMAN	Y	227;259	ENSP00000415278:S227Y;ENSP00000411084:S259Y	ENSP00000415278:S227Y	S	-	2	0	ZNF799	12363436	0.000000	0.05858	0.000000	0.03702	0.642000	0.38348	-0.219000	0.09228	-0.442000	0.07190	0.430000	0.28490	TCT		0.378	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		70	748	1	0	7.62465e-47	1	8.32176e-47	70	748				
PBDC1	51260	broad.mit.edu	37	X	75397752	75397752	+	3'UTR	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:75397752G>A	ENST00000373358.3	+	0	914				PBDC1_ENST00000373357.3_Missense_Mutation_p.R200K	NM_016500.3	NP_057584.2	Q9BVG4	PBDC1_HUMAN	polysaccharide biosynthesis domain containing 1																		AAGGTATACAGGGAACAGCAC	0.388																																						ENST00000373357.3																			0											c.(598-600)aGg>aAg		polysaccharide biosynthesis domain containing 1							100.0	96.0	97.0					X																	75397752		2203	4300	6503	SO:0001624	3_prime_UTR_variant	51260							g.chrX:75397752G>A	BC001220	CCDS14432.1, CCDS75995.1	Xq13.2	2012-11-28	2012-11-28	2012-11-28	ENSG00000102390	ENSG00000102390			28790	protein-coding gene	gene with protein product			"""chromosome X open reading frame 26"""	CXorf26		11042152	Standard	NM_016500		Approved	MGC874	uc004ecl.1	Q9BVG4	OTTHUMG00000021876	ENST00000373358.3:c.*9G>A	X.37:g.75397752G>A						PBDC1_ENST00000373358.3_3'UTR	p.R200K							5	698	+									Missense_Mutation	SNP	ENST00000373358.3	37	c.599G>A	CCDS14432.1	.	.	.	.	.	.	.	.	.	.	G	1.494	-0.553877	0.03996	.	.	ENSG00000102390	ENST00000373357	.	.	.	4.07	2.27	0.28462	.	.	.	.	.	T	0.38878	0.1057	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36915	-0.9728	5	0.87932	D	0	.	4.3396	0.11103	0.1192:0.0:0.6581:0.2226	.	.	.	.	K	200	.	ENSP00000362455:R200K	R	+	2	0	CXorf26	75314155	0.053000	0.20554	0.003000	0.11579	0.029000	0.11900	0.115000	0.15540	0.503000	0.28060	-0.229000	0.12294	AGG		0.388	PBDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057294.1	NM_016500		27	131	0	0	0	1	0	27	131				
HSPA8	3312	broad.mit.edu	37	11	122931494	122931494	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:122931494A>G	ENST00000532636.1	-	3	337	c.218T>C	c.(217-219)cTg>cCg	p.L73P	HSPA8_ENST00000534624.1_Missense_Mutation_p.L73P|HSPA8_ENST00000526110.1_Missense_Mutation_p.L73P|HSPA8_ENST00000534319.1_5'Flank|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.L73P|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.L73P|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000533540.1_Missense_Mutation_p.L73P|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	73					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCGTCCAATCAGACGTTTGGC	0.403																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(217-219)cTg>cCg		heat shock 70kDa protein 8							70.0	70.0	70.0					11																	122931494		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122931494A>G	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.218T>C	11.37:g.122931494A>G	ENSP00000437125:p.Leu73Pro					HSPA8_ENST00000227378.3_Missense_Mutation_p.L73P|HSPA8_ENST00000526110.1_Missense_Mutation_p.L73P|HSPA8_ENST00000533540.1_Missense_Mutation_p.L73P|HSPA8_ENST00000532636.1_Missense_Mutation_p.L73P|HSPA8_ENST00000453788.2_Missense_Mutation_p.L73P	p.L73P	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	3	494	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	73					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.218T>C	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321983	0.81580	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000528292;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182;ENST00000524590;ENST00000530391	T;T;T;T;T;T;T;T;T;T;T;T;T	0.05513	3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43	4.43	4.43	0.53597	.	0.000000	0.64402	D	0.000003	T	0.48960	0.1529	H	0.99979	5.18	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.75575	-0.3270	10	0.87932	D	0	-14.075	13.9969	0.64407	1.0:0.0:0.0:0.0	.	73;73;73;73	B4DTX2;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	P	73;73;73;73;73;73;13;73;73;73;73;73;73	ENSP00000437125:L73P;ENSP00000437189:L73P;ENSP00000432083:L73P;ENSP00000404372:L73P;ENSP00000227378:L73P;ENSP00000433584:L73P;ENSP00000432884:L13P;ENSP00000435154:L73P;ENSP00000431641:L73P;ENSP00000436183:L73P;ENSP00000434415:L73P;ENSP00000434565:L73P;ENSP00000434851:L73P	ENSP00000227378:L73P	L	-	2	0	HSPA8	122436704	1.000000	0.71417	0.975000	0.42487	0.970000	0.65996	9.337000	0.96545	1.752000	0.51891	0.402000	0.26972	CTG		0.403	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			85	315	0	0	0	1	0	85	315				
PTEN	5728	broad.mit.edu	37	10	89692944	89692944	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr10:89692944G>A	ENST00000371953.3	+	5	1785	c.428G>A	c.(427-429)gGc>gAc	p.G143D		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	143	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G143fs*4(2)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTACATCGGGGCAAATTTTTA	0.388		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		53	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Deletion - In frame(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G143fs*4(2)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|endometrium(2)|soft_tissue(1)|urinary_tract(1)|NS(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(427-429)gGc>gAc		phosphatase and tensin homolog							83.0	83.0	83.0					10																	89692944		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692944G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.428G>A	10.37:g.89692944G>A	ENSP00000361021:p.Gly143Asp	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.G143D	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1785	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	143			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.428G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887387	0.91814	.	.	ENSG00000171862	ENST00000371953	D	0.85088	-1.94	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88912	0.6566	M	0.69523	2.12	0.80722	D	1	P	0.51537	0.946	P	0.51079	0.658	D	0.88648	0.3180	9	.	.	.	-3.0248	18.7776	0.91918	0.0:0.0:1.0:0.0	.	143	P60484	PTEN_HUMAN	D	143	ENSP00000361021:G143D	.	G	+	2	0	PTEN	89682924	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	GGC		0.388	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		7	666	0	0	0	1	0	7	666				
SDHAP3	728609	broad.mit.edu	37	5	1593386	1593386	+	lincRNA	SNP	A	A	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:1593386A>C	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							CTGGCCATTCACGTGCCTCAG	0.597																																						ENST00000436493.2																			0																																																			0							g.chr5:1593386A>C																													5.37:g.1593386A>C														0	239	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.597	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			5	344	0	0	0	1	0	5	344				
BEX4	56271	broad.mit.edu	37	X	102471391	102471391	+	Missense_Mutation	SNP	C	C	T	rs139178618	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:102471391C>T	ENST00000372695.5	+	3	545	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	BEX4_ENST00000372691.3_Missense_Mutation_p.R104C	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	104						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						GCACTATATGCGCTTCCAAAC	0.418																																						ENST00000372695.5																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						c.(310-312)Cgc>Tgc		brain expressed, X-linked 4							198.0	170.0	179.0					X																	102471391		2203	4300	6503	SO:0001583	missense	56271					cytoplasm|nucleus		g.chrX:102471391C>T	AL035494	CCDS35355.1	Xq22.1-q22.3	2014-03-21	2008-11-04	2007-08-24	ENSG00000102409	ENSG00000102409			25475	protein-coding gene	gene with protein product		300692	"""brain expressed X-linked-like 1"", ""BEX family member 4"""	BEXL1		15958283, 16221301	Standard	NM_001080425		Approved	FLJ10097	uc004ejw.4	Q9NWD9	OTTHUMG00000022091	ENST00000372695.5:c.310C>T	X.37:g.102471391C>T	ENSP00000361780:p.Arg104Cys					BEX4_ENST00000372691.3_Missense_Mutation_p.R104C	p.R104C	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN			3	545	+			104						Missense_Mutation	SNP	ENST00000372695.5	37	c.310C>T	CCDS35355.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778944	0.49891	.	.	ENSG00000102409	ENST00000372695;ENST00000372691	T;T	0.49720	0.77;0.77	3.84	2.98	0.34508	.	0.159217	0.30277	N	0.009992	T	0.43344	0.1243	M	0.76170	2.325	0.09310	N	1	B	0.26195	0.144	B	0.21151	0.033	T	0.44907	-0.9297	10	0.59425	D	0.04	.	6.479	0.22053	0.0:0.8657:0.0:0.1343	.	104	Q9NWD9	BEX4_HUMAN	C	104	ENSP00000361780:R104C;ENSP00000361776:R104C	ENSP00000361776:R104C	R	+	1	0	BEX4	102358047	0.001000	0.12720	0.001000	0.08648	0.847000	0.48162	0.082000	0.14847	0.979000	0.38497	0.594000	0.82650	CGC		0.418	BEX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057694.1	XM_043653		5	408	0	0	0	1	0	5	408				
GAS2L2	246176	broad.mit.edu	37	17	34077157	34077157	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:34077157T>G	ENST00000254466.6	-	2	593	c.566A>C	c.(565-567)gAc>gCc	p.D189A	GAS2L2_ENST00000587565.1_Intron	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	189					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGGCGAGGGGTCGGGCGGGGG	0.741																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(565-567)gAc>gCc		growth arrest-specific 2 like 2							20.0	26.0	24.0					17																	34077157		2188	4280	6468	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34077157T>G	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.566A>C	17.37:g.34077157T>G	ENSP00000254466:p.Asp189Ala					GAS2L2_ENST00000587565.1_Intron	p.D189A	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	593	-		Ovarian(249;0.17)	189					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.566A>C	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	T	7.826	0.718860	0.15372	.	.	ENSG00000132139	ENST00000254466	T	0.18016	2.24	4.98	2.77	0.32553	.	1.437920	0.04140	N	0.319452	T	0.17152	0.0412	L	0.51422	1.61	0.26149	N	0.980163	P	0.37781	0.608	B	0.30401	0.115	T	0.28902	-1.0029	10	0.49607	T	0.09	0.0179	8.0796	0.30737	0.0:0.1677:0.0:0.8323	.	189	Q8NHY3	GA2L2_HUMAN	A	189	ENSP00000254466:D189A	ENSP00000254466:D189A	D	-	2	0	GAS2L2	31101270	0.986000	0.35501	0.134000	0.22075	0.011000	0.07611	2.112000	0.41892	0.749000	0.32854	0.402000	0.26972	GAC		0.741	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		31	375	0	0	0	1	0	31	375				
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:6536011_6536013delCTC	ENST00000400915.3	-	4	361_363	c.295_297delGAG	c.(295-297)gagdel	p.E99del	PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377748.1_In_Frame_Del_p.E120del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	99	Poly-Glu.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377748.1																			0				liver(1)	1						c.(358-360)del		pleckstrin homology domain containing, family G (with RhoGef domain) member 5																																				SO:0001651	inframe_deletion	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6536011_6536013delCTC	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.295_297delGAG	1.37:g.6536020_6536022delCTC	ENSP00000383706:p.Glu99del		OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	634	PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del	p.E120del	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	4	855_857	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	99					B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	In_Frame_Del	DEL	ENST00000400915.3	37	c.358_360delGAG	CCDS41241.1																																																																																				0.631	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		11	642						11	642	---	---	---	---
EXTL1	2134	broad.mit.edu	37	1	26349533	26349535	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:26349533_26349535delCCT	ENST00000374280.3	+	1	1263_1265	c.396_398delCCT	c.(394-399)tgcctc>tgc	p.L137del		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	137					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGCCTGCCTCCTCCTCCTC	0.606																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(394-399)tgc>tg		exostosin-like glycosyltransferase 1																																				SO:0001651	inframe_deletion	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349533_26349535delCCT	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.396_398delCCT	1.37:g.26349542_26349544delCCT	ENSP00000363398:p.Leu137del						p.CL132del	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1263_1265	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	132					Q6GSC1	In_Frame_Del	DEL	ENST00000374280.3	37	c.396_398delCCT	CCDS271.1																																																																																				0.606	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		7	369						7	369	---	---	---	---
EIF2B3	8891	broad.mit.edu	37	1	45407182	45407182	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:45407182delT	ENST00000360403.2	-	4	576	c.450delA	c.(448-450)aaafs	p.K150fs	EIF2B3_ENST00000480675.1_5'UTR|EIF2B3_ENST00000372183.3_Frame_Shift_Del_p.K150fs	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	150					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCTTACCTGCTTTTTTTTTCC	0.358																																					Colon(26;357 658 2581 11857 12657)	ENST00000360403.2																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17						c.(448-450)aafs		eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa							147.0	137.0	141.0					1																	45407182		2203	4300	6503	SO:0001589	frameshift_variant	8891				negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity	g.chr1:45407182delT	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.450delA	1.37:g.45407182delT	ENSP00000353575:p.Lys150fs					EIF2B3_ENST00000480675.1_5'UTR|EIF2B3_ENST00000372183.3_Frame_Shift_Del_p.K150fs	p.K150fs	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN			4	576	-	Acute lymphoblastic leukemia(166;0.155)		150					B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Frame_Shift_Del	DEL	ENST00000360403.2	37	c.450delA	CCDS517.1																																																																																				0.358	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365		11	654						11	654	---	---	---	---
LINC01250	101927554	broad.mit.edu	37	2	2910722	2910723	+	lincRNA	INS	-	-	T	rs373675312		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:2910722_2910723insT	ENST00000457478.1	-	0	594																											tccaccccctctccccagccca	0.708																																						ENST00000457478.1																			0																																																			0							g.chr2:2910722_2910723insT																													2.37:g.2910723_2910723dupT														0	594	-									RNA	INS	ENST00000457478.1	37																																																																																						0.708	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			20	27						20	27	---	---	---	---
LINC01105	150622	broad.mit.edu	37	2	6090578	6090587	+	RNA	DEL	ACACACACAG	ACACACACAG	-	rs4668822|rs373480627|rs369923526|rs71400860|rs10522247|rs138476886		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:6090578_6090587delACACACACAG	ENST00000431188.1	+	0	134																											acacacacacacacacacagacacacacac	0.338																																						ENST00000431188.1																			0																																																			0							g.chr2:6090578_6090587delACACACACAG																													2.37:g.6090578_6090587delACACACACAG														0	134	+									RNA	DEL	ENST00000431188.1	37																																																																																						0.338	AC073479.1-001	KNOWN	not_organism_supported|basic	lincRNA	processed_transcript	OTTHUMT00000322749.1			2	4						2	4	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37259800	37259801	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:37259800_37259801insT	ENST00000233099.5	-	22	3427_3428	c.3332_3333insA	c.(3331-3333)aatfs	p.N1111fs	HEATR5B_ENST00000354531.2_Frame_Shift_Ins_p.N1111fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1111						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.N1111K(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGTCCCCTGTATTTTTTGCCAG	0.386																																						ENST00000233099.5																			1	Substitution - Missense(1)	p.N1111K(1)	lung(1)	breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(3331-3333)aacfs		HEAT repeat containing 5B																																				SO:0001589	frameshift_variant	54497						binding	g.chr2:37259800_37259801insT	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.3333dupA	2.37:g.37259806_37259806dupT	ENSP00000233099:p.Asn1111fs					HEATR5B_ENST00000354531.2_Frame_Shift_Ins_p.N1111fs	p.N1111fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			22	3427_3428	-		all_hematologic(82;0.21)	1111					B5MDU8|Q7Z3B2|Q9NVL7	Frame_Shift_Ins	INS	ENST00000233099.5	37	c.3332_3333insA	CCDS33181.1																																																																																				0.386	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		62	515						62	515	---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39213243	39213243	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:39213243delT	ENST00000426016.1	-	24	3810	c.3724delA	c.(3724-3726)agtfs	p.S1242fs	SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs|SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1242					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CCATGGTCACTTTTTTTGCCC	0.517									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(3724-3726)gtfs		son of sevenless homolog 1 (Drosophila)							134.0	134.0	134.0					2																	39213243		2203	4300	6503	SO:0001589	frameshift_variant	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39213243delT	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3724delA	2.37:g.39213243delT	ENSP00000387784:p.Ser1242fs					SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs|SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs	p.S1242fs			Q07889	SOS1_HUMAN			24	3810	-		all_hematologic(82;0.21)	1242					A8K2G3|B4DXG2	Frame_Shift_Del	DEL	ENST00000426016.1	37	c.3724delA	CCDS1802.1																																																																																				0.517	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		8	608						8	608	---	---	---	---
UGP2	7360	broad.mit.edu	37	2	64084969	64084969	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:64084969delA	ENST00000337130.5	+	3	630	c.154delA	c.(154-156)aaafs	p.K53fs	UGP2_ENST00000467648.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000394417.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000487469.1_Intron|UGP2_ENST00000445915.2_Frame_Shift_Del_p.K62fs	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	53					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						ACAGCACACCAAAAAAGACCT	0.358																																						ENST00000337130.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						c.(154-156)aafs		UDP-glucose pyrophosphorylase 2							161.0	191.0	181.0					2																	64084969		2203	4300	6503	SO:0001589	frameshift_variant	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64084969delA		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.154delA	2.37:g.64084969delA	ENSP00000338703:p.Lys53fs					UGP2_ENST00000445915.2_Frame_Shift_Del_p.K62fs|UGP2_ENST00000394417.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000487469.1_Intron|UGP2_ENST00000467648.2_Frame_Shift_Del_p.K42fs	p.K53fs	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN			3	630	+			53					Q07131|Q0P6K2|Q86Y81|Q9BU15	Frame_Shift_Del	DEL	ENST00000337130.5	37	c.154delA	CCDS1875.1																																																																																				0.358	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		7	1782						7	1782	---	---	---	---
WBP1	23559	broad.mit.edu	37	2	74687542	74687543	+	Frame_Shift_Ins	INS	-	-	C	rs547055147	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:74687542_74687543insC	ENST00000233615.2	+	4	818_819	c.544_545insC	c.(544-546)gccfs	p.A182fs	WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.A179fs|MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000393972.3_Frame_Shift_Ins_p.A216fs	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	182							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCAT	0.604													CCCCCCc|CCCCCCC|CCCCCCCC|insertion	4	0.000798722	0.0015	0.0	5008	,	,		17122	0.001		0.0	False		,,,				2504	0.001					ENST00000393972.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(646-648)cccfs		WW domain binding protein 1																																				SO:0001589	frameshift_variant	23559						WW domain binding	g.chr2:74687542_74687543insC	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.551dupC	2.37:g.74687549_74687549dupC	ENSP00000233615:p.Ala182fs					WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.P179fs|WBP1_ENST00000233615.2_Frame_Shift_Ins_p.P182fs	p.P216fs			Q96G27	WBP1_HUMAN			5	849_850	+			182					B2RE02|O95637	Frame_Shift_Ins	INS	ENST00000233615.2	37	c.646_647insC	CCDS1943.1																																																																																				0.604	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477		7	1027						7	1027	---	---	---	---
AC027612.3	0	broad.mit.edu	37	2	91887905	91887906	+	RNA	INS	-	-	T	rs374250838|rs369805878|rs199562278	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:91887905_91887906insT	ENST00000436174.1	-	0	540																											GCTATTTTCCATTTTTTTTTTT	0.292														393	0.0784744	0.1354	0.0533	5008	,	,		61150	0.0546		0.0567	False		,,,				2504	0.0665					ENST00000436174.1																			0																																																			0							g.chr2:91887905_91887906insT																													2.37:g.91887916_91887916dupT														0	540	-									RNA	INS	ENST00000436174.1	37																																																																																						0.292	AC027612.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338339.1			7	297						7	297	---	---	---	---
LOC442028	442028	broad.mit.edu	37	2	95558033	95558034	+	RNA	INS	-	-	A	rs537165385|rs35245431	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:95558033_95558034insA	ENST00000568768.1	-	0	476																											TTCTAAGAGTCAAAAAAACTGT	0.317													AAAAAAA|AAAAAAA|AAAAAAAA|insertion	11	0.00219649	0.0083	0.0	5008	,	,		16894	0.0		0.0	False		,,,				2504	0.0					ENST00000568768.1																			0																																																			0							g.chr2:95558033_95558034insA																													2.37:g.95558040_95558040dupA														0	476	-									RNA	INS	ENST00000568768.1	37																																																																																						0.317	AC097374.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431504.1			11	9						11	9	---	---	---	---
LOC442028	442028	broad.mit.edu	37	2	95558422	95558423	+	RNA	INS	-	-	T	rs201628538		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:95558422_95558423insT	ENST00000568768.1	-	0	476																											ATCTGGACCCCGTTTGCAATCT	0.475																																						ENST00000568768.1																			0																																																			0							g.chr2:95558422_95558423insT																													2.37:g.95558422_95558423insT														0	476	-									RNA	INS	ENST00000568768.1	37																																																																																						0.475	AC097374.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431504.1			7	117						7	117	---	---	---	---
LOC102724691	102724691	broad.mit.edu	37	2	105596111	105596111	+	RNA	DEL	A	A	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:105596111delA	ENST00000456519.1	-	0	43																											agaaagaaagaaaagaaagaa	0.358																																						ENST00000456519.1																			0																																																			0							g.chr2:105596111delA																													2.37:g.105596111delA														0	43	-									RNA	DEL	ENST00000456519.1	37																																																																																						0.358	AC010884.1-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000329368.1			4	8						4	8	---	---	---	---
AC104653.1	0	broad.mit.edu	37	2	114588351	114588352	+	lincRNA	DEL	AC	AC	-	rs200031039|rs57623642		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:114588351_114588352delAC	ENST00000420579.1	-	0	1156				AC024704.2_ENST00000435407.1_lincRNA																							CGACAACAAAacacacacacac	0.5																																						ENST00000435407.1																			0																																																			0							g.chr2:114588351_114588352delAC																													2.37:g.114588361_114588362delAC														0	268	-									RNA	DEL	ENST00000420579.1	37																																																																																						0.500	AC104653.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331365.1			3	2						3	2	---	---	---	---
PLEKHA3	65977	broad.mit.edu	37	2	179343164	179343164	+	5'Flank	DEL	A	A	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:179343164delA	ENST00000234453.5	+	0	0				FKBP7_ENST00000424785.2_Frame_Shift_Del_p.F21fs|FKBP7_ENST00000434643.2_Frame_Shift_Del_p.F21fs|FKBP7_ENST00000464248.1_5'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			TCTGAGCAGTAAAAAGGCCCC	0.448																																						ENST00000424785.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(61-63)ttfs		FK506 binding protein 7							114.0	134.0	128.0					2																	179343164		2203	4300	6503	SO:0001631	upstream_gene_variant	51661				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:179343164delA	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446		2.37:g.179343164delA	Exception_encountered					FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Frame_Shift_Del_p.F21fs	p.F21fs	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		1	121	-			21					Q4ZG69|Q86TQ1|Q9NXT3	Frame_Shift_Del	DEL	ENST00000234453.5	37	c.63delT	CCDS33336.1																																																																																				0.448	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		9	1413						9	1413	---	---	---	---
LINC01237	101927289	broad.mit.edu	37	2	242823746	242823749	+	RNA	DEL	GTGT	GTGT	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:242823746_242823749delGTGT	ENST00000429947.1	+	0	0				AC131097.3_ENST00000415434.1_RNA|AC131097.3_ENST00000430555.1_RNA|AC131097.3_ENST00000457686.1_RNA																							GTGGCCCAGCgtgtgtgtgtgtgt	0.691																																						ENST00000430555.1																			0																																																			0							g.chr2:242823746_242823749delGTGT																													2.37:g.242823754_242823757delGTGT						AC131097.3_ENST00000457686.1_RNA|AC131097.3_ENST00000415434.1_RNA								0	116	+									RNA	DEL	ENST00000429947.1	37																																																																																						0.691	AC131097.3-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000322316.1			4	4						4	4	---	---	---	---
RP11-572M11.4	0	broad.mit.edu	37	3	112892065	112892066	+	RNA	INS	-	-	GGAA	rs71134882|rs372888902|rs368738028		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:112892065_112892066insGGAA	ENST00000496389.1	+	0	485				RP11-572M11.4_ENST00000463017.1_RNA																							AGGTAAGTaggggaaggaagga	0.475																																						ENST00000496389.1																			0																																																			0							g.chr3:112892065_112892066insGGAA																													3.37:g.112892070_112892073dupGGAA						RP11-572M11.4_ENST00000463017.1_RNA								0	485	+									RNA	INS	ENST00000496389.1	37																																																																																						0.475	RP11-572M11.4-003	KNOWN	basic	antisense	antisense	OTTHUMT00000354881.2			4	2						4	2	---	---	---	---
FAM86EP	348926	broad.mit.edu	37	4	3954951	3954952	+	RNA	INS	-	-	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:3954951_3954952insA	ENST00000313946.8	-	0	92				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		ACAAGAACATTAAACACGCAAT	0.495																																						ENST00000281228.8																			0																																																			0							g.chr4:3954951_3954952insA			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3954954_3954954dupA						FAM86EP_ENST00000313946.8_RNA								0	98	-									RNA	INS	ENST00000313946.8	37																																																																																						0.495	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			9	238						9	238	---	---	---	---
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2278-2280)del		clock circadian regulator																																				SO:0001651	inframe_deletion	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304530_56304532delCTG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del					CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del	p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2528_2530	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		760			Gln-rich.		A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL	ENST00000309964.4	37	c.2278_2280delCAG	CCDS3500.1																																																																																				0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		8	279						8	279	---	---	---	---
MMRN1	22915	broad.mit.edu	37	4	90844391	90844393	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:90844391_90844393delAGC	ENST00000394980.1	+	5	1242_1244	c.923_925delAGC	c.(922-927)gagcag>gag	p.Q313del	MMRN1_ENST00000394981.1_In_Frame_Del_p.Q279del|MMRN1_ENST00000264790.2_In_Frame_Del_p.Q313del|MMRN1_ENST00000508372.1_In_Frame_Del_p.Q55del			Q13201	MMRN1_HUMAN	multimerin 1	313	Poly-Gln.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GGAGTAGCTGAGCAGCAGCAGCA	0.448																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(922-927)gag>g		multimerin 1																																				SO:0001651	inframe_deletion	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90844391_90844393delAGC	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.923_925delAGC	4.37:g.90844400_90844402delAGC	ENSP00000378431:p.Gln313del					MMRN1_ENST00000508372.1_In_Frame_Del_p.EQ50del|MMRN1_ENST00000394981.1_In_Frame_Del_p.EQ274del|MMRN1_ENST00000264790.2_In_Frame_Del_p.EQ308del	p.EQ308del			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	5	1242_1244	+		Hepatocellular(203;0.114)	308					Q4W5L1|Q6P3T8|Q6ZUL9	In_Frame_Del	DEL	ENST00000394980.1	37	c.923_925delAGC	CCDS3635.1																																																																																				0.448	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		11	1518						11	1518	---	---	---	---
CTD-2374C24.1	0	broad.mit.edu	37	5	104533565	104533566	+	lincRNA	INS	-	-	TG	rs61056458|rs35670141		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:104533565_104533566insTG	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							TTACAGTAGTTtgtgtgtgtgt	0.322																																						ENST00000522464.1																			0																																																			0							g.chr5:104533565_104533566insTG																													5.37:g.104533574_104533575dupTG						RP11-6N13.1_ENST00000503650.1_lincRNA								0	68	-									RNA	INS	ENST00000522464.1	37																																																																																						0.322	CTD-2374C24.1-002	PUTATIVE	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000374820.1			3	4						3	4	---	---	---	---
RP11-536N17.1	0	broad.mit.edu	37	5	172243975	172243975	+	lincRNA	DEL	A	A	-	rs11354549|rs76038728|rs3059262		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:172243975delA	ENST00000518260.1	+	0	105																											TCAGGGaaacaaaaaaaaaaa	0.408																																						ENST00000518260.1																			0																																																			0							g.chr5:172243975delA																													5.37:g.172243975delA														0	105	+									RNA	DEL	ENST00000518260.1	37																																																																																						0.408	RP11-536N17.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372515.1			3	3						3	3	---	---	---	---
RP1-223B1.1	0	broad.mit.edu	37	6	3615264	3615267	+	lincRNA	DEL	GAAG	GAAG	-	rs372066845|rs148082776	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:3615264_3615267delGAAG	ENST00000443445.1	-	0	500																											aggaaggaaagaaggaaggaagga	0.495														302	0.0603035	0.2194	0.0159	5008	,	,		7529	0.001		0.0	False		,,,				2504	0.0					ENST00000443445.1																			0																																																			0							g.chr6:3615264_3615267delGAAG																													6.37:g.3615272_3615275delGAAG														0	500	-									RNA	DEL	ENST00000443445.1	37																																																																																						0.495	RP1-223B1.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000039687.1			4	8						4	8	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26422627	26422628	+	RNA	INS	-	-	A	rs3734537|rs34196747	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:26422627_26422628insA	ENST00000466808.2	+	0	79							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											gcaaattttccaaaaaaattaa	0.292														729	0.145567	0.1641	0.1801	5008	,	,		17074	0.0308		0.166	False		,,,				2504	0.1933					ENST00000466808.2																			0																																																			0							g.chr6:26422627_26422628insA	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422634_26422634dupA														0	79	+								A6NEF4	RNA	INS	ENST00000466808.2	37																																																																																						0.292	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		5	10						5	10	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:155743925_155743926delCA	ENST00000159060.2	-	10	1312_1313	c.1210_1211delTG	c.(1210-1212)tgcfs	p.C404fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	404					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.53																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(1210-1212)cfs		NADPH oxidase 3																																				SO:0001589	frameshift_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155743925_155743926delCA	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1210_1211delTG	6.37:g.155743933_155743934delCA	ENSP00000159060:p.Cys404fs						p.C404fs	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	10	1312_1313	-		Breast(66;0.0183)	404					Q9HBJ9	Frame_Shift_Del	DEL	ENST00000159060.2	37	c.1210_1211delTG	CCDS5250.1																																																																																				0.530	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			7	865						7	865	---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160485488	160485488	+	Frame_Shift_Del	DEL	G	G	-	rs371109078	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:160485488delG	ENST00000356956.1	+	28	4090	c.3942delG	c.(3940-3942)acgfs	p.T1314fs		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1314					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TGAACTTCACGGGGGGGGACA	0.502																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3940-3942)acfs		insulin-like growth factor 2 receptor							98.0	108.0	105.0					6																	160485488		2203	4300	6503	SO:0001589	frameshift_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160485488delG	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3942delG	6.37:g.160485488delG	ENSP00000349437:p.Thr1314fs						p.T1314fs	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	28	4090	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1314					Q7Z7G9|Q96PT5	Frame_Shift_Del	DEL	ENST00000356956.1	37	c.3942delG	CCDS5273.1																																																																																				0.502	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		10	1134						10	1134	---	---	---	---
AC073333.8	0	broad.mit.edu	37	7	16750422	16750422	+	RNA	DEL	T	T	-	rs537884968|rs35515448	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:16750422delT	ENST00000418907.1	-	0	72																											ATGAAACAAATTTTTTTTTTT	0.338													|||unknown(HR)	1069	0.213458	0.4145	0.1772	5008	,	,		14481	0.0992		0.1431	False		,,,				2504	0.1575					ENST00000418907.1																			0																																																			0							g.chr7:16750422delT																													7.37:g.16750422delT														0	72	-									RNA	DEL	ENST00000418907.1	37																																																																																						0.338	AC073333.8-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000326370.1			4	8						4	8	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114269971	114269973	+	In_Frame_Del	DEL	CAA	CAA	-	rs576887296|rs398124272	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:114269971_114269973delCAA	ENST00000393494.2	+	5	787_789	c.508_510delCAA	c.(508-510)caadel	p.Q191del	FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						acagcagcagcaacaacaacaac	0.502														34	0.00678914	0.0015	0.0072	5008	,	,		16128	0.0228		0.004	False		,,,				2504	0.0					ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)del		forkhead box P2																																				SO:0001651	inframe_deletion	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269971_114269973delCAA	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.508_510delCAA	7.37:g.114269980_114269982delCAA	ENSP00000377132:p.Gln191del					FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|AC020606.1_ENST00000580664.1_RNA	p.Q116del			O15409	FOXP2_HUMAN			11	1103_1105	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.283_285delCAA	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		10	268						10	268	---	---	---	---
WASL	8976	broad.mit.edu	37	7	123329093	123329094	+	Splice_Site	DEL	TA	TA	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:123329093_123329094delTA	ENST00000223023.4	-	10	1789		c.e10+1			NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like						actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						tctctctctctACCTGAAGAAT	0.431																																						ENST00000223023.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.e10+1		Wiskott-Aldrich syndrome-like																																				SO:0001630	splice_region_variant	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123329093_123329094delTA	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1456+1TA>-	7.37:g.123329093_123329094delTA								NM_003941.2	NP_003932.3	O00401	WASL_HUMAN			10	1789	-								A1JUI9|Q7Z746	Splice_Site	DEL	ENST00000223023.4	37		CCDS34743.1																																																																																				0.431	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941	Intron	8	1546						8	1546	---	---	---	---
SGCZ	137868	broad.mit.edu	37	8	13948053	13948056	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:13948053_13948056delCTGT	ENST00000382080.1	-	8	1550_1553	c.835_838delACAG	c.(835-840)acagtgfs	p.TV279fs	SGCZ_ENST00000421524.2_Frame_Shift_Del_p.TV232fs	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	266					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		AGTTCATACACTGTCTGTCGAGAA	0.471																																						ENST00000382080.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47						c.(835-840)tgfs		sarcoglycan, zeta																																				SO:0001589	frameshift_variant	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:13948053_13948056delCTGT	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.835_838delACAG	8.37:g.13948057_13948060delCTGT	ENSP00000371512:p.Thr279fs					SGCZ_ENST00000421524.2_Frame_Shift_Del_p.TV232fs	p.TV279fs	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	8	1550_1553	-			266					Q6REU0	Frame_Shift_Del	DEL	ENST00000382080.1	37	c.835_838delACAG	CCDS5992.2																																																																																				0.471	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		63	641						63	641	---	---	---	---
RP11-459E5.1	0	broad.mit.edu	37	8	22557108	22557109	+	RNA	INS	-	-	G	rs148552174	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:22557108_22557109insG	ENST00000523627.1	+	0	164																											aggaaaagaaagaaagaaagaa	0.401													|||unknown(STR3?)	111	0.0221645	0.0825	0.0029	5008	,	,		14802	0.0		0.0	False		,,,				2504	0.0					ENST00000523627.1																			0																																																			0							g.chr8:22557108_22557109insG																													8.37:g.22557109_22557109dupG														0	164	+									RNA	INS	ENST00000523627.1	37																																																																																						0.401	RP11-459E5.1-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000375190.1			11	6						11	6	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30703516	30703516	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:30703516delT	ENST00000256246.2	-	1	3092	c.3018delA	c.(3016-3018)aaafs	p.K1006fs	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1006					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCTATGAGCTTTTTTTAAGT	0.323																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(3016-3018)aafs		testis expressed 15							111.0	123.0	119.0					8																	30703516		2203	4299	6502	SO:0001589	frameshift_variant	56154							g.chr8:30703516delT	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.3018delA	8.37:g.30703516delT	ENSP00000256246:p.Lys1006fs						p.K1006fs	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	3092	-			1006						Frame_Shift_Del	DEL	ENST00000256246.2	37	c.3018delA	CCDS6080.1																																																																																				0.323	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			8	1398						8	1398	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103289348	103289349	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:103289348_103289349insT	ENST00000520539.1	-	45	6966_6967	c.6360_6361insA	c.(6358-6363)aaagaafs	p.E2121fs	UBR5_ENST00000521922.1_Frame_Shift_Ins_p.E2115fs|UBR5_ENST00000220959.4_Frame_Shift_Ins_p.E2121fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2121					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.E2121fs*28(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTTCCCCTTCTTTTTTTTGCC	0.381																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			2	Deletion - Frameshift(2)	p.E2121fs*28(2)	breast(1)|kidney(1)	NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(6358-6363)aaaaggfs		ubiquitin protein ligase E3 component n-recognin 5																																				SO:0001589	frameshift_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103289348_103289349insT	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6361dupA	8.37:g.103289356_103289356dupT	ENSP00000429084:p.Glu2121fs					UBR5_ENST00000220959.4_Frame_Shift_Ins_p.R2121fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.R2115fs	p.R2121fs	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		45	6966_6967	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2121					B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Ins	INS	ENST00000520539.1	37	c.6360_6361insA	CCDS34933.1																																																																																				0.381	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		8	824						8	824	---	---	---	---
FOXD4	2298	broad.mit.edu	37	9	117406	117407	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:117406_117407insG	ENST00000382500.2	-	1	1010_1011	c.713_714insC	c.(712-714)ccgfs	p.P238fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	238	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTGCGGCGGGGCAGGGGC	0.743																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(712-714)cccfs		forkhead box D4																																				SO:0001589	frameshift_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117406_117407insG	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.714dupC	9.37:g.117410_117410dupG	ENSP00000371940:p.Pro238fs						p.P238fs	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	1010_1011	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	238			Pro-rich.		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Frame_Shift_Ins	INS	ENST00000382500.2	37	c.713_714insC	CCDS34975.1																																																																																				0.743	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		9	384						9	384	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21974679	21974679	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:21974679delG	ENST00000304494.5	-	1	418	c.148delC	c.(148-150)cagfs	p.Q50fs	CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.Q50fs|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.Q50fs|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.Q50fs|CDKN2A_ENST00000361570.3_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	50			Q -> R (in CMM2). {ECO:0000269|PubMed:8595405}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(25)|p.Q50*(4)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CTACCCACCTGGATCGGCCTC	0.682		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1346	Whole gene deletion(1316)|Unknown(25)|Substitution - Nonsense(4)|Deletion - In frame(1)	p.0?(1315)|p.?(25)|p.Q50*(4)|p.0(1)|p.V28_V51del(1)	haematopoietic_and_lymphoid_tissue(278)|skin(170)|central_nervous_system(163)|lung(148)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM023895	CDKN2A	M		c.(148-150)agfs		cyclin-dependent kinase inhibitor 2A							86.0	102.0	96.0					9																	21974679		2203	4300	6503	SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974679delG	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.148delC	9.37:g.21974679delG	ENSP00000307101:p.Gln50fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.Q50fs|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.Q50fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.Q50fs	p.Q50fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	418	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	50		Q -> R (in CMM2).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.148delC	CCDS6510.1																																																																																				0.682	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		314	1020						314	1020	---	---	---	---
LOC403323	403323	broad.mit.edu	37	9	66545695	66545695	+	lincRNA	DEL	A	A	-	rs368616794|rs199855162|rs56683069		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:66545695delA	ENST00000445604.2	-	0	669																											CTGTAAGAGGAAAAAAAAACA	0.373																																						ENST00000445604.2																			0																																																			0							g.chr9:66545695delA																													9.37:g.66545695delA														0	669	-									RNA	DEL	ENST00000445604.2	37																																																																																						0.373	RP11-262H14.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037074.2			7	14						7	14	---	---	---	---
ECM2	1842	broad.mit.edu	37	9	95277146	95277148	+	In_Frame_Del	DEL	TCC	TCC	-	rs137929518	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:95277146_95277148delTCC	ENST00000344604.5	-	4	968_970	c.819_821delGGA	c.(817-822)gaggat>gat	p.E273del	ECM2_ENST00000444490.2_In_Frame_Del_p.E251del|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	273	Poly-Glu.				cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ctcctcctcatcctcctcctcct	0.606																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(817-822)gat>ga		extracellular matrix protein 2, female organ and adipocyte specific																																				SO:0001651	inframe_deletion	1842				cell-matrix adhesion		integrin binding	g.chr9:95277146_95277148delTCC	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.819_821delGGA	9.37:g.95277155_95277157delTCC	ENSP00000344758:p.Glu273del					CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del	p.ED273del	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			4	968_970	-			273			Poly-Glu.		B2R730|E2PU11|Q5T9F2|Q7Z3D0	In_Frame_Del	DEL	ENST00000344604.5	37	c.819_821delGGA	CCDS6698.1																																																																																				0.606	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		9	1000						9	1000	---	---	---	---
FAM21A	387680	broad.mit.edu	37	10	51826259	51826259	+	5'Flank	DEL	A	A	-	rs368712005		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr10:51826259delA	ENST00000282633.5	+	0	0				FAM21A_ENST00000351071.6_5'Flank|RP11-324H6.5_ENST00000456967.1_RNA|FAM21A_ENST00000314664.7_5'Flank	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A						retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						TAACAAAAGCAAAAAAAAAAA	0.333																																						ENST00000456967.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr10:51826259delA	BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"""family with sequence similarity 21, member B"""	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225		10.37:g.51826259delA	Exception_encountered							NR_038275.1						0	1278	-								A2A3S2|A2A3U6|Q6DHY0	RNA	DEL	ENST00000282633.5	37		CCDS41527.1																																																																																				0.333	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276917.2	NM_001005751		3	5						3	5	---	---	---	---
ABCC2	1244	broad.mit.edu	37	10	101559000	101559000	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr10:101559000delA	ENST00000370449.4	+	8	1017	c.904delA	c.(904-906)aaafs	p.K303fs		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	303					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GTCTGGGACCAAAAAAGATGT	0.403																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(904-906)aafs		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						195.0	213.0	207.0					10																	101559000		2203	4300	6503	SO:0001589	frameshift_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101559000delA	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.904delA	10.37:g.101559000delA	ENSP00000359478:p.Lys303fs						p.K303fs	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	8	1017	+		Colorectal(252;0.234)	303					B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Frame_Shift_Del	DEL	ENST00000370449.4	37	c.904delA	CCDS7484.1																																																																																				0.403	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		7	1738						7	1738	---	---	---	---
TSPAN4	7106	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	CTG	-	rs61867552	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:864443_864445delCTG	ENST00000397404.1	+	5	521_523	c.262_264delCTG	c.(262-264)ctgdel	p.L92del	TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.65																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(262-264)del		tetraspanin 4																																				SO:0001651	inframe_deletion	0				protein complex assembly	integral to plasma membrane		g.chr11:864443_864445delCTG	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.262_264delCTG	11.37:g.864452_864454delCTG	ENSP00000380553:p.Leu92del					TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del	p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	521_523	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	92					Q6IAP6	In_Frame_Del	DEL	ENST00000397404.1	37	c.262_264delCTG	CCDS7721.1																																																																																				0.650	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			11	818						11	818	---	---	---	---
APBB1	322	broad.mit.edu	37	11	6432090	6432092	+	In_Frame_Del	DEL	TCC	TCC	-	rs370763825|rs145320037		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:6432090_6432092delTCC	ENST00000609360.1	-	2	585_587	c.486_488delGGA	c.(484-489)gaggat>gat	p.E162del	APBB1_ENST00000311051.3_In_Frame_Del_p.E162del|APBB1_ENST00000299402.6_In_Frame_Del_p.E162del|APBB1_ENST00000389906.2_In_Frame_Del_p.E162del	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	162	Glu-rich.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.E162D(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		atcatcatcatcctcctcctcct	0.635																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			1	Substitution - Missense(1)	p.E162D(1)	prostate(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(484-489)gat>ga		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)																																				SO:0001651	inframe_deletion	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432090_6432092delTCC	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.486_488delGGA	11.37:g.6432099_6432101delTCC	ENSP00000477213:p.Glu162del					APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del	p.ED162del	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	585_587	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	162			Glu-rich.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	In_Frame_Del	DEL	ENST00000609360.1	37	c.486_488delGGA																																																																																					0.635	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		8	345						8	345	---	---	---	---
RRP8	23378	broad.mit.edu	37	11	6623336	6623338	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:6623336_6623338delTCC	ENST00000254605.6	-	2	324_326	c.207_209delGGA	c.(205-210)gaggaa>gaa	p.69_70EE>E	RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000537806.1_5'Flank|ILK_ENST00000396751.2_5'Flank|ILK_ENST00000299421.4_5'Flank|ILK_ENST00000528995.1_5'Flank|ILK_ENST00000420936.2_5'Flank|RRP8_ENST00000534343.1_Intron	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	69	Poly-Glu.				cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CTTCTTCCTTTCCTCCTCCTCCT	0.532																																						ENST00000254605.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						c.(205-210)gaa>ga		ribosomal RNA processing 8, methyltransferase, homolog (yeast)																																				SO:0001651	inframe_deletion	23378				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr11:6623336_6623338delTCC	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"""KIAA0409"""	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.207_209delGGA	11.37:g.6623345_6623347delTCC	ENSP00000254605:p.Glu70del					RRP8_ENST00000534343.1_Intron	p.EE69del	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN			2	324_326	-			69			Poly-Glu.		Q7KZ78|Q9BVM6	In_Frame_Del	DEL	ENST00000254605.6	37	c.207_209delGGA	CCDS31411.1																																																																																				0.532	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		7	525						7	525	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14252331	14252334	+	RNA	DEL	TTCA	TTCA	-	rs3078460|rs536213192|rs142059175|rs561892213	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:14252331_14252334delTTCA	ENST00000310358.7	+	0	1360							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		ccttccttccttcattttttcGTG	0.475																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein																																						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14252331_14252334delTTCA	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14252331_14252334delTTCA										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1360	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	DEL	ENST00000310358.7	37																																																																																						0.475	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		3	5						3	5	---	---	---	---
AP5B1	91056	broad.mit.edu	37	11	65546346	65546356	+	Frame_Shift_Del	DEL	GCCAGCAAAGA	GCCAGCAAAGA	-	rs370753088|rs576189594	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:65546346_65546356delGCCAGCAAAGA	ENST00000532090.2	-	2	1818_1828	c.1608_1618delTCTTTGCTGGC	c.(1606-1620)gctctttgctggcacfs	p.LCWH537fs		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	537					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						ATTTGCAGGTGCCAGCAAAGAGCTTCATCCC	0.597																																						ENST00000532090.2																			0				lung(1)	1						c.(1606-1620)gcacfs		adaptor-related protein complex 5, beta 1 subunit																																				SO:0001589	frameshift_variant	91056						protein binding	g.chr11:65546346_65546356delGCCAGCAAAGA	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.1608_1618delTCTTTGCTGGC	11.37:g.65546346_65546356delGCCAGCAAAGA	ENSP00000454303:p.Leu537fs						p.ALCWH536fs	NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN			2	1818_1828	-			479					A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Frame_Shift_Del	DEL	ENST00000532090.2	37	c.1608_1618delTCTTTGCTGGC	CCDS58146.1																																																																																				0.597	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390636.2	NM_138368		10	139						10	139	---	---	---	---
UVRAG	7405	broad.mit.edu	37	11	75694431	75694431	+	Splice_Site	DEL	A	A	-	rs369320979		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:75694431delA	ENST00000356136.3	+	8	941	c.700delA	c.(700-702)aaa>aa	p.K236fs	UVRAG_ENST00000528420.1_Splice_Site_p.K135fs|UVRAG_ENST00000532130.1_5'UTR|UVRAG_ENST00000539288.1_5'Flank|UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000533454.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	236					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						ATTTATTTAGAAAAAAAAAAG	0.303																																						ENST00000356136.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.e8-1		UV radiation resistance associated				54,85,4123		1,0,52,3,79,1996	23.0	27.0	26.0			5.6	1.0	11		25	73,129,8046		0,0,73,4,121,3926	no	codingComplex-near-splice	UVRAG	NM_003369.3		1,0,125,7,200,5922	A1A1,A1A2,A1R,A2A2,A2R,RR		2.4491,3.2614,2.7258			75694431	127,214,12169	2199	4293	6492	SO:0001630	splice_region_variant	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75694431delA	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.700-1A>-	11.37:g.75694431delA						UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000528420.1_Splice_Site_p.K135_splice|UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000532130.1_5'UTR	p.K236_splice	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN			8	941	+			236					B3KTC1|O00392	Splice_Site	DEL	ENST00000356136.3	37	c.699_splice	CCDS8241.1																																																																																				0.303	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369	Frame_Shift_Del	7	198						7	198	---	---	---	---
RP11-377D9.3	0	broad.mit.edu	37	12	13174142	13174150	+	lincRNA	DEL	AACAACAAC	AACAACAAC	-	rs113537246		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:13174142_13174150delAACAACAAC	ENST00000543321.1	+	0	1025																											ctgtctcaaaaacaacaacaacaacaaca	0.56																																						ENST00000543321.1																			0																																																			0							g.chr12:13174142_13174150delAACAACAAC																													12.37:g.13174151_13174159delAACAACAAC														0	1025	+									RNA	DEL	ENST00000543321.1	37																																																																																						0.560	RP11-377D9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000401005.1			8	45						8	45	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:46318575_46318577delGGT	ENST00000369367.3	-	12	4073_4075	c.3840_3842delACC	c.(3838-3843)ccaccc>ccc	p.1280_1281PP>P	SCAF11_ENST00000465950.1_In_Frame_Del_p.965_966PP>P|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000549162.1_In_Frame_Del_p.1088_1089PP>P|SCAF11_ENST00000419565.2_In_Frame_Del_p.1280_1281PP>P	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1280	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGGGGGAGGGGGTGGTGGTGGTG	0.483																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2893-2898)ccc>cc		SR-related CTD-associated factor 11																																				SO:0001651	inframe_deletion	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46318575_46318577delGGT	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3840_3842delACC	12.37:g.46318584_46318586delGGT	ENSP00000358374:p.Pro1285del					SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del	p.PP969del			Q99590	SCAFB_HUMAN			2	4104_4106	-			1284			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	In_Frame_Del	DEL	ENST00000369367.3	37	c.2895_2897delACC	CCDS8748.2																																																																																				0.483	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		9	724						9	724	---	---	---	---
MYO1A	4640	broad.mit.edu	37	12	57422572	57422573	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:57422572_57422573insT	ENST00000442789.2	-	29	3385_3386	c.3098_3099insA	c.(3097-3099)aagfs	p.K1033fs	TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.K1033fs|MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.K871fs	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1033	Myosin tail. {ECO:0000255}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AATGACTCCCCTTTTTTTTGTA	0.559																																						ENST00000442789.2																			1	Unknown(1)	p.?(1)	skin(1)	breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(3097-3099)aggfs		myosin IA																																				SO:0001589	frameshift_variant	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57422572_57422573insT	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.3099dupA	12.37:g.57422580_57422580dupT	ENSP00000393392:p.Lys1033fs					MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.R871fs|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.R1033fs|TAC3_ENST00000415231.1_5'UTR	p.R1033fs	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			29	3385_3386	-			1033					Q9UQD7	Frame_Shift_Ins	INS	ENST00000442789.2	37	c.3098_3099insA	CCDS8929.1																																																																																				0.559	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		11	700						11	700	---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:72057256_72057258delGCT	ENST00000378743.3	-	1	491_493	c.133_135delAGC	c.(133-135)agcdel	p.S45del	ZFC3H1_ENST00000549407.1_5'Flank|THAP2_ENST00000547843.1_5'Flank|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(133-135)del		zinc finger, C3H1-type containing				2,34,3866		0,0,2,4,26,1919						4.0	1.0			58	1,83,7932		0,0,1,9,65,3933	no	codingComplex	ZFC3H1	NM_144982.4		0,0,3,13,91,5852	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0479,0.9226,1.0069				3,117,11798				SO:0001651	inframe_deletion	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057256_72057258delGCT	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.133_135delAGC	12.37:g.72057265_72057267delGCT	ENSP00000368017:p.Ser45del		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del	p.S45del	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	491_493	-			45			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	In_Frame_Del	DEL	ENST00000378743.3	37	c.133_135delAGC	CCDS41813.1																																																																																				0.631	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		12	1521						12	1521	---	---	---	---
VPS37B	79720	broad.mit.edu	37	12	123351892	123351892	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:123351892delG	ENST00000267202.2	-	4	1010	c.629delC	c.(628-630)ccafs	p.P213fs	RP11-463O12.3_ENST00000537827.2_lincRNA	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	213	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)		p.P211fs*>76(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CGGGGGTGGTGGGGGGGGGAT	0.716																																						ENST00000267202.2																			1	Insertion - Frameshift(1)	p.P211fs*>76(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5						c.(628-630)cafs		vacuolar protein sorting 37 homolog B (S. cerevisiae)				71,200,3595		4,0,63,8,184,1674	8.0	10.0	9.0			-9.5	0.0	12		9	91,347,7060		7,0,77,16,315,3334	no	codingComplex	VPS37B	NM_024667.2		11,0,140,24,499,5008	A1A1,A1A2,A1R,A2A2,A2R,RR		5.8416,7.0098,6.239			123351892	162,547,10655	2086	4079	6165	SO:0001589	frameshift_variant	79720				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr12:123351892delG	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"""vacuolar protein sorting 37B (yeast)"""			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.629delC	12.37:g.123351892delG	ENSP00000267202:p.Pro213fs						p.P213fs	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)	4	1010	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		213			Pro-rich.			Frame_Shift_Del	DEL	ENST00000267202.2	37	c.629delC	CCDS9239.1																																																																																				0.716	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1	NM_024667		9	172						9	172	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25671804	25671806	+	In_Frame_Del	DEL	GCT	GCT	-	rs537105482|rs150143049|rs558565724	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr13:25671804_25671806delGCT	ENST00000281589.3	+	1	1505_1507	c.1468_1470delGCT	c.(1468-1470)gctdel	p.A496del		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	496					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ACGTCctgcagctgctgctgctg	0.532																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1468-1470)del		poly(A) binding protein, cytoplasmic 3																																				SO:0001651	inframe_deletion	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671804_25671806delGCT	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1468_1470delGCT	13.37:g.25671813_25671815delGCT	ENSP00000281589:p.Ala496del						p.A496del	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1505_1507	+		Lung SC(185;0.0225)|Breast(139;0.0602)	496					Q8NHV0|Q9H086	In_Frame_Del	DEL	ENST00000281589.3	37	c.1468_1470delGCT	CCDS9311.1																																																																																				0.532	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		12	406						12	406	---	---	---	---
ARHGAP5	394	broad.mit.edu	37	14	32562696	32562696	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr14:32562696delA	ENST00000345122.3	+	2	3136	c.2821delA	c.(2821-2823)aaafs	p.K942fs	ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.K942fs|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.K942fs|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.K942fs|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	942					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.N943fs*2(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TGTTCTAGAGAAAAAAAATAT	0.343																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			1	Deletion - Frameshift(1)	p.N943fs*2(1)	large_intestine(1)	NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(2821-2823)aafs		Rho GTPase activating protein 5							48.0	48.0	48.0					14																	32562696		2203	4297	6500	SO:0001589	frameshift_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32562696delA	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2821delA	14.37:g.32562696delA	ENSP00000371897:p.Lys942fs					ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.K942fs|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.K942fs|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.K942fs	p.K942fs	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	3136	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		942					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Frame_Shift_Del	DEL	ENST00000345122.3	37	c.2821delA	CCDS32062.1																																																																																				0.343	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		7	542						7	542	---	---	---	---
KTN1-AS1	100129075	broad.mit.edu	37	14	56017469	56017470	+	RNA	DEL	AC	AC	-	rs374290357		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr14:56017469_56017470delAC	ENST00000554558.1	-	0	364							Q86SY8	KTAS1_HUMAN	KTN1 antisense RNA 1																		cttgtctcaaacacacacacac	0.45																																						ENST00000554558.1																			0																																																			0							g.chr14:56017469_56017470delAC			14q22.3	2012-10-12	2012-08-15	2011-12-07	ENSG00000186615	ENSG00000186615		"""Long non-coding RNAs"""	19842	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 33"", ""KTN1 antisense RNA 1 (non-protein coding)"""	C14orf33			Standard	NR_027123		Approved		uc001xbz.2	Q86SY8	OTTHUMG00000171057		14.37:g.56017479_56017480delAC														0	364	-									RNA	DEL	ENST00000554558.1	37																																																																																						0.450	KTN1-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000411452.1	NR_027123		2	4						2	4	---	---	---	---
DDX24	57062	broad.mit.edu	37	14	94545821	94545823	+	In_Frame_Del	DEL	CCT	CCT	-	rs371331758		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr14:94545821_94545823delCCT	ENST00000330836.5	-	2	397_399	c.266_268delAGG	c.(265-270)gaggga>gga	p.E89del	DDX24_ENST00000544005.1_Intron|IFI27L1_ENST00000557066.1_5'Flank|IFI27L1_ENST00000555523.1_5'Flank|IFI27L1_ENST00000554544.1_5'Flank|DDX24_ENST00000555054.1_In_Frame_Del_p.E46del|IFI27L1_ENST00000557218.1_5'Flank|IFI27L1_ENST00000393115.3_5'Flank|IFI27L1_ENST00000553664.1_5'Flank|IFI27L1_ENST00000556381.1_5'Flank	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	89	Poly-Glu.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTAGACTTTCCCTCCTCCTCCTC	0.443																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(265-270)gga>g		DEAD (Asp-Glu-Ala-Asp) box helicase 24																																				SO:0001651	inframe_deletion	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94545821_94545823delCCT	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.266_268delAGG	14.37:g.94545830_94545832delCCT	ENSP00000328690:p.Glu89del					DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del	p.EG89del	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	2	397_399	-		all_cancers(154;0.12)	89			Poly-Glu.		E7EMJ4|Q4V9L5	In_Frame_Del	DEL	ENST00000330836.5	37	c.266_268delAGG	CCDS9918.1																																																																																				0.443	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		7	1037						7	1037	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28515875	28515876	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:28515875_28515876insTC	ENST00000261609.7	-	10	1330_1331	c.1222_1223insGA	c.(1222-1224)atgfs	p.M408fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGCGGAGGCATACAGGGCGTA	0.515																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(1222-1224)gccfs		HECT and RLD domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28515875_28515876insTC	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1222_1223insGA	15.37:g.28515875_28515876insTC	ENSP00000261609:p.Met408fs						p.A408fs	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	10	1330_1331	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	408						Frame_Shift_Ins	INS	ENST00000261609.7	37	c.1222_1223insGA	CCDS10021.1																																																																																				0.515	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		16	438						16	438	---	---	---	---
RP11-382A20.4	0	broad.mit.edu	37	15	84063040	84063041	+	RNA	INS	-	-	AGGG	rs71464540		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:84063040_84063041insAGGG	ENST00000565495.1	+	0	264																											gggagggagggaggaaggatgg	0.554																																						ENST00000565495.1																			0																																																			0							g.chr15:84063040_84063041insAGGG																													15.37:g.84063037_84063040dupAGGG														0	264	+									RNA	INS	ENST00000565495.1	37																																																																																						0.554	RP11-382A20.4-003	KNOWN	basic	antisense	antisense	OTTHUMT00000419906.1			7	20						7	20	---	---	---	---
LINC01581	101927112	broad.mit.edu	37	15	94521852	94521853	+	lincRNA	INS	-	-	CTTT	rs149780112|rs376013300|rs371331570		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:94521852_94521853insCTTT	ENST00000558874.1	-	0	1354																											tttcttccttcctttctttctt	0.327																																						ENST00000558874.1																			0																																																			0							g.chr15:94521852_94521853insCTTT																													15.37:g.94521857_94521860dupCTTT														0	1354	-									RNA	INS	ENST00000558874.1	37																																																																																						0.327	CTD-2643K12.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000419517.1			7	22						7	22	---	---	---	---
RP11-420N3.2	0	broad.mit.edu	37	16	5313079	5313080	+	RNA	INS	-	-	GGG			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:5313079_5313080insGGG	ENST00000569895.1	+	0	304				AC074051.1_ENST00000408882.1_RNA																							gtgacggtggtggtggtggtgg	0.475																																						ENST00000569895.1																			0																																																			0							g.chr16:5313079_5313080insGGG																													16.37:g.5313079_5313080insGGG														0	304	+									RNA	INS	ENST00000569895.1	37																																																																																						0.475	RP11-420N3.2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000435404.2			7	272						7	272	---	---	---	---
RP11-1166P10.6	0	broad.mit.edu	37	16	32024444	32024445	+	RNA	DEL	CA	CA	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:32024444_32024445delCA	ENST00000566806.1	-	0	621																											agtccatctccacacacacaca	0.46																																						ENST00000566806.1																			0																																																			0							g.chr16:32024444_32024445delCA																													16.37:g.32024454_32024455delCA														0	621	-									RNA	DEL	ENST00000566806.1	37																																																																																						0.460	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			3	3						3	3	---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67913786	67913788	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:67913786_67913788delAGC	ENST00000358933.5	+	16	2094_2096	c.1855_1857delAGC	c.(1855-1857)agcdel	p.S629del	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	629	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		cagcagcggtagcagcagcagca	0.616																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1855-1857)del		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913786_67913788delAGC	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1855_1857delAGC	16.37:g.67913795_67913797delAGC	ENSP00000351811:p.Ser629del						p.S629del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2094_2096	+		Ovarian(137;0.0563)	629			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1855_1857delAGC	CCDS10849.1																																																																																				0.616	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		8	461						8	461	---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(1201-1203)aafs		cadherin 3, type 1, P-cadherin (placental)							229.0	242.0	238.0					16																	68718504		2198	4300	6498	SO:0001589	frameshift_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68718504delA	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1201delA	16.37:g.68718504delA	ENSP00000264012:p.Lys401fs					CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	10	1745	+		Ovarian(137;0.0564)	401			Cadherin 3.		B2R6F4|Q05DI6	Frame_Shift_Del	DEL	ENST00000264012.4	37	c.1201delA	CCDS10868.1																																																																																				0.522	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		7	2407						7	2407	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578464	7578476	+	Frame_Shift_Del	DEL	GGGTGCCGGGCGG	GGGTGCCGGGCGG	-	rs137852790|rs137852791|rs137852793|rs563378859|rs587782705|rs137852789|rs72661116		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:7578464_7578476delGGGTGCCGGGCGG	ENST00000269305.4	-	5	643_655	c.454_466delCCGCCCGGCACCC	c.(454-468)ccgcccggcacccgcfs	p.PPGTR152fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Del_p.PPGTR152fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	152	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9450901}.|P -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P152L(66)|p.G154V(46)|p.T155N(22)|p.P152S(22)|p.T155P(17)|p.T155I(14)|p.G154G(12)|p.R156fs*14(10)|p.T155A(10)|p.P153fs*28(10)|p.G154S(9)|p.P152R(8)|p.0?(8)|p.P153S(8)|p.P152T(7)|p.P152fs*18(7)|p.P153P(7)|p.G154D(6)|p.T150fs*16(6)|p.P153L(6)|p.P152fs*29(5)|p.T155T(5)|p.P152P(5)|p.P152fs*14(5)|p.?(5)|p.G154C(4)|p.P152Q(4)|p.G61V(3)|p.R156S(3)|p.R156fs*25(3)|p.R156G(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G22V(3)|p.P153T(3)|p.G154fs*27(3)|p.T155fs*23(2)|p.R156C(2)|p.G154fs*16(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.P152A(2)|p.T155S(2)|p.P20L(2)|p.P59L(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.R156_V157del(1)|p.P152fs*27(1)|p.G154_R156delGTR(1)|p.P152fs*28(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.T155_A161delTRVRAMA(1)|p.G61C(1)|p.Q144_G154del11(1)|p.D148_T155delDSTPPPGT(1)|p.R156_A161delRVRAMA(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.T57fs*16(1)|p.T150_P153delTPPP(1)|p.T62P(1)|p.G154A(1)|p.P152del(1)|p.T62A(1)|p.S149fs*72(1)|p.T62N(1)|p.T62I(1)|p.Q144fs*16(1)|p.P153_G154insX(1)|p.P152_P153del(1)|p.R156_R158delRVR(1)|p.P20R(1)|p.T23P(1)|p.T23A(1)|p.T23N(1)|p.S149fs*17(1)|p.T23I(1)|p.P152_P153insXXX(1)|p.T155_R156delTR(1)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P59R(1)|p.G22C(1)|p.R156_A161del(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.G154fs*22(1)|p.P153F(1)|p.T18fs*16(1)|p.P153A(1)|p.P153H(1)|p.T155fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAA	0.606		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		433	Substitution - Missense(293)|Deletion - Frameshift(52)|Substitution - coding silent(29)|Insertion - Frameshift(23)|Deletion - In frame(16)|Whole gene deletion(8)|Insertion - In frame(7)|Unknown(5)	p.P152L(66)|p.G154V(46)|p.T155N(22)|p.P152S(22)|p.T155P(17)|p.T155I(14)|p.G154G(12)|p.R156fs*14(10)|p.T155A(10)|p.P153fs*28(10)|p.G154S(9)|p.P152R(8)|p.0?(8)|p.P153S(8)|p.P152T(7)|p.P152fs*18(7)|p.P153P(7)|p.G154D(6)|p.T150fs*16(6)|p.P153L(6)|p.P152fs*29(5)|p.T155T(5)|p.P152P(5)|p.P152fs*14(5)|p.?(5)|p.G154C(4)|p.P152Q(4)|p.G61V(3)|p.R156S(3)|p.R156fs*25(3)|p.R156G(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G22V(3)|p.P153T(3)|p.G154fs*27(3)|p.T155fs*23(2)|p.R156C(2)|p.G154fs*16(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.P152A(2)|p.T155S(2)|p.P20L(2)|p.P59L(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.R156_V157del(1)|p.P152fs*27(1)|p.G154_R156delGTR(1)|p.P152fs*28(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.T155_A161delTRVRAMA(1)|p.G61C(1)|p.Q144_G154del11(1)|p.D148_T155delDSTPPPGT(1)|p.R156_A161delRVRAMA(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.T57fs*16(1)|p.T150_P153delTPPP(1)|p.T62P(1)|p.G154A(1)|p.P152del(1)|p.T62A(1)|p.S149fs*72(1)|p.T62N(1)|p.T62I(1)|p.Q144fs*16(1)|p.P153_G154insX(1)|p.P152_P153del(1)|p.R156_R158delRVR(1)|p.P20R(1)|p.T23P(1)|p.T23A(1)|p.T23N(1)|p.S149fs*17(1)|p.T23I(1)|p.P152_P153insXXX(1)|p.T155_R156delTR(1)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P59R(1)|p.G22C(1)|p.R156_A161del(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.G154fs*22(1)|p.P153F(1)|p.T18fs*16(1)|p.P153A(1)|p.P153H(1)|p.T155fs*15(1)	lung(79)|large_intestine(55)|oesophagus(38)|upper_aerodigestive_tract(36)|ovary(30)|central_nervous_system(27)|breast(25)|skin(23)|stomach(23)|urinary_tract(23)|haematopoietic_and_lymphoid_tissue(23)|prostate(12)|liver(12)|bone(7)|pancreas(5)|soft_tissue(3)|adrenal_gland(3)|vulva(2)|thyroid(2)|endometrium(1)|cervix(1)|eye(1)|genital_tract(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CD090894|CI920955|CM941327|CM942117|CM951223	TP53	D|I|M	rs137852789	c.(454-468)gcfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578464_7578476delGGGTGCCGGGCGG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.454_466delCCGCCCGGCACCC	17.37:g.7578464_7578476delGGGTGCCGGGCGG	ENSP00000269305:p.Pro152fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.PPGTR152fs	p.PPGTR152fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	586_598	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	152		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.454_466delCCGCCCGGCACCC	CCDS11118.1																																																																																				0.606	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		50	351						50	351	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7707727	7707728	+	In_Frame_Ins	INS	-	-	GAG			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:7707727_7707728insGAG	ENST00000572933.1	+	59	10586_10587	c.9126_9127insGAG	c.(9127-9129)gag>GAGgag	p.3043_3043E>EE	DNAH2_ENST00000389173.2_In_Frame_Ins_p.3043_3043E>EE			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3043	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGAAGCAGTGTGAGGAGTACCT	0.579																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(9124-9129)tgagga>tgGAGagga		dynein, axonemal, heavy chain 2																																				SO:0001652	inframe_insertion	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7707727_7707728insGAG	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9130_9132dupGAG	17.37:g.7707731_7707733dupGAG	ENSP00000458355:p.Glu3044dup					DNAH2_ENST00000389173.2_In_Frame_Ins_p.3042_3042*>WR	p.3042_3042*>WR			Q9P225	DYH2_HUMAN			59	10586_10587	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3042			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	In_Frame_Ins	INS	ENST00000572933.1	37	c.9126_9127insGAG	CCDS32551.1																																																																																				0.579	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		59	239						59	239	---	---	---	---
RP11-178C3.1	0	broad.mit.edu	37	17	58050857	58050857	+	IGR	DEL	G	G	-	rs375748922		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:58050857delG	ENST00000591035.1	+	0	481				RP11-178C3.2_ENST00000586209.1_lincRNA																							TTTTTTTTTTGGCAGTTTTTA	0.423																																						ENST00000586209.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:58050857delG																													17.37:g.58050857delG														0	158	+									RNA	DEL	ENST00000591035.1	37																																																																																						0.423	RP11-178C3.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000449157.1			7	97						7	97	---	---	---	---
CBX8	57332	broad.mit.edu	37	17	77769890	77769890	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:77769890delT	ENST00000269385.4	-	4	329	c.212delA	c.(211-213)aagfs	p.K71fs	CBX8_ENST00000485449.1_5'UTR	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	71					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGGTCCACGCTTTTTGGGGCC	0.512																																						ENST00000269385.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14						c.(211-213)agfs		chromobox homolog 8							188.0	191.0	190.0					17																	77769890		2203	4300	6503	SO:0001589	frameshift_variant	57332				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	g.chr17:77769890delT	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.212delA	17.37:g.77769890delT	ENSP00000269385:p.Lys71fs					CBX8_ENST00000485449.1_5'UTR	p.K71fs	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		4	329	-			71					Q96H39|Q9NR07	Frame_Shift_Del	DEL	ENST00000269385.4	37	c.212delA	CCDS11765.1																																																																																				0.512	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649		7	1661						7	1661	---	---	---	---
LOC643542	643542	broad.mit.edu	37	18	65330493	65330496	+	lincRNA	DEL	TCTT	TCTT	-	rs549229136|rs535655547|rs568224947	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr18:65330493_65330496delTCTT	ENST00000583687.1	+	0	204					NR_033921.1																						ccttccttcctctttctttctcct	0.48																																						ENST00000583687.1																			0																																																			0							g.chr18:65330493_65330496delTCTT																													18.37:g.65330497_65330500delTCTT								NR_033921.1						0	204	+									RNA	DEL	ENST00000583687.1	37																																																																																						0.480	RP11-638L3.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000442415.1			8	4						8	4	---	---	---	---
ZSWIM4	65249	broad.mit.edu	37	19	13941586	13941587	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:13941586_13941587insC	ENST00000254323.2	+	13	2881_2882	c.2692_2693insC	c.(2692-2694)gcafs	p.A898fs	ZSWIM4_ENST00000440752.2_Frame_Shift_Ins_p.A732fs	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	898							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCCCTTAGGGGCACGCCGGGCC	0.693																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2692-2694)acgfs		zinc finger, SWIM-type containing 4																																				SO:0001589	frameshift_variant	65249						zinc ion binding	g.chr19:13941586_13941587insC	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2693dupC	19.37:g.13941587_13941587dupC	ENSP00000254323:p.Ala898fs					ZSWIM4_ENST00000440752.2_Frame_Shift_Ins_p.T732fs	p.T898fs	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	2881_2882	+			898						Frame_Shift_Ins	INS	ENST00000254323.2	37	c.2692_2693insC	CCDS32924.1																																																																																				0.693	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		13	615						13	615	---	---	---	---
LSM14A	26065	broad.mit.edu	37	19	34710340	34710340	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:34710340delC	ENST00000433627.5	+	7	901	c.826delC	c.(826-828)cggfs	p.R276fs	LSM14A_ENST00000544216.3_Frame_Shift_Del_p.R276fs|LSM14A_ENST00000540746.2_Frame_Shift_Del_p.R235fs	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	276					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TGGGGGTCATCGGGGTGGCAG	0.438																																						ENST00000544216.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(826-828)ggfs		LSM14A, SCD6 homolog A (S. cerevisiae)							75.0	85.0	82.0					19																	34710340		2203	4300	6503	SO:0001589	frameshift_variant	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34710340delC	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.826delC	19.37:g.34710340delC	ENSP00000413964:p.Arg276fs					LSM14A_ENST00000540746.2_Frame_Shift_Del_p.R235fs|LSM14A_ENST00000433627.5_Frame_Shift_Del_p.R276fs	p.R276fs	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN			7	903	+	Esophageal squamous(110;0.162)		276					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Frame_Shift_Del	DEL	ENST00000433627.5	37	c.826delC	CCDS46040.1																																																																																				0.438	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		7	1118						7	1118	---	---	---	---
PROSER3	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-	rs370252048		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2.0	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			10	1778						10	1778	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-	rs151129136		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:38882864_38882866delCCT	ENST00000338502.4	+	3	462_464	c.359_361delCCT	c.(358-363)ccctcc>ccc	p.S128del	SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000586301.1_In_Frame_Del_p.S128del|SPRED3_ENST00000587013.1_In_Frame_Del_p.S172del	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	128	Ser-rich.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645																																						ENST00000587013.1																			0				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9						c.(490-495)ccc>c		sprouty-related, EVH1 domain containing 3			,	401,4,3395		26,0,349,0,4,1521					,	3.3	0.9		dbSNP_134	44	1035,11,6892		107,0,821,1,9,3031	no	codingComplex,codingComplex	SPRED3	NM_001042522.1,NM_001039616.1	,	133,0,1170,1,13,4552	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1771,10.6579,12.3616	,	,		1436,15,10287				SO:0001651	inframe_deletion	399473				multicellular organismal development			g.chr19:38882864_38882866delCCT		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.359_361delCCT	19.37:g.38882873_38882875delCCT	ENSP00000345405:p.Ser128del					SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del	p.PS164del			Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	569_571	+	all_cancers(60;3.4e-06)		120					Q2MJR1	In_Frame_Del	DEL	ENST00000338502.4	37	c.491_493delCCT	CCDS42560.1																																																																																				0.645	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		16	186						16	186	---	---	---	---
SNAP25-AS1	100131208	broad.mit.edu	37	20	10009879	10009880	+	RNA	INS	-	-	GG	rs566979083|rs61333141|rs112979623	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr20:10009879_10009880insGG	ENST00000603542.1	-	0	747				SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000438646.1_RNA|SNAP25-AS1_ENST00000603245.1_RNA	NR_040710.1				SNAP25 antisense RNA 1																		agagagagagagagagaAgaag	0.441																																						ENST00000603542.1																			0																																																			0							g.chr20:10009879_10009880insGG	AK124961, BF244758, DA318406		20p12.2	2012-10-12	2012-08-15		ENSG00000227906	ENSG00000227906		"""Long non-coding RNAs"""	44312	non-coding RNA	RNA, long non-coding			"""SNAP25 antisense RNA 1 (non-protein coding)"""				Standard	NR_040710		Approved		uc002wnn.2		OTTHUMG00000031867		20.37:g.10009879_10009880insGG						SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000438646.1_RNA		NR_040710.1						0	747	-									RNA	INS	ENST00000603542.1	37																																																																																						0.441	SNAP25-AS1-006	KNOWN	basic	antisense	antisense	OTTHUMT00000468270.1	NR_040710		10	1						10	1	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29628310	29628312	+	In_Frame_Del	DEL	AGG	AGG	-	rs111939959		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr20:29628310_29628312delAGG	ENST00000278882.3	+	6	692_694	c.312_314delAGG	c.(310-315)gcagga>gca	p.G105del	FRG1B_ENST00000358464.4_In_Frame_Del_p.G105del|FRG1B_ENST00000439954.2_In_Frame_Del_p.G110del			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	105										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTAAAACAGCAGGAGAAGAAGAA	0.355																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(310-315)gca>gc																																						SO:0001651	inframe_deletion	0							g.chr20:29628310_29628312delAGG			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.312_314delAGG	20.37:g.29628310_29628312delAGG	ENSP00000278882:p.Gly105del					FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del|FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del	p.AG104del							6	692_694	+								C4AME5	In_Frame_Del	DEL	ENST00000278882.3	37	c.312_314delAGG																																																																																					0.355	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		12	410						12	410	---	---	---	---
MIR646HG	284757	broad.mit.edu	37	20	58889825	58889826	+	lincRNA	INS	-	-	CCAT			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr20:58889825_58889826insCCAT	ENST00000432910.1	+	0	332					NR_046099.1																						catccatcctcccatcctccca	0.569																																						ENST00000432910.1																			0																																																			0							g.chr20:58889825_58889826insCCAT																													20.37:g.58889826_58889829dupCCAT								NR_046099.1						0	332	+									RNA	INS	ENST00000432910.1	37																																																																																						0.569	RP5-1043L13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000079947.1			9	80						9	80	---	---	---	---
