#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
DTX2	113878	broad.mit.edu	37	7	76112193	76112193	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:76112193C>T	ENST00000324432.5	+	5	1147	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	DTX2_ENST00000430490.2_Missense_Mutation_p.R213C|DTX2_ENST00000307569.8_Missense_Mutation_p.R213C|DTX2_ENST00000413936.2_Missense_Mutation_p.R213C|DTX2_ENST00000446600.1_Missense_Mutation_p.R122C|DTX2_ENST00000446820.2_Missense_Mutation_p.R213C	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	213					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CGTGTCAGGCCGCTACCGCCA	0.662																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(637-639)Cgc>Tgc		deltex homolog 2 (Drosophila)							68.0	74.0	72.0					7																	76112193		2203	4300	6503	SO:0001583	missense	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112193C>T		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.637C>T	7.37:g.76112193C>T	ENSP00000322885:p.Arg213Cys					DTX2_ENST00000446820.2_Missense_Mutation_p.R213C|DTX2_ENST00000413936.2_Missense_Mutation_p.R213C|DTX2_ENST00000307569.8_Missense_Mutation_p.R213C|DTX2_ENST00000446600.1_Missense_Mutation_p.R122C|DTX2_ENST00000430490.2_Missense_Mutation_p.R213C	p.R213C	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	1147	+			213					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	c.637C>T	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	28.4	4.918915	0.92249	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;T;T;T;T;T	0.14022	2.58;2.54;2.59;2.58;2.58;2.54	5.18	5.18	0.71444	.	0.116998	0.64402	D	0.000014	T	0.37625	0.1010	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;P	0.87578	0.899;0.998;0.891	T	0.09185	-1.0686	10	0.59425	D	0.04	-21.9242	17.6737	0.88224	0.0:1.0:0.0:0.0	.	122;213;213	F5GX89;Q86UW9-2;Q86UW9	.;.;DTX2_HUMAN	C	213;213;122;122;213;213;213	ENSP00000322885:R213C;ENSP00000305242:R213C;ENSP00000397648:R122C;ENSP00000390218:R213C;ENSP00000411986:R213C;ENSP00000392545:R213C	ENSP00000305242:R213C	R	+	1	0	AC005522.1	75950129	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.638000	0.61353	2.434000	0.82447	0.561000	0.74099	CGC		0.662	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			30	642	0	0	0	1	0	30	642				
BIRC6	57448	broad.mit.edu	37	2	32774524	32774524	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:32774524T>C	ENST00000421745.2	+	65	13254	c.13120T>C	c.(13120-13122)Tca>Cca	p.S4374P		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4374					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCCAGCCATGTCATCTTATCT	0.393																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(13120-13122)Tca>Cca		baculoviral IAP repeat containing 6							124.0	118.0	120.0					2																	32774524		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32774524T>C	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13120T>C	2.37:g.32774524T>C	ENSP00000393596:p.Ser4374Pro						p.S4374P	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			65	13254	+	Acute lymphoblastic leukemia(172;0.155)		4374					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.13120T>C	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	T	20.7	4.026649	0.75390	.	.	ENSG00000115760	ENST00000421745	T	0.76316	-1.01	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.82360	0.5020	M	0.71036	2.16	0.80722	D	1	P	0.47409	0.895	P	0.49528	0.614	D	0.85059	0.0933	10	0.87932	D	0	.	15.4948	0.75641	0.0:0.0:0.0:1.0	.	4374	Q9NR09	BIRC6_HUMAN	P	4374	ENSP00000393596:S4374P	ENSP00000393596:S4374P	S	+	1	0	BIRC6	32628028	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	6.186000	0.72026	2.066000	0.61787	0.528000	0.53228	TCA		0.393	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		38	314	0	0	0	1	0	38	314				
LRIG1	26018	broad.mit.edu	37	3	66434562	66434562	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:66434562C>T	ENST00000273261.3	-	14	2448	c.1924G>A	c.(1924-1926)Gct>Act	p.A642T	LRIG1_ENST00000383703.3_Missense_Mutation_p.A666T|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	642	Ig-like C2-type 2.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCACGGGCAGCGGGGAAATCC	0.562																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1996-1998)Gct>Act		leucine-rich repeats and immunoglobulin-like domains 1							136.0	124.0	128.0					3																	66434562		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66434562C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1924G>A	3.37:g.66434562C>T	ENSP00000273261:p.Ala642Thr					LRIG1_ENST00000273261.3_Missense_Mutation_p.A642T|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron	p.A666T			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	15	2599	-		Lung NSC(201;0.0101)	642			Ig-like C2-type 2.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.1996G>A	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385298	0.82792	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.66815	-0.23;-0.13	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79034	0.4378	L	0.43646	1.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.78450	-0.2199	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	666;642;642	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	T	642;666;545	ENSP00000273261:A642T;ENSP00000373208:A666T	ENSP00000273261:A642T	A	-	1	0	LRIG1	66517252	1.000000	0.71417	0.095000	0.20976	0.015000	0.08874	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCT		0.562	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		21	427	0	0	0	1	0	21	427				
ZNF254	9534	broad.mit.edu	37	19	24310294	24310294	+	Missense_Mutation	SNP	T	T	G	rs554981870		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:24310294T>G	ENST00000357002.4	+	4	1607	c.1492T>G	c.(1492-1494)Tct>Gct	p.S498A	ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	498					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATGTGGCAAATCTTTTAGCCA	0.408																																						ENST00000357002.4																			0											c.(1492-1494)Tct>Gct		zinc finger protein 254							60.0	62.0	61.0					19																	24310294		2201	4297	6498	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310294T>G	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1492T>G	19.37:g.24310294T>G	ENSP00000349494:p.Ser498Ala					ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	p.S498A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1607	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	498					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1492T>G	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.794782	0.00004	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.35605	1.3;1.3	1.07	-0.329	0.12686	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12689	0.0308	N	0.04686	-0.185	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32322	-0.9911	9	0.02654	T	1	.	5.3479	0.16020	0.0:0.0:0.4143:0.5857	.	498	O75437	ZN254_HUMAN	A	413;498	ENSP00000445527:S413A;ENSP00000349494:S498A	ENSP00000445527:S413A	S	+	1	0	ZNF254	24102134	0.000000	0.05858	0.038000	0.18304	0.305000	0.27757	-1.126000	0.03254	-0.309000	0.08779	-0.762000	0.03455	TCT		0.408	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		8	470	0	0	0	1	0	8	470				
AHNAK2	113146	broad.mit.edu	37	14	105410162	105410162	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:105410162C>T	ENST00000333244.5	-	7	11745	c.11626G>A	c.(11626-11628)Gtg>Atg	p.V3876M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3876						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCTCGGGCACGTGGCCCTCC	0.592																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(11626-11628)Gtg>Atg		AHNAK nucleoprotein 2							132.0	140.0	137.0					14																	105410162		1938	4139	6077	SO:0001583	missense	113146					nucleus		g.chr14:105410162C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11626G>A	14.37:g.105410162C>T	ENSP00000353114:p.Val3876Met					AHNAK2_ENST00000557457.1_Intron	p.V3876M	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	11745	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3876					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.11626G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	11.79	1.742666	0.30865	.	.	ENSG00000185567	ENST00000333244	T	0.01059	5.39	3.98	-7.96	0.01144	.	.	.	.	.	T	0.01940	0.0061	L	0.39147	1.195	0.09310	N	1	D	0.76494	0.999	D	0.69654	0.965	T	0.05194	-1.0900	9	0.41790	T	0.15	.	1.2378	0.01957	0.1889:0.1829:0.3464:0.2818	.	3876	Q8IVF2	AHNK2_HUMAN	M	3876	ENSP00000353114:V3876M	ENSP00000353114:V3876M	V	-	1	0	AHNAK2	104481207	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.244000	0.02902	-2.031000	0.00928	-1.174000	0.01732	GTG		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	913	0	0	0	1	0	7	913				
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A	rs587780070		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr17:7578395G>A	ENST00000269305.4	-	5	724	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000420246.2_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)	CAGCGCTCATGGTGGGGGCAG	0.642		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"""		197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(1)|prostate(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	CM067054	TP53	M		c.(535-537)Cat>Tat	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578395		2203	4300	6503	SO:0001583	missense	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.chr17:7578395G>A	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.535C>T	17.37:g.7578395G>A	ENSP00000269305:p.His179Tyr	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_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179Y	p.H179Y	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	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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	Missense_Mutation	SNP	ENST00000269305.4	37	c.535C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137178	0.94517	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99914	0.9959	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.992;1.0;0.989;1.0;0.999;1.0;0.997	D;D;D;D;D;D;D	0.97110	0.953;0.997;0.941;1.0;0.993;0.995;0.958	D	0.96190	0.9137	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179Y;ENSP00000352610:H179Y;ENSP00000269305:H179Y;ENSP00000398846:H179Y;ENSP00000391127:H179Y;ENSP00000391478:H179Y;ENSP00000425104:H47Y;ENSP00000423862:H86Y	ENSP00000269305:H179Y	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	213	0	0	0	1	0	20	213				
CYP2A6	1548	broad.mit.edu	37	19	41351999	41351999	+	Missense_Mutation	SNP	C	C	G	rs58261757		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:41351999C>G	ENST00000301141.5	-	6	855	c.835G>C	c.(835-837)Gag>Cag	p.E279Q	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	279					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GGGTTCTTCTCCTCCTGCAGG	0.557																																						ENST00000301141.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37						c.(835-837)Gag>Cag		cytochrome P450, family 2, subfamily A, polypeptide 6	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)						70.0	59.0	62.0					19																	41351999		2203	4300	6503	SO:0001583	missense	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41351999C>G	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.835G>C	19.37:g.41351999C>G	ENSP00000301141:p.Glu279Gln					CTC-490E21.12_ENST00000601627.1_Intron	p.E279Q	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		6	855	-			279					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	c.835G>C	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	8.649	0.897840	0.17686	.	.	ENSG00000255974	ENST00000301141	T	0.01359	4.98	1.99	-2.41	0.06562	.	0.182114	0.45867	N	0.000324	T	0.00906	0.0030	N	0.17278	0.47	0.25078	N	0.990946	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.44267	-0.9339	10	0.66056	D	0.02	.	4.8188	0.13379	0.0:0.1219:0.3378:0.5403	rs58261757	279;279	Q13120;P11509	.;CP2A6_HUMAN	Q	279	ENSP00000301141:E279Q	ENSP00000301141:E279Q	E	-	1	0	CYP2A6	46043839	0.065000	0.20965	0.730000	0.30809	0.726000	0.41606	0.137000	0.15995	-0.649000	0.05430	-0.552000	0.04208	GAG		0.557	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		42	144	0	0	0	1	0	42	144				
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	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		10	79	0	0	0	1	0	10	79				
KRT78	196374	broad.mit.edu	37	12	53242653	53242653	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:53242653C>T	ENST00000304620.4	-	1	125	c.62G>A	c.(61-63)cGc>cAc	p.R21H	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	21	Gly-rich.|Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GCCCCTTGAGCGAGCAGAACA	0.647																																						ENST00000304620.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(61-63)cGc>cAc		keratin 78							17.0	20.0	19.0					12																	53242653		2203	4299	6502	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53242653C>T	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.62G>A	12.37:g.53242653C>T	ENSP00000306261:p.Arg21His						p.R21H	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN			1	125	-			21			Gly-rich.|Head.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.62G>A	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799620	0.31869	.	.	ENSG00000170423	ENST00000304620	T	0.75154	-0.91	5.14	-1.84	0.07809	.	.	.	.	.	T	0.64103	0.2568	M	0.69358	2.11	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.53669	-0.8406	9	0.46703	T	0.11	.	1.0871	0.01655	0.1385:0.3492:0.2054:0.3069	.	21	Q8N1N4	K2C78_HUMAN	H	21	ENSP00000306261:R21H	ENSP00000306261:R21H	R	-	2	0	KRT78	51528920	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.799000	0.04560	-0.602000	0.05775	0.485000	0.47835	CGC		0.647	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		13	103	0	0	0	1	0	13	103				
FRY	10129	broad.mit.edu	37	13	32850630	32850630	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:32850630C>T	ENST00000380250.3	+	57	8812	c.8316C>T	c.(8314-8316)ctC>ctT	p.L2772L	FRY_ENST00000542859.1_Silent_p.L142L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2772						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGGACAAGCTCAAGTTCAGTG	0.393																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(8314-8316)ctC>ctT		furry homolog (Drosophila)							179.0	159.0	165.0					13																	32850630		1881	4114	5995	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32850630C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.8316C>T	13.37:g.32850630C>T						FRY_ENST00000542859.1_Silent_p.L142L	p.L2772L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	57	8812	+		Lung SC(185;0.0271)	2772					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.8316C>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	9.396	1.076814	0.20227	.	.	ENSG00000073910	ENST00000380235	.	.	.	5.6	3.79	0.43588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	10.135	0.42701	0.2105:0.4488:0.3407:0.0	.	.	.	.	X	400	.	ENSP00000369567:Q400X	Q	+	1	0	FRY	31748630	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.111000	0.31159	1.343000	0.45638	0.555000	0.69702	CAA		0.393	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		39	306	0	0	0	1	0	39	306				
RP1L1	94137	broad.mit.edu	37	8	10465022	10465022	+	Missense_Mutation	SNP	T	T	C	rs200407750		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:10465022T>C	ENST00000382483.3	-	4	6809	c.6586A>G	c.(6586-6588)Ata>Gta	p.I2196V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2276	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGGCCTCTATACCTTCTGAC	0.612																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(6586-6588)Ata>Gta		retinitis pigmentosa 1-like 1							158.0	172.0	168.0					8																	10465022		1877	4104	5981	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465022T>C	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6586A>G	8.37:g.10465022T>C	ENSP00000371923:p.Ile2196Val						p.I2196V	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6809	-			2196					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6586A>G	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	T	3.257	-0.152028	0.06585	.	.	ENSG00000183638	ENST00000382483	T	0.07444	3.19	1.74	-3.47	0.04753	.	.	.	.	.	T	0.03827	0.0108	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43798	-0.9369	9	0.28530	T	0.3	.	8.8709	0.35316	0.0:0.4591:0.0:0.5409	.	2196	A6NKC6	.	V	2196	ENSP00000371923:I2196V	ENSP00000371923:I2196V	I	-	1	0	RP1L1	10502432	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.368000	0.07543	-0.995000	0.03459	-0.375000	0.07067	ATA		0.612	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			7	976	0	0	0	1	0	7	976				
EIF3A	8661	broad.mit.edu	37	10	120801997	120801997	+	Missense_Mutation	SNP	G	G	A	rs372236521	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:120801997G>A	ENST00000369144.3	-	19	3162	c.3035C>T	c.(3034-3036)gCg>gTg	p.A1012V	EIF3A_ENST00000541549.1_Missense_Mutation_p.A978V	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GTCATCATCCGCATGACGCCA	0.572													.|||	2	0.000399361	0.0015	0.0	5008	,	,		17321	0.0		0.0	False		,,,				2504	0.0					ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(3034-3036)gCg>gTg		eukaryotic translation initiation factor 3, subunit A		G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	297.0	222.0	247.0		3035	0.5	0.0	10		247	0,8600		0,0,4300	no	missense	EIF3A	NM_003750.2	64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	1012/1383	120801997	2,13004	2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120801997G>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3035C>T	10.37:g.120801997G>A	ENSP00000358140:p.Ala1012Val					EIF3A_ENST00000541549.1_Missense_Mutation_p.A978V|EIF3A_ENST00000478852.1_Intron	p.A1012V	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3162	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1012			25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.3035C>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	0.916	-0.717526	0.03182	4.54E-4	0.0	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.24151	1.87;1.87	5.91	0.478	0.16789	.	1.821580	0.04002	N	0.296629	T	0.23133	0.0559	L	0.48642	1.525	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.10450	0.005;0.0	T	0.21484	-1.0244	10	0.30078	T	0.28	0.1809	5.8168	0.18497	0.2967:0.3625:0.3408:0.0	.	978;1012	F5H335;Q14152	.;EIF3A_HUMAN	V	1012;978	ENSP00000358140:A1012V;ENSP00000438178:A978V	ENSP00000358140:A1012V	A	-	2	0	EIF3A	120791987	0.000000	0.05858	0.001000	0.08648	0.323000	0.28346	0.258000	0.18387	-0.167000	0.10871	-0.137000	0.14449	GCG		0.572	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		8	727	0	0	0	1	0	8	727				
CCDC105	126402	broad.mit.edu	37	19	15121740	15121740	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:15121740C>T	ENST00000292574.3	+	1	185	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L	SLC1A6_ENST00000430939.2_5'Flank	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	35						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CGCGCACATTCTGACCGATCG	0.706																																						ENST00000292574.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(103-105)Ctg>Ttg		coiled-coil domain containing 105							14.0	14.0	14.0					19																	15121740		2170	4269	6439	SO:0001819	synonymous_variant	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15121740C>T	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.103C>T	19.37:g.15121740C>T							p.L35L	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN			1	185	+			35					Q8N7T5|Q8NDL5	Silent	SNP	ENST00000292574.3	37	c.103C>T	CCDS12322.1																																																																																				0.706	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		3	38	0	0	0	1	0	3	38				
ZNF606	80095	broad.mit.edu	37	19	58491598	58491598	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:58491598A>C	ENST00000341164.4	-	7	1070	c.450T>G	c.(448-450)atT>atG	p.I150M	ZNF606_ENST00000536132.1_Missense_Mutation_p.I60M	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CTTCCTCAAAAATGCTCTGTG	0.383																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(448-450)atT>atG		zinc finger protein 606							123.0	111.0	115.0					19																	58491598		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58491598A>C	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.450T>G	19.37:g.58491598A>C	ENSP00000343617:p.Ile150Met					ZNF606_ENST00000536132.1_Missense_Mutation_p.I60M	p.I150M	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	1070	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	150					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.450T>G	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.357244	0.24598	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.32023	1.47;2.78;1.47	4.88	2.73	0.32206	.	0.165679	0.28577	N	0.014847	T	0.19886	0.0478	L	0.38175	1.15	0.19775	N	0.999955	P	0.36438	0.553	B	0.30029	0.11	T	0.09707	-1.0662	10	0.52906	T	0.07	.	8.1914	0.31370	0.4706:0.0:0.0:0.5294	.	150	Q8WXB4	ZN606_HUMAN	M	150;60;150	ENSP00000343617:I150M;ENSP00000445624:I60M;ENSP00000446972:I150M	ENSP00000343617:I150M	I	-	3	3	ZNF606	63183410	.	.	0.991000	0.47740	0.994000	0.84299	.	.	0.301000	0.22738	0.533000	0.62120	ATT		0.383	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		46	453	0	0	0	1	0	46	453				
EVC	2121	broad.mit.edu	37	4	5755572	5755572	+	Missense_Mutation	SNP	C	C	T	rs146028983		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr4:5755572C>T	ENST00000264956.6	+	10	1560	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	EVC_ENST00000509451.1_Missense_Mutation_p.T459M|EVC_ENST00000382674.2_Missense_Mutation_p.T459M	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	459					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GTGGAGGGAACGGCAAAACTC	0.567																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1375-1377)aCg>aTg		Ellis van Creveld syndrome		C	MET/THR	0,4406		0,0,2203	100.0	94.0	96.0		1376	-4.5	0.0	4	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense	EVC	NM_153717.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	459/993	5755572	1,13005	2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5755572C>T	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1376C>T	4.37:g.5755572C>T	ENSP00000264956:p.Thr459Met					EVC_ENST00000264956.6_Missense_Mutation_p.T459M|EVC_ENST00000509451.1_Missense_Mutation_p.T459M	p.T459M			P57679	EVC_HUMAN			10	1560	+		Myeloproliferative disorder(84;0.117)	459						Missense_Mutation	SNP	ENST00000264956.6	37	c.1376C>T	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367170	0.41902	0.0	1.16E-4	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.50813	0.73;0.73;0.79	5.04	-4.46	0.03536	.	1.022650	0.07791	N	0.955013	T	0.24967	0.0606	N	0.12182	0.205	0.09310	N	0.999999	B	0.18310	0.027	B	0.11329	0.006	T	0.19418	-1.0306	10	0.36615	T	0.2	.	7.4723	0.27355	0.1314:0.1965:0.0:0.6721	.	459	P57679	EVC_HUMAN	M	459	ENSP00000264956:T459M;ENSP00000372120:T459M;ENSP00000426774:T459M	ENSP00000264956:T459M	T	+	2	0	EVC	5806473	0.000000	0.05858	0.000000	0.03702	0.620000	0.37586	-2.519000	0.00952	-0.827000	0.04278	0.561000	0.74099	ACG		0.567	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			52	265	0	0	0	1	0	52	265				
FADS3	3995	broad.mit.edu	37	11	61645989	61645989	+	Missense_Mutation	SNP	C	C	T	rs144099007		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:61645989C>T	ENST00000278829.2	-	5	894	c.742G>A	c.(742-744)Gtc>Atc	p.V248I	FADS3_ENST00000527697.1_Missense_Mutation_p.V124I|FADS3_ENST00000525588.1_Missense_Mutation_p.V220I|FADS3_ENST00000540820.1_Missense_Mutation_p.V248I	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	248					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCCACCTCGACGGATGACTCC	0.647																																						ENST00000540820.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(742-744)Gtc>Atc		fatty acid desaturase 3		C	ILE/VAL	0,4404		0,0,2202	94.0	91.0	92.0		742	0.5	0.0	11	dbSNP_134	92	1,8597		0,1,4298	no	missense	FADS3	NM_021727.3	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	248/446	61645989	1,13001	2202	4299	6501	SO:0001583	missense	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61645989C>T		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.742G>A	11.37:g.61645989C>T	ENSP00000278829:p.Val248Ile					FADS3_ENST00000525588.1_Missense_Mutation_p.V220I|FADS3_ENST00000527697.1_Missense_Mutation_p.V124I|FADS3_ENST00000278829.2_Missense_Mutation_p.V248I	p.V248I			Q9Y5Q0	FADS3_HUMAN			5	814	-			248					O60426	Missense_Mutation	SNP	ENST00000278829.2	37	c.742G>A	CCDS8013.1	.	.	.	.	.	.	.	.	.	.	.	12.22	1.872167	0.33069	0.0	1.16E-4	ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223	T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.51	0.501	0.16925	Fatty acid desaturase, type 1 (1);	.	.	.	.	T	0.52322	0.1727	L	0.47190	1.495	0.21579	N	0.99964	B;B	0.16166	0.004;0.016	B;B	0.23275	0.027;0.045	T	0.42865	-0.9426	9	0.36615	T	0.2	-10.6178	8.9265	0.35643	0.0:0.684:0.0:0.316	.	124;248	E9PKP8;Q9Y5Q0	.;FADS3_HUMAN	I	124;248;248;220;124;124	ENSP00000431533:V124I;ENSP00000278829:V248I;ENSP00000439308:V248I;ENSP00000432206:V220I;ENSP00000436890:V124I;ENSP00000434551:V124I	ENSP00000278829:V248I	V	-	1	0	FADS3	61402565	0.001000	0.12720	0.000000	0.03702	0.112000	0.19704	0.149000	0.16243	-0.099000	0.12263	-1.036000	0.02392	GTC		0.647	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			61	380	0	0	0	1	0	61	380				
CBLB	868	broad.mit.edu	37	3	105420979	105420979	+	Missense_Mutation	SNP	G	G	A	rs372086643		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:105420979G>A	ENST00000264122.4	-	12	2239	c.1918C>T	c.(1918-1920)Cgg>Tgg	p.R640W	CBLB_ENST00000394027.3_Missense_Mutation_p.R662W|CBLB_ENST00000403724.1_Missense_Mutation_p.R640W|CBLB_ENST00000405772.1_Missense_Mutation_p.R640W	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	640	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTGTGTTTCCGCATAAGCACT	0.473			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(1918-1920)Cgg>Tgg		Cbl proto-oncogene B, E3 ubiquitin protein ligase		G	TRP/ARG	0,4406		0,0,2203	135.0	137.0	136.0		1918	-2.1	0.3	3		136	1,8599	1.2+/-3.3	0,1,4299	no	missense	CBLB	NM_170662.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	640/983	105420979	1,13005	2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105420979G>A	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1918C>T	3.37:g.105420979G>A	ENSP00000264122:p.Arg640Trp					CBLB_ENST00000403724.1_Missense_Mutation_p.R640W|CBLB_ENST00000405772.1_Missense_Mutation_p.R640W|CBLB_ENST00000394027.3_Missense_Mutation_p.R662W	p.R640W	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			12	2239	-			640			Pro-rich.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.1918C>T	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828909	0.50845	0.0	1.16E-4	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	T;D;D;D;D	0.84660	-1.29;-1.85;-1.85;-1.88;-1.88	5.73	-2.08	0.07254	.	0.419665	0.25076	N	0.033327	D	0.85296	0.5664	L	0.59436	1.845	0.47862	D	0.999533	P;D;D	0.60160	0.946;0.987;0.978	B;P;P	0.49887	0.421;0.625;0.619	D	0.86495	0.1800	10	0.87932	D	0	-1.9622	17.5349	0.87827	0.0:0.0:0.2863:0.7137	.	662;640;640	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	W	23;640;662;640;640	ENSP00000377598:R23W;ENSP00000264122:R640W;ENSP00000377595:R662W;ENSP00000384816:R640W;ENSP00000384938:R640W	ENSP00000264122:R640W	R	-	1	2	CBLB	106903669	0.389000	0.25205	0.341000	0.25589	0.775000	0.43874	-0.031000	0.12287	-0.213000	0.10094	-0.196000	0.12772	CGG		0.473	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		6	501	0	0	0	1	0	6	501				
TRIOBP	11078	broad.mit.edu	37	22	38119801	38119801	+	Missense_Mutation	SNP	A	A	G	rs71317064		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr22:38119801A>G	ENST00000406386.3	+	7	1493	c.1238A>G	c.(1237-1239)aAa>aGa	p.K413R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	413					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.K413R(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GACAATCCCAAAGCCTCCAGA	0.582																																						ENST00000406386.3																			2	Substitution - Missense(2)	p.K413R(2)	NS(1)|lung(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1237-1239)aAa>aGa		TRIO and F-actin binding protein							119.0	123.0	122.0					22																	38119801		1926	4146	6072	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119801A>G	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1238A>G	22.37:g.38119801A>G	ENSP00000384312:p.Lys413Arg					RP1-37E16.12_ENST00000455236.1_RNA	p.K413R	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1493	+	Melanoma(58;0.0574)		413					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.1238A>G	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	A	2.948	-0.217370	0.06101	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.16073	2.37	2.48	-4.11	0.03928	.	.	.	.	.	T	0.05135	0.0137	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34477	-0.9827	9	0.44086	T	0.13	.	4.7887	0.13238	0.3678:0.1561:0.4761:0.0	.	413	Q9H2D6	TARA_HUMAN	R	413	ENSP00000384312:K413R	ENSP00000384312:K413R	K	+	2	0	TRIOBP	36449747	0.000000	0.05858	0.000000	0.03702	0.175000	0.22909	-0.094000	0.11094	-1.251000	0.02494	-1.450000	0.01041	AAA		0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			5	399	0	0	0	1	0	5	399				
EID2B	126272	broad.mit.edu	37	19	40023035	40023035	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:40023035G>A	ENST00000326282.4	-	1	459	c.408C>T	c.(406-408)ccC>ccT	p.P136P	CTB-60E11.9_ENST00000594676.1_RNA|EID2B_ENST00000601837.1_Intron	NM_152361.1	NP_689574.1			EP300 interacting inhibitor of differentiation 2B											endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCATCTGCGGGGGATCCGCGT	0.597																																						ENST00000326282.4																			0				endometrium(1)|lung(1)|urinary_tract(1)	3						c.(406-408)ccC>ccT		EP300 interacting inhibitor of differentiation 2B							55.0	49.0	51.0					19																	40023035		2203	4300	6503	SO:0001819	synonymous_variant	126272				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:40023035G>A	AK096263	CCDS12539.1	19q13.2	2008-02-05				ENSG00000176401			26796	protein-coding gene	gene with protein product						15970276	Standard	NM_152361		Approved	EID-3, FLJ38944	uc002olz.1	Q96D98		ENST00000326282.4:c.408C>T	19.37:g.40023035G>A						EID2B_ENST00000601837.1_Intron	p.P136P	NM_152361.1	NP_689574.1	Q96D98	EID2B_HUMAN	Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	459	-	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		136						Silent	SNP	ENST00000326282.4	37	c.408C>T	CCDS12539.1																																																																																				0.597	EID2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464961.1	NM_152361		64	621	0	0	0	1	0	64	621				
SPEF2	79925	broad.mit.edu	37	5	35771762	35771762	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:35771762C>A	ENST00000356031.3	+	27	4007	c.3853C>A	c.(3853-3855)Cca>Aca	p.P1285T	SPEF2_ENST00000440995.2_Missense_Mutation_p.P1280T|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1285					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAAAACCAGCCAGCAGACCC	0.383																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(3838-3840)Cca>Aca		sperm flagellar 2							38.0	39.0	38.0					5																	35771762		1801	4074	5875	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35771762C>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3853C>A	5.37:g.35771762C>A	ENSP00000348314:p.Pro1285Thr					SPEF2_ENST00000356031.3_Missense_Mutation_p.P1285T|CTD-2113L7.1_ENST00000510433.1_RNA	p.P1280T			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		27	3838	+	all_lung(31;7.56e-05)		1285					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.3838C>A	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	9.684	1.150203	0.21371	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.05925	3.4;3.37	5.68	0.75	0.18387	.	0.878841	0.10350	N	0.685256	T	0.06781	0.0173	L	0.50333	1.59	0.09310	N	1	B;B	0.16396	0.017;0.005	B;B	0.12156	0.007;0.002	T	0.38802	-0.9644	10	0.33141	T	0.24	.	6.8626	0.24076	0.2918:0.5705:0.0:0.1377	.	1280;1285	Q9C093-2;Q9C093	.;SPEF2_HUMAN	T	1285;1280	ENSP00000348314:P1285T;ENSP00000412125:P1280T	ENSP00000348314:P1285T	P	+	1	0	SPEF2	35807519	0.000000	0.05858	0.025000	0.17156	0.998000	0.95712	0.441000	0.21611	-0.073000	0.12842	0.591000	0.81541	CCA		0.383	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		20	134	1	0	2.37509e-13	1	2.46586e-13	20	134				
ZNF438	220929	broad.mit.edu	37	10	31137813	31137813	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:31137813G>A	ENST00000361310.3	-	6	1850	c.1521C>T	c.(1519-1521)caC>caT	p.H507H	ZNF438_ENST00000331737.6_Silent_p.H497H|ZNF438_ENST00000538351.2_Silent_p.H458H|ZNF438_ENST00000452305.1_Silent_p.H497H|ZNF438_ENST00000375311.1_Silent_p.H71H|ZNF438_ENST00000436087.2_Silent_p.H507H|ZNF438_ENST00000413025.1_Silent_p.H507H|ZNF438_ENST00000442986.1_Silent_p.H507H|ZNF438_ENST00000444692.2_Silent_p.H497H			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	507					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CGTGACATCTGTGCCAAGGCT	0.483																																						ENST00000538351.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1372-1374)caC>caT		zinc finger protein 438							183.0	183.0	183.0					10																	31137813		2203	4300	6503	SO:0001819	synonymous_variant	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31137813G>A	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1521C>T	10.37:g.31137813G>A						ZNF438_ENST00000361310.3_Silent_p.H507H|ZNF438_ENST00000436087.2_Silent_p.H507H|ZNF438_ENST00000442986.1_Silent_p.H507H|ZNF438_ENST00000452305.1_Silent_p.H497H|ZNF438_ENST00000413025.1_Silent_p.H507H|ZNF438_ENST00000444692.2_Silent_p.H497H|ZNF438_ENST00000375311.1_Silent_p.H71H|ZNF438_ENST00000331737.6_Silent_p.H497H	p.H458H	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN			7	2128	-		Prostate(175;0.0587)	507					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Silent	SNP	ENST00000361310.3	37	c.1374C>T	CCDS7168.1																																																																																				0.483	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		9	786	0	0	0	1	0	9	786				
KLRC3	3823	broad.mit.edu	37	12	10568367	10568367	+	Missense_Mutation	SNP	C	C	T	rs370768044		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:10568367C>T	ENST00000396439.2	-	6	658	c.614G>A	c.(613-615)cGt>cAt	p.R205H	KLRC3_ENST00000381903.2_Missense_Mutation_p.R205H|NKG2-E_ENST00000539033.1_Missense_Mutation_p.R205H|KLRC3_ENST00000381904.2_Missense_Mutation_p.R205H	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3	205	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TGCACAGTTACGTTCAGCATG	0.368																																						ENST00000396439.2																			0				large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(613-615)cGt>cAt		killer cell lectin-like receptor subfamily C, member 3		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	121.0	101.0	108.0		614,614	-5.0	0.0	12		108	0,8600		0,0,4300	no	missense,missense	KLRC3	NM_002261.2,NM_007333.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	205/241,205/258	10568367	1,13005	2203	4300	6503	SO:0001583	missense	3823							g.chr12:10568367C>T	L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"""Killer cell lectin-like receptors"""	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.614G>A	12.37:g.10568367C>T	ENSP00000379716:p.Arg205His					NKG2-E_ENST00000539033.1_Missense_Mutation_p.R205H|KLRC3_ENST00000381904.2_Missense_Mutation_p.R205H|KLRC3_ENST00000381903.2_Missense_Mutation_p.R205H	p.R205H	NM_002261.2	NP_002252.2					6	658	-								Q8WXA4|Q96RL0|Q9UP04	Missense_Mutation	SNP	ENST00000396439.2	37	c.614G>A	CCDS41755.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.260349	0.00262	2.27E-4	0.0	ENSG00000255641;ENSG00000205810;ENSG00000205810;ENSG00000205810	ENST00000539033;ENST00000396439;ENST00000381904;ENST00000381903	T;T;T;T	0.06449	3.3;3.3;3.3;3.3	2.48	-4.97	0.03029	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	4.596900	0.00447	N	0.000091	T	0.02494	0.0076	N	0.02876	-0.465	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.40059	-0.9583	10	0.08381	T	0.77	.	6.9114	0.24336	0.1555:0.6313:0.0:0.2131	.	205;205;205	Q07444-2;F5H6K3;Q07444	.;.;NKG2E_HUMAN	H	205	ENSP00000437563:R205H;ENSP00000379716:R205H;ENSP00000371329:R205H;ENSP00000371328:R205H	ENSP00000371328:R205H	R	-	2	0	KLRC3;RP11-277P12.6	10459634	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.576000	0.00910	-2.066000	0.00886	-1.486000	0.00981	CGT		0.368	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261		29	210	0	0	0	1	0	29	210				
GLO1	2739	broad.mit.edu	37	6	38650584	38650584	+	Splice_Site	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:38650584C>T	ENST00000373365.4	-	4	462	c.376G>A	c.(376-378)Ggt>Agt	p.G126S	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	126					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	GCAAACTTACCGAATCCTCGA	0.338																																						ENST00000373365.4																			0				lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6						c.e4+1		glyoxalase I	Glutathione(DB00143)						131.0	111.0	118.0					6																	38650584		2203	4300	6503	SO:0001630	splice_region_variant	2739				anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding	g.chr6:38650584C>T	L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"""glyoxalase domain containing 1"""	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.376+1G>A	6.37:g.38650584C>T						GLO1_ENST00000470973.1_5'UTR	p.G126_splice	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN			4	462	-			126					B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Splice_Site	SNP	ENST00000373365.4	37	c.376_splice	CCDS4837.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606204	0.87157	.	.	ENSG00000124767	ENST00000373365	T	0.69806	-0.43	5.71	5.71	0.89125	Glyoxalase/fosfomycin resistance/dioxygenase (1);Glyoxalase I, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.85754	0.5770	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88482	0.3069	9	.	.	.	-26.2595	19.4781	0.94996	0.0:1.0:0.0:0.0	.	126	Q04760	LGUL_HUMAN	S	126	ENSP00000362463:G126S	.	G	-	1	0	GLO1	38758562	1.000000	0.71417	1.000000	0.80357	0.320000	0.28249	6.947000	0.75959	2.709000	0.92574	0.655000	0.94253	GGT		0.338	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2	NM_006708	Missense_Mutation	8	247	0	0	0	1	0	8	247				
TEX101	83639	broad.mit.edu	37	19	43922079	43922079	+	Silent	SNP	G	G	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:43922079G>T	ENST00000598265.1	+	5	607	c.441G>T	c.(439-441)ggG>ggT	p.G147G	TEX101_ENST00000602198.1_Silent_p.G165G|TEX101_ENST00000253435.7_Silent_p.G165G|TEX101_ENST00000601707.1_3'UTR	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	147	UPAR/Ly6.					acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G165G(1)		large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TGGCTTTGGGGACCTGTTTCA	0.493																																						ENST00000602198.1																			1	Substitution - coding silent(1)	p.G165G(1)	lung(1)	large_intestine(1)|lung(12)|ovary(1)|skin(1)	15						c.(493-495)ggG>ggT		testis expressed 101							327.0	268.0	288.0					19																	43922079		2203	4300	6503	SO:0001819	synonymous_variant	83639					anchored to membrane|plasma membrane		g.chr19:43922079G>T	AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"""cancer/testis antigen 131"", ""spermatogenesis associated 44"""	612665	"""testis expressed sequence 101"""			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.441G>T	19.37:g.43922079G>T						TEX101_ENST00000253435.7_Silent_p.G165G|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000598265.1_Silent_p.G147G	p.G165G	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN			7	937	+		Prostate(69;0.0199)	147					Q7L5R2|Q9BPY7	Silent	SNP	ENST00000598265.1	37	c.495G>T	CCDS59393.1																																																																																				0.493	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	NM_031451		7	722	1	0	0.335167	1	0.335167	7	722				
ZSCAN32	54925	broad.mit.edu	37	16	3434741	3434741	+	Missense_Mutation	SNP	G	G	A	rs375317994		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:3434741G>A	ENST00000396852.4	-	6	1259	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	ZSCAN32_ENST00000422427.2_Missense_Mutation_p.R106C|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.R29C|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.R318C|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.R318C|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.R106C|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.R29C	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	318					regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)										CTCACTTTGCGGTAACTCAAC	0.542																																						ENST00000396852.4																			0											c.(952-954)Cgc>Tgc		zinc finger and SCAN domain containing 32		G	CYS/ARG	0,4394		0,0,2197	161.0	166.0	164.0		316	-6.5	0.0	16		164	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF434	NM_017810.2	180	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	106/486	3434741	1,12993	2197	4300	6497	SO:0001583	missense	54925							g.chr16:3434741G>A	AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.952C>T	16.37:g.3434741G>A	ENSP00000380061:p.Arg318Cys					ZSCAN32_ENST00000422427.2_Missense_Mutation_p.R106C|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.R29C|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.R318C|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.R106C|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.R318C|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.R29C|LA16c-306E5.2_ENST00000575785.1_RNA	p.R318C							6	1259	-								B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37	c.952C>T		.	.	.	.	.	.	.	.	.	.	G	13.66	2.303535	0.40795	0.0	1.16E-4	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568;ENST00000422427	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	3.24	-6.48	0.01896	.	1.571550	0.05281	N	0.519475	T	0.70334	0.3212	M	0.93507	3.425	0.09310	N	1	D;B;B	0.89917	1.0;0.004;0.002	D;B;B	0.70016	0.967;0.002;0.002	T	0.70124	-0.4958	10	0.87932	D	0	.	6.9851	0.24723	0.5756:0.1299:0.2946:0.0	.	106;106;318	B4DR24;Q9NX65;Q6WMU8	.;ZN434_HUMAN;.	C	106;318;318;29;106	ENSP00000302502:R106C;ENSP00000380061:R318C;ENSP00000380057:R318C;ENSP00000391787:R29C;ENSP00000407312:R106C	ENSP00000302502:R106C	R	-	1	0	ZNF434	3374742	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-2.558000	0.00923	-1.622000	0.01560	-1.613000	0.00800	CGC		0.542	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		6	866	0	0	0	1	0	6	866				
VPS36	51028	broad.mit.edu	37	13	53013235	53013235	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:53013235C>G	ENST00000378060.4	-	3	261	c.234G>C	c.(232-234)aaG>aaC	p.K78N	VPS36_ENST00000480923.1_5'UTR	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	78	GLUE N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00828}.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		AGACTTACCTCTTCCCAATTC	0.408																																						ENST00000378060.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17						c.(232-234)aaG>aaC		vacuolar protein sorting 36 homolog (S. cerevisiae)							100.0	89.0	93.0					13																	53013235		2203	4300	6503	SO:0001583	missense	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:53013235C>G	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.234G>C	13.37:g.53013235C>G	ENSP00000367299:p.Lys78Asn					VPS36_ENST00000480923.1_5'UTR	p.K78N	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	3	261	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	78			GLUE N-terminal.		A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Missense_Mutation	SNP	ENST00000378060.4	37	c.234G>C	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	15.65	2.895224	0.52121	.	.	ENSG00000136100	ENST00000378060	.	.	.	5.14	3.1	0.35709	.	0.000000	0.85682	D	0.000000	T	0.57198	0.2037	M	0.69823	2.125	0.80722	D	1	P	0.36392	0.551	B	0.42462	0.388	T	0.57590	-0.7785	9	0.49607	T	0.09	-0.4756	6.5062	0.22196	0.0:0.5215:0.0:0.4784	.	78	Q86VN1	VPS36_HUMAN	N	78	.	ENSP00000367299:K78N	K	-	3	2	VPS36	51911236	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	0.937000	0.28951	1.124000	0.41980	0.655000	0.94253	AAG		0.408	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			33	214	0	0	0	1	0	33	214				
CCT6P3	643180	broad.mit.edu	37	7	64528850	64528850	+	RNA	SNP	T	T	G	rs2949472	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:64528850T>G	ENST00000426828.1	+	0	638				SNORA15_ENST00000384334.1_RNA|SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		GAATTCTGGCTTTTTTTACAA	0.284													t|||	73	0.0145767	0.034	0.0029	5008	,	,		16287	0.0169		0.004	False		,,,				2504	0.0051					ENST00000426828.1																			0																																																			0							g.chr7:64528850T>G			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528850T>G								NR_033416.1						0	638	+									RNA	SNP	ENST00000426828.1	37																																																																																						0.284	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			6	84	0	0	0	1	0	6	84				
ODF2	4957	broad.mit.edu	37	9	131246280	131246280	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:131246280G>A	ENST00000434106.3	+	11	1414	c.1051G>A	c.(1051-1053)Gca>Aca	p.A351T	ODF2_ENST00000372791.3_Missense_Mutation_p.A332T|ODF2_ENST00000604420.1_Missense_Mutation_p.A351T|ODF2_ENST00000444119.2_Missense_Mutation_p.A327T|ODF2_ENST00000546203.1_Missense_Mutation_p.A332T|ODF2_ENST00000372814.3_Missense_Mutation_p.A395T|ODF2_ENST00000372807.5_Missense_Mutation_p.A346T|ODF2_ENST00000393533.2_Missense_Mutation_p.A351T|ODF2_ENST00000351030.3_Missense_Mutation_p.A346T|ODF2_ENST00000448249.3_Missense_Mutation_p.A270T|ODF2_ENST00000393527.3_Missense_Mutation_p.A327T	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	351					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.A327T(1)|p.A351T(1)|p.A395T(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GCATTTGCAGGCACAGCTTCG	0.532																																						ENST00000303890.5																			3	Substitution - Missense(3)	p.A327T(1)|p.A351T(1)|p.A395T(1)	endometrium(3)	autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.(979-981)Gca>Aca		outer dense fiber of sperm tails 2							112.0	103.0	106.0					9																	131246280		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131246280G>A	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1051G>A	9.37:g.131246280G>A	ENSP00000403453:p.Ala351Thr					ODF2_ENST00000372796.4_Missense_Mutation_p.A351T|ODF2_ENST00000351030.3_Missense_Mutation_p.A346T|ODF2_ENST00000372807.5_Missense_Mutation_p.A346T|ODF2_ENST00000393533.2_Missense_Mutation_p.A351T|ODF2_ENST00000372791.3_Missense_Mutation_p.A332T|ODF2_ENST00000444119.2_Missense_Mutation_p.A327T|ODF2_ENST00000448249.3_Missense_Mutation_p.A270T|ODF2_ENST00000434106.2_Missense_Mutation_p.A351T|ODF2_ENST00000546203.1_Missense_Mutation_p.A332T|ODF2_ENST00000372814.3_Missense_Mutation_p.A395T	p.A327T	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			13	1564	+			351					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.979G>A	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263551	0.39995	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.91;1.0;1.0;1.0	5.8	4.72	0.59763	.	0.339216	0.32287	N	0.006313	T	0.24236	0.0587	N	0.12182	0.205	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.11235	0.001;0.001;0.002;0.001;0.004;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B;B;B;B	0.09377	0.001;0.004;0.003;0.003;0.004;0.004;0.004;0.002;0.004;0.004	T	0.06917	-1.0800	10	0.12430	T	0.62	-13.1102	14.4896	0.67642	0.084:0.0:0.916:0.0	.	332;346;270;285;351;395;346;332;351;327	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.	T	351;395;346;351;327;270;332;332	ENSP00000377166:A351T;ENSP00000361901:A395T;ENSP00000342581:A346T;ENSP00000361882:A351T;ENSP00000307781:A327T;ENSP00000396687:A270T;ENSP00000437579:A332T;ENSP00000361877:A332T	ENSP00000307781:A327T	A	+	1	0	ODF2	130286101	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.174000	0.58256	2.749000	0.94314	0.655000	0.94253	GCA		0.532	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			5	365	0	0	0	1	0	5	365				
ARHGEF11	9826	broad.mit.edu	37	1	156939813	156939813	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:156939813T>C	ENST00000361409.2	-	8	1347	c.605A>G	c.(604-606)gAc>gGc	p.D202G	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.D242G	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	202					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGGCTGGTGTCACCATATAG	0.507																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(724-726)gAc>gGc		Rho guanine nucleotide exchange factor (GEF) 11							135.0	132.0	133.0					1																	156939813		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156939813T>C	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.605A>G	1.37:g.156939813T>C	ENSP00000354644:p.Asp202Gly					ARHGEF11_ENST00000361409.2_Missense_Mutation_p.D202G	p.D242G	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			9	1764	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		202					D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.725A>G	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	T	9.766	1.171349	0.21621	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.67698	-0.28;-0.25	5.4	4.22	0.49857	.	0.094778	0.45867	D	0.000338	T	0.33702	0.0872	N	0.24115	0.695	0.29101	N	0.881483	B;B	0.28055	0.062;0.199	B;B	0.30572	0.039;0.117	T	0.13150	-1.0520	10	0.38643	T	0.18	-18.8939	9.4168	0.38525	0.0:0.0:0.1782:0.8218	.	202;242	O15085;O15085-2	ARHGB_HUMAN;.	G	242;202	ENSP00000357177:D242G;ENSP00000354644:D202G	ENSP00000354644:D202G	D	-	2	0	ARHGEF11	155206437	0.077000	0.21312	0.732000	0.30844	0.156000	0.22039	1.293000	0.33353	2.277000	0.76020	0.528000	0.53228	GAC		0.507	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		35	350	0	0	0	1	0	35	350				
UBA2	10054	broad.mit.edu	37	19	34922781	34922781	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:34922781G>A	ENST00000246548.4	+	3	308	c.238G>A	c.(238-240)Gta>Ata	p.V80I	UBA2_ENST00000439527.2_5'UTR	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	80					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CAAGGAAAGTGTACTGCAGTT	0.368																																						ENST00000246548.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(238-240)Gta>Ata		ubiquitin-like modifier activating enzyme 2							203.0	196.0	199.0					19																	34922781		2203	4300	6503	SO:0001583	missense	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34922781G>A	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.238G>A	19.37:g.34922781G>A	ENSP00000246548:p.Val80Ile					UBA2_ENST00000439527.2_5'UTR	p.V80I	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		3	308	+	Esophageal squamous(110;0.162)		80					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	37	c.238G>A	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205694	0.58234	.	.	ENSG00000126261	ENST00000246548	T	0.26957	1.7	5.37	5.37	0.77165	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.115591	0.64402	D	0.000017	T	0.26629	0.0651	L	0.39566	1.225	0.80722	D	1	B	0.28128	0.201	B	0.31390	0.129	T	0.02909	-1.1095	10	0.38643	T	0.18	-18.4752	17.8794	0.88835	0.0:0.0:1.0:0.0	.	80	Q9UBT2	SAE2_HUMAN	I	80	ENSP00000246548:V80I	ENSP00000246548:V80I	V	+	1	0	UBA2	39614621	1.000000	0.71417	0.999000	0.59377	0.865000	0.49528	9.154000	0.94694	2.497000	0.84241	0.563000	0.77884	GTA		0.368	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		77	452	0	0	0	1	0	77	452				
OPA1	4976	broad.mit.edu	37	3	193374974	193374974	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:193374974G>C	ENST00000392438.3	+	21	2353	c.2119G>C	c.(2119-2121)Gaa>Caa	p.E707Q	OPA1_ENST00000361715.2_Missense_Mutation_p.E726Q|OPA1_ENST00000361510.2_Missense_Mutation_p.E762Q|OPA1_ENST00000361150.2_Missense_Mutation_p.E708Q|OPA1_ENST00000361828.2_Missense_Mutation_p.E725Q|OPA1_ENST00000361908.3_Missense_Mutation_p.E744Q	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	707					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TGTTAAGGAAGAAAGTATTAA	0.383																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2284-2286)Gaa>Caa		optic atrophy 1 (autosomal dominant)							103.0	107.0	106.0					3																	193374974		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193374974G>C	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2119G>C	3.37:g.193374974G>C	ENSP00000376233:p.Glu707Gln					OPA1_ENST00000361828.2_Missense_Mutation_p.E725Q|OPA1_ENST00000361908.3_Missense_Mutation_p.E744Q|OPA1_ENST00000392438.3_Missense_Mutation_p.E707Q|OPA1_ENST00000361150.2_Missense_Mutation_p.E708Q|OPA1_ENST00000361715.2_Missense_Mutation_p.E726Q	p.E762Q	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	23	2518	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		707					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.2284G>C	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	32	5.192617	0.94960	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.95622	-3.34;-3.35;-3.31;-3.33;-3.37;-3.76	5.78	5.78	0.91487	.	0.204266	0.53938	D	0.000049	D	0.97470	0.9172	M	0.69823	2.125	0.80722	D	1	P;D;D;D;P;P;D;D	0.76494	0.943;0.999;0.967;0.967;0.95;0.943;0.997;0.969	P;D;P;P;P;P;D;P	0.75484	0.695;0.915;0.81;0.81;0.638;0.695;0.986;0.759	D	0.97412	1.0003	10	0.54805	T	0.06	-23.6123	18.996	0.92813	0.0:0.0:1.0:0.0	.	671;707;689;708;725;744;726;762	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	Q	744;707;762;726;725;708	ENSP00000354681:E744Q;ENSP00000376233:E707Q;ENSP00000355324:E762Q;ENSP00000355311:E726Q;ENSP00000354429:E725Q;ENSP00000354781:E708Q	ENSP00000354781:E708Q	E	+	1	0	OPA1	194857668	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.722000	0.93159	0.655000	0.94253	GAA		0.383	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		60	477	0	0	0	1	0	60	477				
PCDHA11	56138	broad.mit.edu	37	5	140248986	140248986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140248986G>A	ENST00000398640.2	+	1	298	c.298G>A	c.(298-300)Gcg>Acg	p.A100T	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	100	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCAGAGCGCGGAGTGCAG	0.562																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(298-300)Gcg>Acg									143.0	159.0	154.0					5																	140248986		2203	4297	6500	SO:0001583	missense	0							g.chr5:140248986G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.298G>A	5.37:g.140248986G>A	ENSP00000381636:p.Ala100Thr					PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	p.A100T	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	298	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.298G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	8.885	0.952502	0.18431	.	.	ENSG00000249158	ENST00000398640	T	0.38560	1.13	5.59	-3.03	0.05429	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.28200	0.0696	L	0.35644	1.08	0.09310	N	1	B;B	0.33212	0.055;0.402	B;B	0.24541	0.009;0.054	T	0.07908	-1.0748	9	0.39692	T	0.17	.	12.5858	0.56416	0.0:0.4551:0.3038:0.2411	.	100;100	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	T	100	ENSP00000381636:A100T	ENSP00000381636:A100T	A	+	1	0	PCDHA11	140229170	0.000000	0.05858	0.072000	0.20136	0.403000	0.30841	-4.056000	0.00304	-0.519000	0.06444	-0.181000	0.13052	GCG		0.562	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		127	1017	0	0	0	1	0	127	1017				
MB21D2	151963	broad.mit.edu	37	3	192517236	192517236	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:192517236G>A	ENST00000392452.2	-	2	735	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	139							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GCTGAGTGGCGCATGTCGAGT	0.507																																						ENST00000392452.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						c.(415-417)Cgc>Tgc		Mab-21 domain containing 2							92.0	81.0	85.0					3																	192517236		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192517236G>A	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.415C>T	3.37:g.192517236G>A	ENSP00000376246:p.Arg139Cys						p.R139C	NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN			2	735	-			139					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.415C>T	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517547	0.44763	.	.	ENSG00000180611	ENST00000392452	T	0.08896	3.04	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.13670	0.0331	M	0.65975	2.015	0.80722	D	1	P	0.48294	0.908	B	0.39299	0.296	T	0.01330	-1.1383	10	0.59425	D	0.04	-20.9645	18.6977	0.91607	0.0:0.0:1.0:0.0	.	139	Q8IYB1	M21D2_HUMAN	C	139	ENSP00000376246:R139C	ENSP00000376246:R139C	R	-	1	0	MB21D2	193999930	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.110000	0.71535	2.652000	0.90054	0.655000	0.94253	CGC		0.507	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		5	254	0	0	0	1	0	5	254				
PCDHA6	56142	broad.mit.edu	37	5	140209287	140209287	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140209287G>A	ENST00000529310.1	+	1	1725	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCGG	0.682																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1609-1611)gcG>gcA									63.0	72.0	69.0					5																	140209287		2202	4297	6499	SO:0001819	synonymous_variant	0							g.chr5:140209287G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1611G>A	5.37:g.140209287G>A						PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.A537A	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1725	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1611G>A	CCDS47281.1																																																																																				0.682	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		86	559	0	0	0	1	0	86	559				
RDH5	5959	broad.mit.edu	37	12	56118220	56118220	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:56118220C>A	ENST00000257895.5	+	5	1000	c.848C>A	c.(847-849)cCa>cAa	p.P283Q	RDH5_ENST00000547072.1_Missense_Mutation_p.P186Q|RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000548082.1_Missense_Mutation_p.P283Q	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	283					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	retinol dehydrogenase activity (GO:0004745)	p.Y281fs*>29(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					Vitamin A(DB00162)	CGCTACAGCCCAGGTTGGGAT	0.632											OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000257895.5																			1	Deletion - Frameshift(1)	p.Y281fs*>29(1)	breast(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12						c.(847-849)cCa>cAa		retinol dehydrogenase 5 (11-cis/9-cis)	NADH(DB00157)|Vitamin A(DB00162)						124.0	112.0	116.0					12																	56118220		2203	4300	6503	SO:0001583	missense	5959				response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity	g.chr12:56118220C>A	U89717	CCDS31829.1	12q13-q14	2013-06-03	2006-05-09			ENSG00000135437	1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	9940	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 5"""	601617	"""retinol dehydrogenase 5 (11-cis and 9-cis)"""	RDH1		9115228, 8884265, 19027726	Standard	NM_002905		Approved	HSD17B9, SDR9C5	uc001shl.3	Q92781	OTTHUMG00000170126	ENST00000257895.5:c.848C>A	12.37:g.56118220C>A	ENSP00000257895:p.Pro283Gln		OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000548082.1_Missense_Mutation_p.P283Q|RDH5_ENST00000547072.1_Missense_Mutation_p.P186Q	p.P283Q	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN			5	1000	+			283					O00179|Q8TAI2	Missense_Mutation	SNP	ENST00000257895.5	37	c.848C>A	CCDS31829.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036463	0.93630	.	.	ENSG00000135437	ENST00000547072;ENST00000257895;ENST00000548082	D;D;D	0.87179	-2.22;-2.22;-2.22	4.92	4.92	0.64577	NAD(P)-binding domain (1);	0.121529	0.56097	D	0.000038	D	0.93171	0.7825	M	0.88450	2.955	0.45330	D	0.998329	D	0.58620	0.983	P	0.57960	0.83	D	0.94197	0.7446	10	0.62326	D	0.03	.	15.973	0.80034	0.0:1.0:0.0:0.0	.	283	Q92781	RDH1_HUMAN	Q	186;283;283	ENSP00000449927:P186Q;ENSP00000257895:P283Q;ENSP00000447128:P283Q	ENSP00000257895:P283Q	P	+	2	0	RDH5	54404487	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	6.045000	0.71020	2.449000	0.82847	0.561000	0.74099	CCA		0.632	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407493.1	NM_002905		83	695	1	0	5.25376e-55	1	5.59714e-55	83	695				
KRTAP10-5	386680	broad.mit.edu	37	21	45999841	45999841	+	Silent	SNP	A	A	G	rs183168612	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr21:45999841A>G	ENST00000400372.1	-	1	640	c.615T>C	c.(613-615)tgT>tgC	p.C205C	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	205	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.C205C(2)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						AAGCCGGCTGACAGCTAGACT	0.632													.|||	12	0.00239617	0.0061	0.0029	5008	,	,		22259	0.0		0.0	False		,,,				2504	0.002					ENST00000400372.1																			2	Substitution - coding silent(2)	p.C205C(2)	lung(1)|prostate(1)	endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(613-615)tgT>tgC		keratin associated protein 10-5							155.0	160.0	158.0					21																	45999841		2203	4300	6503	SO:0001819	synonymous_variant	386680					keratin filament		g.chr21:45999841A>G	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.615T>C	21.37:g.45999841A>G						TSPEAR_ENST00000323084.4_Intron	p.C205C	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN			1	640	-			205			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Silent	SNP	ENST00000400372.1	37	c.615T>C	CCDS42958.1																																																																																				0.632	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			7	860	0	0	0	1	0	7	860				
DPY19L2	283417	broad.mit.edu	37	12	64041124	64041124	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:64041124A>G	ENST00000324472.4	-	5	793	c.610T>C	c.(610-612)Tgc>Cgc	p.C204R	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	204					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATGAATGTGCAATACCAGGAG	0.303																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(610-612)Tgc>Cgc		dpy-19-like 2 (C. elegans)							71.0	75.0	74.0					12																	64041124		2203	4298	6501	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64041124A>G		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.610T>C	12.37:g.64041124A>G	ENSP00000315988:p.Cys204Arg					RP11-415I12.3_ENST00000509615.2_RNA	p.C204R	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	5	793	-			204					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.610T>C	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.080093	0.00035	.	.	ENSG00000177990	ENST00000324472	T	0.44482	0.92	2.35	1.43	0.22495	.	0.072625	0.53938	N	0.000041	T	0.23210	0.0561	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05241	-1.0897	8	.	.	.	.	5.3731	0.16150	0.1764:0.0:0.8236:0.0	.	204	Q6NUT2	D19L2_HUMAN	R	204	ENSP00000315988:C204R	.	C	-	1	0	DPY19L2	62327391	1.000000	0.71417	0.580000	0.28601	0.408000	0.30992	2.818000	0.48041	0.315000	0.23110	-1.392000	0.01152	TGC		0.303	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		7	506	0	0	0	1	0	7	506				
MYOT	9499	broad.mit.edu	37	5	137217667	137217667	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:137217667G>A	ENST00000239926.4	+	6	1063	c.689G>A	c.(688-690)aGa>aAa	p.R230K	RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.R46K|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.R115K	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	230	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGTAGAAGTAGATCAACCTCA	0.338																																						ENST00000239926.4																			0				cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(688-690)aGa>aAa		myotilin							96.0	94.0	95.0					5																	137217667		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137217667G>A	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.689G>A	5.37:g.137217667G>A	ENSP00000239926:p.Arg230Lys					MYOT_ENST00000515645.1_Missense_Mutation_p.R115K|MYOT_ENST00000421631.2_Missense_Mutation_p.R46K|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA	p.R230K	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		6	1063	+			230			Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.689G>A	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362623	0.61403	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.68479	-0.31;-0.24;-0.33	5.61	5.61	0.85477	.	0.138225	0.50627	D	0.000114	T	0.55673	0.1935	N	0.24115	0.695	0.43183	D	0.995004	B	0.26483	0.15	B	0.19946	0.027	T	0.50668	-0.8801	10	0.36615	T	0.2	.	19.6288	0.95691	0.0:0.0:1.0:0.0	.	230	Q9UBF9	MYOTI_HUMAN	K	230;46;115	ENSP00000239926:R230K;ENSP00000391185:R46K;ENSP00000426281:R115K	ENSP00000239926:R230K	R	+	2	0	MYOT	137245566	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.845000	0.86875	2.644000	0.89710	0.591000	0.81541	AGA		0.338	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		46	234	0	0	0	1	0	46	234				
TOMM22	56993	broad.mit.edu	37	22	39079827	39079827	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr22:39079827C>T	ENST00000216034.4	+	4	441	c.410C>T	c.(409-411)tCa>tTa	p.S137L	RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000412067.1_RNA|RP3-508I15.9_ENST00000444381.1_RNA	NM_020243.4	NP_064628.1	Q9NS69	TOM22_HUMAN	translocase of outer mitochondrial membrane 22 homolog (yeast)	137	C-tail signal; necessary for mitochondrion outer membrane localization and integration in the TOM complex. {ECO:0000250}.				cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			large_intestine(1)|lung(2)	3	Melanoma(58;0.04)					GCTCTACCCTCACTTCCTGGA	0.433																																						ENST00000216034.4																			0				large_intestine(1)|lung(2)	3						c.(409-411)tCa>tTa		translocase of outer mitochondrial membrane 22 homolog (yeast)							135.0	122.0	127.0					22																	39079827		2203	4300	6503	SO:0001583	missense	56993				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity|receptor activity	g.chr22:39079827C>T	AB040119	CCDS13975.1	22q12-q13	2010-07-29			ENSG00000100216	ENSG00000100216			18002	protein-coding gene	gene with protein product		607046				10982837, 10900208	Standard	NM_020243		Approved	TOM22	uc003awe.3	Q9NS69	OTTHUMG00000150991	ENST00000216034.4:c.410C>T	22.37:g.39079827C>T	ENSP00000216034:p.Ser137Leu						p.S137L	NM_020243.4	NP_064628.1	Q9NS69	TOM22_HUMAN			4	441	+	Melanoma(58;0.04)		137			C-tail signal; necessary for mitochondrion outer membrane localization and integration in the TOM complex (By similarity).			Missense_Mutation	SNP	ENST00000216034.4	37	c.410C>T	CCDS13975.1	.	.	.	.	.	.	.	.	.	.	C	9.388	1.074761	0.20227	.	.	ENSG00000100216	ENST00000216034	.	.	.	5.52	3.44	0.39384	.	0.176473	0.50627	D	0.000106	T	0.26846	0.0657	N	0.11560	0.145	0.32814	D	0.501897	B	0.02656	0.0	B	0.04013	0.001	T	0.20773	-1.0265	9	0.30078	T	0.28	-0.006	10.5986	0.45354	0.0:0.8507:0.0:0.1493	.	137	Q9NS69	TOM22_HUMAN	L	137	.	ENSP00000216034:S137L	S	+	2	0	TOMM22	37409773	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.034000	0.76511	0.704000	0.31869	0.563000	0.77884	TCA		0.433	TOMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320842.1			30	214	0	0	0	1	0	30	214				
KALRN	8997	broad.mit.edu	37	3	123953690	123953690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:123953690C>T	ENST00000240874.3	+	3	314	c.157C>T	c.(157-159)Cga>Tga	p.R53*	KALRN_ENST00000460856.1_Nonsense_Mutation_p.R53*|KALRN_ENST00000360013.3_Nonsense_Mutation_p.R53*	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	53	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCGTGATAAGCGAGGCGGACC	0.507																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(157-159)Cga>Tga		kalirin, RhoGEF kinase							38.0	32.0	34.0					3																	123953690		2203	4300	6503	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:123953690C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.157C>T	3.37:g.123953690C>T	ENSP00000240874:p.Arg53*					KALRN_ENST00000240874.3_Nonsense_Mutation_p.R53*|KALRN_ENST00000460856.1_Nonsense_Mutation_p.R53*	p.R53*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			3	284	+			53			CRAL-TRIO.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000240874.3	37	c.157C>T	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	c	39	7.391663	0.98255	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	.	.	.	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3878	0.94565	0.0:1.0:0.0:0.0	.	.	.	.	X	53	.	ENSP00000240874:R53X	R	+	1	2	KALRN	125436380	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.304000	0.43655	2.573000	0.86826	0.651000	0.88453	CGA		0.507	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		9	61	0	0	0	1	0	9	61				
RUNX3	864	broad.mit.edu	37	1	25229012	25229012	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:25229012C>T	ENST00000308873.6	-	5	857	c.849G>A	c.(847-849)acG>acA	p.T283T	RUNX3_ENST00000540420.1_Silent_p.T190T|RUNX3_ENST00000496967.1_5'Flank|RUNX3_ENST00000338888.3_Silent_p.T297T|RUNX3_ENST00000399916.1_Silent_p.T297T	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	283	Pro/Ser/Thr-rich.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TGCCCGAGGGCGTGGCGCTGT	0.701																																						ENST00000399916.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(889-891)acG>acA		runt-related transcription factor 3							41.0	49.0	47.0					1																	25229012		2202	4298	6500	SO:0001819	synonymous_variant	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25229012C>T	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.849G>A	1.37:g.25229012C>T						RUNX3_ENST00000540420.1_Silent_p.T190T|RUNX3_ENST00000308873.6_Silent_p.T283T|RUNX3_ENST00000338888.3_Silent_p.T297T	p.T297T	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	6	1329	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	283	MP -> IS (in Ref. 2; CAA56093).		Pro/Ser/Thr-rich.		B1AJV5|Q12969|Q13760	Silent	SNP	ENST00000308873.6	37	c.891G>A	CCDS257.1																																																																																				0.701	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		36	326	0	0	0	1	0	36	326				
ZSCAN5B	342933	broad.mit.edu	37	19	56704341	56704341	+	Silent	SNP	C	C	A	rs139794340		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:56704341C>A	ENST00000586855.2	-	2	394	c.81G>T	c.(79-81)gcG>gcT	p.A27A	ZSCAN5B_ENST00000358992.3_Silent_p.A27A			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	27					regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTTCTGGGGACGCCACAGACC	0.537																																						ENST00000586855.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(79-81)gcG>gcT		zinc finger and SCAN domain containing 5B							66.0	56.0	59.0					19																	56704341		692	1591	2283	SO:0001819	synonymous_variant	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56704341C>A		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.81G>T	19.37:g.56704341C>A						ZSCAN5B_ENST00000358992.3_Silent_p.A27A	p.A27A			A6NJL1	ZSA5B_HUMAN			2	394	-			27						Silent	SNP	ENST00000586855.2	37	c.81G>T	CCDS46203.1																																																																																				0.537	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		5	65	1	0	0.00198382	1	0.00200846	5	65				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	448	0	0	0	1	0	6	448				
DUS3L	56931	broad.mit.edu	37	19	5789413	5789413	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:5789413G>C	ENST00000309061.7	-	3	801	c.705C>G	c.(703-705)ttC>ttG	p.F235L	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	235							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)	p.F235F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GGCCCTGGCTGAACCGGCGCA	0.726																																						ENST00000309061.7																			1	Substitution - coding silent(1)	p.F235F(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(703-705)ttC>ttG		dihydrouridine synthase 3-like (S. cerevisiae)							7.0	10.0	9.0					19																	5789413		2144	4183	6327	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5789413G>C		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.705C>G	19.37:g.5789413G>C	ENSP00000311977:p.Phe235Leu					DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	p.F235L	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			3	801	-			235					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.705C>G	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	G	1.085	-0.665736	0.03428	.	.	ENSG00000141994	ENST00000309061	T	0.14266	2.52	4.53	-9.07	0.00724	.	0.376802	0.24143	N	0.041152	T	0.01387	0.0045	N	0.00382	-1.575	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35773	-0.9775	10	0.02654	T	1	-9.2867	0.113	0.00058	0.2789:0.1848:0.2504:0.2858	.	235	Q96G46	DUS3L_HUMAN	L	235	ENSP00000311977:F235L	ENSP00000311977:F235L	F	-	3	2	DUS3L	5740413	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.253000	0.00539	-2.940000	0.00297	-1.330000	0.01273	TTC		0.726	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		6	30	0	0	0	1	0	6	30				
CNTNAP2	26047	broad.mit.edu	37	7	147869372	147869372	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:147869372C>T	ENST00000361727.3	+	18	3328	c.2812C>T	c.(2812-2814)Cgc>Tgc	p.R938C	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	938	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGGCTGCATCCGCTCCTTGAG	0.542										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(2812-2814)Cgc>Tgc		contactin associated protein-like 2							68.0	67.0	67.0					7																	147869372		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147869372C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2812C>T	7.37:g.147869372C>T	ENSP00000354778:p.Arg938Cys	HNSCC(39;0.1)				CNTNAP2_ENST00000538075.1_5'UTR	p.R938C	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		18	3328	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	938			Laminin G-like 3.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2812C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536423	0.85812	.	.	ENSG00000174469	ENST00000361727	T	0.81163	-1.46	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.93890	0.8045	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95993	0.8987	10	0.87932	D	0	.	17.7817	0.88526	0.0:1.0:0.0:0.0	.	938	Q9UHC6	CNTP2_HUMAN	C	938	ENSP00000354778:R938C	ENSP00000354778:R938C	R	+	1	0	CNTNAP2	147500305	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.729000	0.62008	2.552000	0.86080	0.655000	0.94253	CGC		0.542	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			57	233	0	0	0	1	0	57	233				
PCDHGA4	56111	broad.mit.edu	37	5	140734960	140734960	+	Missense_Mutation	SNP	C	C	T	rs375047889		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140734960C>T	ENST00000571252.1	+	1	193	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGAGTCCGCATCGTCTC	0.647																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(193-195)Cgc>Tgc				C	,,,CYS/ARG,,CYS/ARG	2,4384		0,2,2191	54.0	66.0	62.0		,,,193,,193	5.7	1.0	5		62	0,8600		0,0,4300	no	intron,intron,intron,missense,intron,missense	PCDHGB1,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018922.2,NM_032053.1	,,,180,,180	0,2,6491	TT,TC,CC		0.0,0.0456,0.0154	,,,,,	,,,65/932,,65/821	140734960	2,12984	2193	4300	6493	SO:0001583	missense	0							g.chr5:140734960C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.193C>T	5.37:g.140734960C>T	ENSP00000458570:p.Arg65Cys					PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.R65C	NM_018917.2	NP_061740.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	193	+								Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.193C>T	CCDS58979.1																																																																																				0.647	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		19	462	0	0	0	1	0	19	462				
OBSCN	84033	broad.mit.edu	37	1	228547344	228547344	+	Intron	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:228547344C>T	ENST00000422127.1	+	80	18705				OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3370W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R6251W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGCCAACGACGGTCCCCCAG	0.672																																						ENST00000284548.11																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(18751-18753)Cgg>Tgg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							18.0	23.0	22.0					1																	228547344		2092	4221	6313	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228547344C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18662-2933C>T	1.37:g.228547344C>T						OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3370W|OBSCN_ENST00000570156.2_Intron	p.R6251W			Q5VST9	OBSCN_HUMAN			81	18825	+		Prostate(94;0.0405)	6252					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.18751C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150761	0.57151	.	.	ENSG00000154358	ENST00000284548;ENST00000366709	T;T	0.57907	0.37;0.52	4.56	3.63	0.41609	.	.	.	.	.	T	0.57814	0.2079	L	0.47716	1.5	0.09310	N	1	D	0.76494	0.999	P	0.53861	0.736	T	0.50311	-0.8843	9	0.52906	T	0.07	.	12.8928	0.58082	0.3102:0.6898:0.0:0.0	.	6251	Q5VST9-3	.	W	6251;3370	ENSP00000284548:R6251W;ENSP00000355670:R3370W	ENSP00000284548:R6251W	R	+	1	2	OBSCN	226613967	0.355000	0.24921	0.001000	0.08648	0.015000	0.08874	1.160000	0.31761	1.119000	0.41883	0.556000	0.70494	CGG		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	54	0	0	0	1	0	6	54				
BMS1P20	96610	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A	rs371682346		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr22:22664743G>A	ENST00000426066.1	+	0	924					NR_027293.1				BMS1 pseudogene 20																		CAGACTAAAGGCAAACAAGGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664743G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664743G>A								NR_027293.1						0	924	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			6	151	0	0	0	1	0	6	151				
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr4:146059041A>G	ENST00000447906.2	-	21	3073	c.2886T>C	c.(2884-2886)caT>caC	p.H962H	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Silent_p.H897H			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	962					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2689-2691)caT>caC		OTU domain containing 4							118.0	118.0	118.0					4																	146059041		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146059041A>G		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2886T>C	4.37:g.146059041A>G						OTUD4_ENST00000447906.2_Silent_p.H962H|OTUD4_ENST00000455611.2_Intron	p.H897H	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2828	-	all_hematologic(180;0.151)		961					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2691T>C																																																																																					0.478	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		5	494	0	0	0	1	0	5	494				
NFASC	23114	broad.mit.edu	37	1	204970416	204970416	+	Splice_Site	SNP	T	T	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:204970416T>A	ENST00000401399.1	+	25	3335		c.e25+2		NFASC_ENST00000339876.6_Splice_Site|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000367172.4_Splice_Site|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000495396.1_Intron			O94856	NFASC_HUMAN	neurofascin						axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACATCGACAGTAAGCATTGCT	0.577																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.e28+2		neurofascin							60.0	51.0	54.0					1																	204970416		1567	3582	5149	SO:0001630	splice_region_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204970416T>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3136+2T>A	1.37:g.204970416T>A						NFASC_ENST00000360049.4_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000401399.1_Splice_Site|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000339876.6_Splice_Site|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000495396.1_Intron				O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		28	3785	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)							B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Splice_Site	SNP	ENST00000401399.1	37		CCDS53460.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.541581	0.85917	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000339876;ENST00000401399;ENST00000413225	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1035	0.72303	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFASC	203237039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.978000	0.76147	2.054000	0.61138	0.533000	0.62120	.		0.577	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	Intron	9	70	0	0	0	1	0	9	70				
CCDC15	80071	broad.mit.edu	37	11	124857652	124857652	+	Silent	SNP	G	G	A	rs111966038		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:124857652G>A	ENST00000344762.5	+	8	1789	c.1530G>A	c.(1528-1530)ttG>ttA	p.L510L	CCDC15_ENST00000529051.1_Silent_p.L510L	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	510						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AGAATTTTTTGTCTAGAGACC	0.388													A|||	1	0.000199681	0.0	0.0014	5008	,	,		18741	0.0		0.0	False		,,,				2504	0.0					ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1528-1530)ttG>ttA		coiled-coil domain containing 15							148.0	141.0	144.0					11																	124857652		1808	4073	5881	SO:0001819	synonymous_variant	80071					centrosome		g.chr11:124857652G>A	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1530G>A	11.37:g.124857652G>A						CCDC15_ENST00000344762.5_Silent_p.L510L	p.L510L			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1789	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	510					Q9H8U7	Silent	SNP	ENST00000344762.5	37	c.1530G>A	CCDS44756.1																																																																																				0.388	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		8	740	0	0	0	1	0	8	740				
PCNX	22990	broad.mit.edu	37	14	71455320	71455320	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:71455320G>A	ENST00000304743.2	+	7	2794	c.2348G>A	c.(2347-2349)cGt>cAt	p.R783H	PCNX_ENST00000439984.3_Intron|PCNX_ENST00000238570.5_Missense_Mutation_p.R783H	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	783						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TCATTTCGCCGTGAACGCAGC	0.547																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(2347-2349)cGt>cAt		pecanex homolog (Drosophila)							138.0	116.0	124.0					14																	71455320		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71455320G>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.2348G>A	14.37:g.71455320G>A	ENSP00000304192:p.Arg783His					PCNX_ENST00000238570.5_Missense_Mutation_p.R783H|PCNX_ENST00000439984.3_Intron	p.R783H	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	7	2794	+			783					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.2348G>A	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596374	0.86953	.	.	ENSG00000100731	ENST00000304743;ENST00000238570	T;T	0.01059	5.39;5.39	5.01	5.01	0.66863	.	0.110787	0.64402	D	0.000008	T	0.05640	0.0148	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	T	0.47911	-0.9080	10	0.42905	T	0.14	.	18.8684	0.92303	0.0:0.0:1.0:0.0	.	783;783	Q96RV3;Q96RV3-2	PCX1_HUMAN;.	H	783	ENSP00000304192:R783H;ENSP00000238570:R783H	ENSP00000238570:R783H	R	+	2	0	PCNX	70525073	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.203000	0.95033	2.767000	0.95098	0.591000	0.81541	CGT		0.547	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		5	529	0	0	0	1	0	5	529				
TUBA3C	7278	broad.mit.edu	37	13	19751261	19751261	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:19751261C>T	ENST00000400113.3	-	4	966	c.862G>A	c.(862-864)Gtg>Atg	p.V288M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	288					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATCTCAGCCACGGACAGCTGC	0.607																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(862-864)Gtg>Atg		tubulin, alpha 3c							150.0	133.0	138.0					13																	19751261		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751261C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.862G>A	13.37:g.19751261C>T	ENSP00000382982:p.Val288Met						p.V288M	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	966	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	288					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.862G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	10.38	1.334912	0.24253	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.88046	-2.33	1.19	1.19	0.21007	.	0.000000	0.42294	U	0.000740	D	0.88662	0.6497	.	.	.	0.41188	D	0.986281	.	.	.	.	.	.	D	0.87966	0.2733	7	0.87932	D	0	.	8.3297	0.32178	0.0:1.0:0.0:0.0	.	.	.	.	M	288	ENSP00000382982:V288M	ENSP00000354037:V288M	V	-	1	0	TUBA3C	18649261	1.000000	0.71417	0.985000	0.45067	0.516000	0.34256	6.295000	0.72744	0.972000	0.38314	0.175000	0.17021	GTG		0.607	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		77	619	0	0	0	1	0	77	619				
TRUB1	142940	broad.mit.edu	37	10	116698211	116698211	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:116698211T>C	ENST00000298746.3	+	1	260	c.199T>C	c.(199-201)Tcc>Ccc	p.S67P	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	67					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CAAGCTGCTGTCCTTGAGCGG	0.662																																						ENST00000298746.3																			0				breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12						c.(199-201)Tcc>Ccc		TruB pseudouridine (psi) synthase family member 1							13.0	13.0	13.0					10																	116698211		2198	4299	6497	SO:0001583	missense	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116698211T>C	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.199T>C	10.37:g.116698211T>C	ENSP00000298746:p.Ser67Pro					TRUB1_ENST00000485065.1_3'UTR	p.S67P	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	1	260	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	67					B2R716|Q53ES2	Missense_Mutation	SNP	ENST00000298746.3	37	c.199T>C	CCDS7591.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.863849	0.71949	.	.	ENSG00000165832	ENST00000298746	T	0.43688	0.94	6.17	6.17	0.99709	Pseudouridine synthase, catalytic domain (1);	0.053893	0.85682	D	0.000000	T	0.60843	0.2300	M	0.61703	1.905	0.54753	D	0.99998	D	0.71674	0.998	D	0.78314	0.991	T	0.58165	-0.7684	10	0.35671	T	0.21	-12.9692	14.3455	0.66658	0.0:0.0:0.0:1.0	.	67	Q8WWH5	TRUB1_HUMAN	P	67	ENSP00000298746:S67P	ENSP00000298746:S67P	S	+	1	0	TRUB1	116688201	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.299000	0.51826	2.371000	0.80710	0.533000	0.62120	TCC		0.662	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169		8	26	0	0	0	1	0	8	26				
PRG4	10216	broad.mit.edu	37	1	186276229	186276229	+	Missense_Mutation	SNP	A	A	G	rs200751463		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:186276229A>G	ENST00000445192.2	+	7	1423	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A	PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	460	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T460A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTACACCCACCAC	0.657																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.T460A(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1378-1380)Aca>Gca		proteoglycan 4							86.0	95.0	92.0					1																	186276229		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276229A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1378A>G	1.37:g.186276229A>G	ENSP00000399679:p.Thr460Ala					PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A	p.T460A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1423	+			460			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1378A>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	5.758	0.324291	0.10900	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.03689	3.86;3.95;3.84;3.94	3.89	-1.26	0.09376	.	1.548120	0.04848	N	0.441778	T	0.01254	0.0041	N	0.01188	-0.97	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.45760	-0.9239	9	.	.	.	.	1.0401	0.01557	0.3011:0.1615:0.3744:0.163	.	326;367;460;419	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	A	417;326;419;367;460	ENSP00000356456:T417A;ENSP00000356453:T419A;ENSP00000356455:T367A;ENSP00000399679:T460A	.	T	+	1	0	PRG4	184542852	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.973000	0.00666	-0.043000	0.13513	-1.818000	0.00600	ACA		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	408	0	0	0	1	0	8	408				
CMYA5	202333	broad.mit.edu	37	5	79024983	79024983	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:79024983G>A	ENST00000446378.2	+	2	426	c.395G>A	c.(394-396)cGg>cAg	p.R132Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	132					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAAGGTTCGGAAAAGGACT	0.408																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(394-396)cGg>cAg		cardiomyopathy associated 5							133.0	130.0	131.0					5																	79024983		1857	4097	5954	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79024983G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.395G>A	5.37:g.79024983G>A	ENSP00000394770:p.Arg132Gln						p.R132Q	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	426	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	132					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.395G>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705355	0.48412	.	.	ENSG00000164309	ENST00000446378	T	0.57107	0.42	5.37	3.57	0.40892	.	0.470309	0.18113	N	0.151298	T	0.34687	0.0906	L	0.36672	1.1	0.23107	N	0.998284	P	0.52577	0.954	B	0.35899	0.213	T	0.32981	-0.9886	10	0.87932	D	0	.	5.7546	0.18166	0.222:0.143:0.6351:0.0	.	132	Q8N3K9	CMYA5_HUMAN	Q	132	ENSP00000394770:R132Q	ENSP00000394770:R132Q	R	+	2	0	CMYA5	79060739	0.991000	0.36638	0.690000	0.30148	0.895000	0.52256	2.194000	0.42668	0.620000	0.30215	-0.176000	0.13171	CGG		0.408	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		6	395	0	0	0	1	0	6	395				
KCNH2	3757	broad.mit.edu	37	7	150656796	150656796	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:150656796C>T	ENST00000262186.5	-	3	737	c.336G>A	c.(334-336)gtG>gtA	p.V112V	KCNH2_ENST00000430723.3_Silent_p.V112V|KCNH2_ENST00000392968.2_Silent_p.V16V	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	112	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TCACGGGCACCACATCCACCA	0.582																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(46-48)gtG>gtA		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						157.0	117.0	130.0					7																	150656796		2203	4300	6503	SO:0001819	synonymous_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150656796C>T	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.336G>A	7.37:g.150656796C>T						KCNH2_ENST00000262186.5_Silent_p.V112V|KCNH2_ENST00000430723.3_Silent_p.V112V	p.V16V			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	1168	-	all_neural(206;0.219)		112					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000262186.5	37	c.48G>A	CCDS5910.1																																																																																				0.582	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		46	201	0	0	0	1	0	46	201				
PYCRL	65263	broad.mit.edu	37	8	144688047	144688047	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:144688047C>T	ENST00000220966.6	-	6	713	c.684G>A	c.(682-684)acG>acA	p.T228T	PYCRL_ENST00000377579.3_Silent_p.T79T|PYCRL_ENST00000495276.1_5'UTR|RP11-661A12.14_ENST00000606452.1_lincRNA	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	216					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		L-Proline(DB00172)	GCATCTTGGCCGTCCCCTGAG	0.687																																						ENST00000220966.6																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(682-684)acG>acA		pyrroline-5-carboxylate reductase-like							66.0	61.0	63.0					8																	144688047		2203	4299	6502	SO:0001819	synonymous_variant	65263				proline biosynthetic process		pyrroline-5-carboxylate reductase activity	g.chr8:144688047C>T	AF086378	CCDS6407.2	8q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000104524	ENSG00000104524			25846	protein-coding gene	gene with protein product							Standard	NM_023078		Approved	FLJ13852	uc003yyy.3	Q53H96	OTTHUMG00000157010	ENST00000220966.6:c.684G>A	8.37:g.144688047C>T						PYCRL_ENST00000495276.1_5'UTR|PYCRL_ENST00000377579.3_Silent_p.T79T	p.T228T	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		6	713	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		216					B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Silent	SNP	ENST00000220966.6	37	c.684G>A	CCDS6407.2																																																																																				0.687	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347081.2	NM_023078		30	209	0	0	0	1	0	30	209				
PDZRN4	29951	broad.mit.edu	37	12	41966623	41966623	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:41966623A>C	ENST00000402685.2	+	10	2050	c.2042A>C	c.(2041-2043)cAg>cCg	p.Q681P	PDZRN4_ENST00000539469.2_Missense_Mutation_p.Q423P|PDZRN4_ENST00000298919.7_Missense_Mutation_p.Q421P	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	681							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CTTGAGTGTCAGAATATCATG	0.453																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1261-1263)cAg>cCg		PDZ domain containing ring finger 4							101.0	92.0	95.0					12																	41966623		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966623A>C	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2042A>C	12.37:g.41966623A>C	ENSP00000384197:p.Gln681Pro					PDZRN4_ENST00000539469.2_Missense_Mutation_p.Q423P|PDZRN4_ENST00000402685.2_Missense_Mutation_p.Q681P	p.Q421P			Q6ZMN7	PZRN4_HUMAN			10	1650	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	681			PDZ 2.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1262A>C	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625622	0.46840	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.72942	-0.7;3.77;3.77	4.49	4.49	0.54785	.	0.168540	0.41396	D	0.000898	T	0.80639	0.4661	L	0.56769	1.78	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.985	D;P;P	0.83275	0.996;0.905;0.905	T	0.80645	-0.1290	10	0.42905	T	0.14	-37.9358	14.4999	0.67714	1.0:0.0:0.0:0.0	.	681;421;423	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	P	681;423;421	ENSP00000384197:Q681P;ENSP00000439990:Q423P;ENSP00000298919:Q421P	ENSP00000298919:Q421P	Q	+	2	0	PDZRN4	40252890	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.146000	0.64845	1.987000	0.57996	0.528000	0.53228	CAG		0.453	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		32	240	0	0	0	1	0	32	240				
RPL23AP53	644128	broad.mit.edu	37	8	163187	163187	+	RNA	SNP	T	T	C	rs180938201		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:163187T>C	ENST00000606975.1	-	0	734									ribosomal protein L23a pseudogene 53																		TGAAAAACATTATTCTTTTAT	0.294																																						ENST00000606975.1																			0																																																			0							g.chr8:163187T>C			8p23.3	2014-06-17			ENSG00000223508	ENSG00000223508			35921	pseudogene	pseudogene						19123937	Standard	NR_003572		Approved		uc010lrb.4				8.37:g.163187T>C														0	734	-									RNA	SNP	ENST00000606975.1	37																																																																																						0.294	RPL23AP53-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470409.1	NR_003572		6	109	0	0	0	1	0	6	109				
DRD2	1813	broad.mit.edu	37	11	113295218	113295218	+	Silent	SNP	G	G	A	rs201114741	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:113295218G>A	ENST00000362072.3	-	2	500	c.156C>T	c.(154-156)aaC>aaT	p.N52N	DRD2_ENST00000346454.3_Silent_p.N52N|DRD2_ENST00000538967.1_Silent_p.N52N|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000544518.1_Silent_p.N52N|DRD2_ENST00000542968.1_Silent_p.N52N|DRD2_ENST00000355319.2_Silent_p.N52N	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	52					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.N52N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACACCAGCACGTTGCCGAAGA	0.627													G|||	4	0.000798722	0.0	0.0	5008	,	,		21071	0.0		0.0	False		,,,				2504	0.0041					ENST00000362072.3																			1	Substitution - coding silent(1)	p.N52N(1)	stomach(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39						c.(154-156)aaC>aaT		dopamine receptor D2	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	G	,	0,4402		0,0,2201	246.0	185.0	206.0		156,156	0.3	1.0	11		206	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous	DRD2	NM_000795.3,NM_016574.3	,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,	52/444,52/415	113295218	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113295218G>A	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.156C>T	11.37:g.113295218G>A						DRD2_ENST00000544518.1_Silent_p.N52N|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Silent_p.N52N|DRD2_ENST00000538967.1_Silent_p.N52N|DRD2_ENST00000355319.2_Silent_p.N52N|DRD2_ENST00000346454.3_Silent_p.N52N	p.N52N	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	2	500	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	52					Q9NZR3|Q9UPA9	Silent	SNP	ENST00000362072.3	37	c.156C>T	CCDS8361.1																																																																																				0.627	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		32	283	0	0	0	1	0	32	283				
CAD	790	broad.mit.edu	37	2	27458194	27458194	+	Missense_Mutation	SNP	G	G	A	rs376049827		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:27458194G>A	ENST00000403525.1	+	23	3823	c.3679G>A	c.(3679-3681)Ggc>Agc	p.G1227S	CAD_ENST00000264705.4_Missense_Mutation_p.G1290S			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGGTGGCCGGCTTTGGGGA	0.567																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(3868-3870)Ggc>Agc		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	G	SER/GLY	0,4406		0,0,2203	84.0	88.0	87.0		3868	-0.6	0.3	2		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	CAD	NM_004341.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1290/2226	27458194	1,13005	2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27458194G>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3679G>A	2.37:g.27458194G>A	ENSP00000384510:p.Gly1227Ser					CAD_ENST00000403525.1_Missense_Mutation_p.G1227S	p.G1290S	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			24	4030	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1290			CPSase (Carbamoyl-phosphate synthase).|CPSase B.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.3868G>A		.	.	.	.	.	.	.	.	.	.	G	15.20	2.762994	0.49574	0.0	1.16E-4	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97352	-4.35;-4.35	5.0	-0.591	0.11675	ATP-grasp fold, subdomain 2 (1);	0.221794	0.56097	D	0.000036	D	0.92051	0.7481	L	0.31157	0.91	0.34968	D	0.752909	B;P	0.39094	0.055;0.659	B;B	0.25140	0.011;0.058	D	0.87432	0.2389	10	0.54805	T	0.06	-1.5323	17.2291	0.86979	0.0:0.0:0.1961:0.8039	.	1227;1290	F8VPD4;P27708	.;PYR1_HUMAN	S	1290;1227	ENSP00000264705:G1290S;ENSP00000384510:G1227S	ENSP00000264705:G1290S	G	+	1	0	CAD	27311698	0.987000	0.35691	0.342000	0.25602	0.942000	0.58702	2.015000	0.40961	-0.347000	0.08299	0.655000	0.94253	GGC		0.567	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			7	412	0	0	0	1	0	7	412				
LIFR	3977	broad.mit.edu	37	5	38493808	38493808	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:38493808G>A	ENST00000263409.4	-	14	2127	c.1965C>T	c.(1963-1965)tgC>tgT	p.C655C	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.C655C	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	655	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGACGTAGTCGCAAGTCATGT	0.443			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(1963-1965)tgC>tgT		leukemia inhibitory factor receptor alpha							173.0	152.0	159.0					5																	38493808		2203	4300	6503	SO:0001819	synonymous_variant	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38493808G>A	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1965C>T	5.37:g.38493808G>A						LIFR_ENST00000453190.2_Silent_p.C655C|LIFR_ENST00000503088.1_5'UTR	p.C655C	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			14	2127	-	all_lung(31;0.00021)		655			Fibronectin type-III 5.		Q6LCD9	Silent	SNP	ENST00000263409.4	37	c.1965C>T	CCDS3927.1																																																																																				0.443	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		43	398	0	0	0	1	0	43	398				
ASB4	51666	broad.mit.edu	37	7	95115286	95115286	+	Start_Codon_SNP	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:95115286G>A	ENST00000325885.5	+	1	74	c.3G>A	c.(1-3)atG>atA	p.M1I	ASB4_ENST00000257621.4_Intron|ASB4_ENST00000428113.1_Start_Codon_SNP_p.M1I	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	1					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			GAGGAAGGATGGACGGCACCA	0.483																																						ENST00000325885.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20						c.(1-3)atG>atA		ankyrin repeat and SOCS box containing 4							61.0	58.0	59.0					7																	95115286		2203	4300	6503	SO:0001582	initiator_codon_variant	51666				intracellular signal transduction			g.chr7:95115286G>A	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.3G>A	7.37:g.95115286G>A	ENSP00000321388:p.Met1Ile					ASB4_ENST00000257621.4_Intron|ASB4_ENST00000428113.1_Start_Codon_SNP_p.M1I	p.M1I	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		1	74	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		1					A4D1H6|O14586|Q14D68|Q8TBT2	Translation_Start_Site	SNP	ENST00000325885.5	37	c.3G>A	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250406	0.39797	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.47528	1.09;0.84	5.2	5.2	0.72013	.	0.308175	0.36972	N	0.002314	T	0.34077	0.0885	.	.	.	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.35051	-0.9804	9	0.87932	D	0	-2.8955	4.845	0.13509	0.1844:0.188:0.6276:0.0	.	1;1	Q9Y574;Q14D68	ASB4_HUMAN;.	I	1	ENSP00000321388:M1I;ENSP00000397070:M1I	ENSP00000321388:M1I	M	+	3	0	ASB4	94953222	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	2.083000	0.41615	2.882000	0.98803	0.655000	0.94253	ATG		0.483	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116	Missense_Mutation	27	110	0	0	0	1	0	27	110				
TXNDC2	84203	broad.mit.edu	37	18	9887074	9887074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr18:9887074G>A	ENST00000306084.6	+	2	797	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	TXNDC2_ENST00000357775.5_Missense_Mutation_p.E133K|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	200	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAGAAGCCATCCA	0.577																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(598-600)Gaa>Aaa		thioredoxin domain containing 2 (spermatozoa)							152.0	154.0	153.0					18																	9887074		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887074G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.598G>A	18.37:g.9887074G>A	ENSP00000304908:p.Glu200Lys					TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K	p.E200K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	797	+			200			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.598G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	g	1.272	-0.612710	0.03690	.	.	ENSG00000168454	ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16457	2.34;2.34	3.48	-6.08	0.02151	.	1.613580	0.03995	N	0.295530	T	0.05456	0.0144	N	0.02539	-0.55	0.09310	N	1	B	0.18013	0.025	B	0.11329	0.006	T	0.34204	-0.9838	9	.	.	.	-1.8327	6.0796	0.19935	0.4735:0.3503:0.1761:0.0	.	200	Q86VQ3	TXND2_HUMAN	K	133;200;200	ENSP00000350419:E133K;ENSP00000304908:E200K	.	E	+	1	0	TXNDC2	9877074	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.583000	0.00904	-0.859000	0.04105	-0.300000	0.09419	GAA		0.577	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			9	695	0	0	0	1	0	9	695				
CSPP1	79848	broad.mit.edu	37	8	67998296	67998296	+	Missense_Mutation	SNP	A	A	T	rs370605967		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:67998296A>T	ENST00000262210.5	+	4	393	c.362A>T	c.(361-363)cAt>cTt	p.H121L	CSPP1_ENST00000412460.1_5'UTR|COPS5_ENST00000519963.1_5'Flank	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	121					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CGGAAGAAACATAAATTAAAA	0.313																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(361-363)cAt>cTt		centrosome and spindle pole associated protein 1							125.0	120.0	122.0					8																	67998296		1816	4064	5880	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:67998296A>T	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.362A>T	8.37:g.67998296A>T	ENSP00000262210:p.His121Leu					CSPP1_ENST00000412460.1_5'UTR	p.H121L	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		4	393	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	121					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.362A>T	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.818020	0.32145	.	.	ENSG00000104218	ENST00000521919;ENST00000262210;ENST00000389042	T;T	0.64618	-0.11;1.4	5.6	4.45	0.53987	.	0.267871	0.17979	U	0.155585	T	0.46889	0.1416	L	0.33485	1.01	0.80722	D	1	B;B;B	0.26258	0.019;0.145;0.145	B;B;B	0.22753	0.007;0.041;0.041	T	0.48103	-0.9064	10	0.46703	T	0.11	-18.2211	6.2761	0.20981	0.7839:0.0:0.0742:0.1419	.	121;121;121	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	L	85;121;121	ENSP00000429546:H85L;ENSP00000262210:H121L	ENSP00000262210:H121L	H	+	2	0	CSPP1	68160850	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	3.322000	0.52007	2.127000	0.65507	0.477000	0.44152	CAT		0.313	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		74	447	0	0	0	1	0	74	447				
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106.0	111.0	109.0					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		8	722	0	0	0	1	0	8	722				
FCGBP	8857	broad.mit.edu	37	19	40411753	40411753	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:40411753G>A	ENST00000221347.6	-	7	3882	c.3875C>T	c.(3874-3876)gCc>gTc	p.A1292V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1292	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.632																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(3874-3876)gCc>gTc		Fc fragment of IgG binding protein							52.0	51.0	51.0					19																	40411753		2202	4276	6478	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40411753G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.3875C>T	19.37:g.40411753G>A	ENSP00000221347:p.Ala1292Val						p.A1292V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		7	3882	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1292			VWFD 3.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.3875C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	7.754	0.704011	0.15172	.	.	ENSG00000090920	ENST00000221347	T	0.58210	0.35	4.54	2.2	0.27929	von Willebrand factor, type D domain (3);	0.888041	0.09493	N	0.794685	T	0.38026	0.1025	N	0.20445	0.575	0.09310	N	1	P	0.39352	0.669	B	0.38106	0.265	T	0.18272	-1.0342	10	0.38643	T	0.18	.	10.6724	0.45766	0.0:0.1341:0.7127:0.1532	.	1292	Q9Y6R7	FCGBP_HUMAN	V	1292	ENSP00000221347:A1292V	ENSP00000221347:A1292V	A	-	2	0	FCGBP	45103593	0.000000	0.05858	0.028000	0.17463	0.668000	0.39293	0.698000	0.25571	1.099000	0.41499	0.436000	0.28706	GCC		0.632	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		6	786	0	0	0	1	0	6	786				
DLGAP5	9787	broad.mit.edu	37	14	55618581	55618581	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:55618581C>T	ENST00000247191.2	-	17	2416	c.2200G>A	c.(2200-2202)Gca>Aca	p.A734T	DLGAP5_ENST00000395425.2_Missense_Mutation_p.A734T	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	734					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						ATATCATCTGCTACTCCACCA	0.358																																						ENST00000247191.2																			0				biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(2200-2202)Gca>Aca		discs, large (Drosophila) homolog-associated protein 5							91.0	85.0	87.0					14																	55618581		2203	4299	6502	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55618581C>T	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.2200G>A	14.37:g.55618581C>T	ENSP00000247191:p.Ala734Thr					DLGAP5_ENST00000395425.2_Missense_Mutation_p.A734T	p.A734T	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN			17	2416	-			734					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.2200G>A	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335122	0.24253	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.31510	1.49;1.49	4.08	0.0321	0.14174	.	1.039760	0.07679	N	0.936753	T	0.18215	0.0437	L	0.32530	0.975	0.09310	N	1	P;P	0.45126	0.851;0.851	B;B	0.37550	0.253;0.253	T	0.17930	-1.0353	10	0.66056	D	0.02	.	1.1514	0.01786	0.1548:0.4127:0.1513:0.2812	.	734;734	A8MTM6;Q15398	.;DLGP5_HUMAN	T	734	ENSP00000378815:A734T;ENSP00000247191:A734T	ENSP00000247191:A734T	A	-	1	0	DLGAP5	54688334	0.000000	0.05858	0.000000	0.03702	0.759000	0.43091	-1.321000	0.02697	-0.111000	0.12001	-0.857000	0.03018	GCA		0.358	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		24	221	0	0	0	1	0	24	221				
SPG11	80208	broad.mit.edu	37	15	44888457	44888457	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:44888457T>A	ENST00000261866.7	-	25	4274	c.4258A>T	c.(4258-4260)Agc>Tgc	p.S1420C	SPG11_ENST00000558319.1_Missense_Mutation_p.S1420C|SPG11_ENST00000535302.2_Missense_Mutation_p.S1420C|SPG11_ENST00000427534.2_Missense_Mutation_p.S1420C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1420					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACTTGATCGCTGTCCATTTTG	0.473																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(4258-4260)Agc>Tgc		spastic paraplegia 11 (autosomal recessive)							115.0	116.0	116.0					15																	44888457		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44888457T>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.4258A>T	15.37:g.44888457T>A	ENSP00000261866:p.Ser1420Cys					SPG11_ENST00000427534.2_Missense_Mutation_p.S1420C|SPG11_ENST00000558319.1_Missense_Mutation_p.S1420C|SPG11_ENST00000535302.2_Missense_Mutation_p.S1420C	p.S1420C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	25	4274	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1420					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.4258A>T	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	T	10.15	1.270572	0.23221	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.79033	-1.23;-1.23;-1.23	4.93	-0.24	0.13047	.	0.760869	0.12223	N	0.488178	T	0.74129	0.3676	L	0.47716	1.5	0.09310	N	1	B;D;D	0.55800	0.001;0.959;0.973	B;P;P	0.51999	0.001;0.687;0.513	T	0.63453	-0.6634	10	0.62326	D	0.03	.	4.7879	0.13234	0.1363:0.2567:0.0:0.607	.	1420;1420;1420	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	C	1420	ENSP00000261866:S1420C;ENSP00000445278:S1420C;ENSP00000396110:S1420C	ENSP00000261866:S1420C	S	-	1	0	SPG11	42675749	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.796000	0.26986	0.033000	0.15463	-0.333000	0.08304	AGC		0.473	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			44	493	0	0	0	1	0	44	493				
CCDC80	151887	broad.mit.edu	37	3	112324405	112324405	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:112324405C>T	ENST00000206423.3	-	8	3665	c.2712G>A	c.(2710-2712)gcG>gcA	p.A904A	CCDC80_ENST00000439685.2_Silent_p.A904A	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	904					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ACTGCTGAATCGCCATTTCCT	0.473																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(2710-2712)gcG>gcA		coiled-coil domain containing 80							124.0	102.0	109.0					3																	112324405		2203	4300	6503	SO:0001819	synonymous_variant	151887							g.chr3:112324405C>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2712G>A	3.37:g.112324405C>T						CCDC80_ENST00000439685.2_Silent_p.A904A	p.A904A	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			8	3665	-			904					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	ENST00000206423.3	37	c.2712G>A	CCDS2968.1																																																																																				0.473	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		33	232	0	0	0	1	0	33	232				
PCDHB6	56130	broad.mit.edu	37	5	140532201	140532201	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140532201G>A	ENST00000231136.1	+	1	2363	c.2363G>A	c.(2362-2364)cGg>cAg	p.R788Q	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R652Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	788					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCACCTCTCGGAATAGCTTC	0.418																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(2362-2364)cGg>cAg									74.0	83.0	80.0					5																	140532201		2202	4300	6502	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140532201G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2363G>A	5.37:g.140532201G>A	ENSP00000231136:p.Arg788Gln					PCDHB6_ENST00000543635.1_Missense_Mutation_p.R652Q	p.R788Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2363	+			788					B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.2363G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417419	0.25552	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.13196	2.61;2.61	4.71	-1.74	0.08056	.	.	.	.	.	T	0.10035	0.0246	L	0.39633	1.23	0.09310	N	1	B	0.22983	0.078	B	0.19148	0.024	T	0.30475	-0.9977	9	0.44086	T	0.13	.	6.4956	0.22140	0.2801:0.3536:0.3662:0.0	.	788	Q9Y5E3	PCDB6_HUMAN	Q	652;788	ENSP00000438466:R652Q;ENSP00000231136:R788Q	ENSP00000231136:R788Q	R	+	2	0	PCDHB6	140512385	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.899000	0.04101	-0.333000	0.08476	-1.660000	0.00751	CGG		0.418	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		21	220	0	0	0	1	0	21	220				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			6	201	1	0	0.0215528	1	0.0216858	6	201				
FOXI1	2299	broad.mit.edu	37	5	169533031	169533031	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:169533031G>C	ENST00000306268.6	+	1	131	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	FOXI1_ENST00000449804.2_Missense_Mutation_p.E24Q			Q12951	FOXI1_HUMAN	forkhead box I1	24	Pro-rich.				embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATCGGCCAGGAGCCCCCCGA	0.701									Pendred syndrome																													ENST00000449804.2																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(70-72)Gag>Cag		forkhead box I1							24.0	27.0	26.0					5																	169533031		2202	4298	6500	SO:0001583	missense	2299	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding	g.chr5:169533031G>C	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.70G>C	5.37:g.169533031G>C	ENSP00000304286:p.Glu24Gln					FOXI1_ENST00000306268.6_Missense_Mutation_p.E24Q	p.E24Q	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	115	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	24			Pro-rich.		Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	c.70G>C	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375475	0.82682	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.95137	-3.57;-3.62	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.96827	0.8964	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.96	D	0.97246	0.9894	10	0.56958	D	0.05	.	17.2157	0.86943	0.0:0.0:1.0:0.0	.	24;24	Q12951-2;Q12951	.;FOXI1_HUMAN	Q	24	ENSP00000304286:E24Q;ENSP00000415483:E24Q	ENSP00000304286:E24Q	E	+	1	0	FOXI1	169465609	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.655000	0.98512	2.056000	0.61249	0.491000	0.48974	GAG		0.701	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		10	122	0	0	0	1	0	10	122				
OAS2	4939	broad.mit.edu	37	12	113442853	113442853	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:113442853G>A	ENST00000342315.4	+	7	1508	c.1294G>A	c.(1294-1296)Gtc>Atc	p.V432I	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.V432I	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	432	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCACAAAATCGTCAAGGAAAT	0.507																																					Pancreas(199;709 2232 18410 33584 35052)	ENST00000392583.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1294-1296)Gtc>Atc		2'-5'-oligoadenylate synthetase 2, 69/71kDa							82.0	76.0	78.0					12																	113442853		2203	4300	6503	SO:0001583	missense	0				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113442853G>A	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1294G>A	12.37:g.113442853G>A	ENSP00000342278:p.Val432Ile					OAS2_ENST00000342315.4_Missense_Mutation_p.V432I|RP1-71H24.1_ENST00000552784.1_RNA	p.V432I	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN			7	1501	+			432			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.1294G>A	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	0.660	-0.806221	0.02819	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.07021	3.23;3.23	4.11	-6.58	0.01836	2-5-oligoadenylate synthetase, N-terminal (1);Nucleotidyl transferase domain (1);	1.058010	0.07534	N	0.912661	T	0.01387	0.0045	N	0.00303	-1.675	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.41538	-0.9503	10	0.02654	T	1	-21.0848	6.381	0.21533	0.2512:0.2993:0.4495:0.0	.	432;432	P29728;P29728-2	OAS2_HUMAN;.	I	432	ENSP00000342278:V432I;ENSP00000376362:V432I	ENSP00000342278:V432I	V	+	1	0	OAS2	111927236	0.018000	0.18449	0.000000	0.03702	0.006000	0.05464	0.038000	0.13862	-1.355000	0.02186	-0.312000	0.09012	GTC		0.507	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			23	141	0	0	0	1	0	23	141				
DNAH5	1767	broad.mit.edu	37	5	13766211	13766211	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:13766211G>A	ENST00000265104.4	-	59	10079	c.9975C>T	c.(9973-9975)tgC>tgT	p.C3325C	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3325	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCAGCAGTACGCAATCCATGA	0.517									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(9973-9975)tgC>tgT		dynein, axonemal, heavy chain 5							113.0	109.0	110.0					5																	13766211		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13766211G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9975C>T	5.37:g.13766211G>A						DNAH5_ENST00000504001.3_Intron	p.C3325C	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			59	10079	-	Lung NSC(4;0.00476)		3325			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.9975C>T	CCDS3882.1																																																																																				0.517	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		62	382	0	0	0	1	0	62	382				
TMC5	79838	broad.mit.edu	37	16	19498557	19498557	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:19498557C>T	ENST00000396229.2	+	17	3231	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W	TMC5_ENST00000219821.5_Missense_Mutation_p.R582W|TMC5_ENST00000542583.2_Missense_Mutation_p.R828W|TMC5_ENST00000564959.1_Missense_Mutation_p.R511W|TMC5_ENST00000561503.1_Missense_Mutation_p.R469W|TMC5_ENST00000381414.4_Missense_Mutation_p.R828W|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000541464.1_Missense_Mutation_p.R776W	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	828					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R828W(1)|p.R582W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAAAGCCTGGCGGGCCTCACA	0.567																																						ENST00000396229.2																			2	Substitution - Missense(2)	p.R828W(1)|p.R582W(1)	endometrium(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2482-2484)Cgg>Tgg		transmembrane channel-like 5							73.0	67.0	69.0					16																	19498557		2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19498557C>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2482C>T	16.37:g.19498557C>T	ENSP00000379531:p.Arg828Trp					TMC5_ENST00000541464.1_Missense_Mutation_p.R776W|TMC5_ENST00000219821.5_Missense_Mutation_p.R582W|TMC5_ENST00000542583.2_Missense_Mutation_p.R828W|TMC5_ENST00000381414.4_Missense_Mutation_p.R828W|TMC5_ENST00000564959.1_Missense_Mutation_p.R511W|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000561503.1_Missense_Mutation_p.R469W	p.R828W	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			17	3231	+			828					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.2482C>T	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187204	0.78789	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	5.72	3.68	0.42216	.	0.284410	0.37304	N	0.002141	D	0.85643	0.5744	M	0.92555	3.32	0.53005	D	0.99996	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;0.999;0.999	D	0.85936	0.1455	10	0.87932	D	0	-21.0866	9.0624	0.36442	0.4067:0.4586:0.1346:0.0	.	776;511;582;582;828;828	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	W	776;828;828;828;582;511	ENSP00000441227:R776W;ENSP00000370822:R828W;ENSP00000379531:R828W;ENSP00000446274:R828W;ENSP00000219821:R582W	ENSP00000219821:R582W	R	+	1	2	TMC5	19406058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.706000	0.47135	0.699000	0.31761	0.655000	0.94253	CGG		0.567	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		36	223	0	0	0	1	0	36	223				
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	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		9	72	1	0	2.68362e-12	1	2.76854e-12	9	72				
ZNF780A	284323	broad.mit.edu	37	19	40580666	40580666	+	Silent	SNP	T	T	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:40580666T>C	ENST00000595687.2	-	6	1892	c.1683A>G	c.(1681-1683)gaA>gaG	p.E561E	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Silent_p.E561E|ZNF780A_ENST00000455521.1_Silent_p.E562E|ZNF780A_ENST00000450241.2_Silent_p.E527E|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Silent_p.E562E	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	561					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCCCACATTCCTTACATT	0.388																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1579-1581)gaA>gaG		zinc finger protein 780A							130.0	132.0	131.0					19																	40580666		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580666T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1683A>G	19.37:g.40580666T>C						AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Silent_p.E561E|ZNF780A_ENST00000455521.1_Silent_p.E562E|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.E561E|ZNF780A_ENST00000594395.1_Silent_p.E562E	p.E527E			O75290	Z780A_HUMAN			6	1892	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		561					E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.1581A>G	CCDS33026.2																																																																																				0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		8	2157	0	0	0	1	0	8	2157				
PAPPA	5069	broad.mit.edu	37	9	119106961	119106961	+	Missense_Mutation	SNP	C	C	T	rs202058403		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:119106961C>T	ENST00000328252.3	+	14	4120	c.3751C>T	c.(3751-3753)Cgg>Tgg	p.R1251W	PAPPA_ENST00000534838.1_Missense_Mutation_p.R289W	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1251	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCTCCAGATACGGCGGGATGA	0.577																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(3751-3753)Cgg>Tgg		pregnancy-associated plasma protein A, pappalysin 1							74.0	62.0	66.0					9																	119106961		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119106961C>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3751C>T	9.37:g.119106961C>T	ENSP00000330658:p.Arg1251Trp					PAPPA_ENST00000534838.1_Missense_Mutation_p.R289W	p.R1251W	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			14	4120	+			1251			Sushi 1.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.3751C>T	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965637	0.74131	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.77098	-1.07;-1.07	5.36	5.36	0.76844	Complement control module (2);Sushi/SCR/CCP (2);	0.387664	0.31554	N	0.007450	T	0.64560	0.2609	N	0.14661	0.345	0.36488	D	0.868287	P;D	0.53151	0.927;0.958	B;B	0.39152	0.292;0.255	T	0.73639	-0.3919	10	0.46703	T	0.11	-8.643	19.4472	0.94852	0.0:1.0:0.0:0.0	.	289;1251	F5GZ19;Q13219	.;PAPP1_HUMAN	W	1251;289	ENSP00000330658:R1251W;ENSP00000441461:R289W	ENSP00000330658:R1251W	R	+	1	2	PAPPA	118146782	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.982000	0.76173	2.669000	0.90835	0.655000	0.94253	CGG		0.577	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		19	152	0	0	0	1	0	19	152				
GBP7	388646	broad.mit.edu	37	1	89599084	89599084	+	Missense_Mutation	SNP	G	G	C	rs79037912		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:89599084G>C	ENST00000294671.2	-	10	1657	c.1519C>G	c.(1519-1521)Caa>Gaa	p.Q507E		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	507						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q507E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TTCTGTTTTTGTCTTAGCAGC	0.458																																						ENST00000294671.2																			1	Substitution - Missense(1)	p.Q507E(1)	skin(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1519-1521)Caa>Gaa		guanylate binding protein 7							204.0	189.0	194.0					1																	89599084		2202	4300	6502	SO:0001583	missense	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89599084G>C	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1519C>G	1.37:g.89599084G>C	ENSP00000294671:p.Gln507Glu						p.Q507E	NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	10	1657	-		Lung NSC(277;0.0908)	507						Missense_Mutation	SNP	ENST00000294671.2	37	c.1519C>G	CCDS720.1	.	.	.	.	.	.	.	.	.	.	G	1.816	-0.473563	0.04445	.	.	ENSG00000213512	ENST00000294671	T	0.01725	4.67	3.6	2.66	0.31614	Guanylate-binding protein, C-terminal (3);	0.212783	0.40554	N	0.001075	T	0.00384	0.0012	N	0.17800	0.525	0.09310	N	1	B	0.20052	0.041	B	0.25405	0.06	T	0.47018	-0.9149	10	0.02654	T	1	.	9.0852	0.36577	0.0:0.2488:0.7512:0.0	.	507	Q8N8V2	GBP7_HUMAN	E	507	ENSP00000294671:Q507E	ENSP00000294671:Q507E	Q	-	1	0	GBP7	89371672	0.436000	0.25586	0.084000	0.20598	0.621000	0.37620	0.585000	0.23879	0.812000	0.34326	0.591000	0.81541	CAA		0.458	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		6	445	0	0	0	1	0	6	445				
CDH22	64405	broad.mit.edu	37	20	44839199	44839199	+	Splice_Site	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr20:44839199G>A	ENST00000372262.3	-	6	1433	c.1033C>T	c.(1033-1035)Cgc>Tgc	p.R345C	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Splice_Site_p.R345C	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	345	Cadherin 3. {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)				AAGTCCAGGCGCTGCGGGAGG	0.672																																						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.e6-1		cadherin 22, type 2							36.0	34.0	35.0					20																	44839199		2202	4299	6501	SO:0001630	splice_region_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44839199G>A	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.1033-1C>T	20.37:g.44839199G>A						CDH22_ENST00000537909.1_Splice_Site_p.R345_splice|CDH22_ENST00000474438.1_5'UTR	p.R345_splice	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			6	1433	-		Myeloproliferative disorder(115;0.0122)	345			Cadherin 3.		B9EGK7|O43205	Splice_Site	SNP	ENST00000372262.3	37	c.1032_splice	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603952	0.46423	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.54479	0.57;0.57	4.25	0.999	0.19862	Cadherin (5);Cadherin-like (1);	0.640659	0.15642	N	0.251802	T	0.42177	0.1191	L	0.59436	1.845	0.42300	D	0.992174	B	0.15473	0.013	B	0.10450	0.005	T	0.43491	-0.9388	10	0.87932	D	0	.	2.403	0.04406	0.1653:0.1518:0.5267:0.1562	.	345	Q9UJ99	CAD22_HUMAN	C	345	ENSP00000361336:R345C;ENSP00000437790:R345C	ENSP00000361336:R345C	R	-	1	0	CDH22	44272606	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	3.050000	0.49877	0.411000	0.25702	0.555000	0.69702	CGC		0.672	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248	Missense_Mutation	22	157	0	0	0	1	0	22	157				
CACNG3	10368	broad.mit.edu	37	16	24366270	24366270	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:24366270G>A	ENST00000005284.3	+	3	1614	c.412G>A	c.(412-414)Gcg>Acg	p.A138T		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	138					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.A138T(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CATTCTCAGCGCGGGCATCTT	0.572																																						ENST00000005284.3																			1	Substitution - Missense(1)	p.A138T(1)	large_intestine(1)	NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(412-414)Gcg>Acg		calcium channel, voltage-dependent, gamma subunit 3							58.0	53.0	55.0					16																	24366270		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24366270G>A	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.412G>A	16.37:g.24366270G>A	ENSP00000005284:p.Ala138Thr						p.A138T	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	3	1614	+			138						Missense_Mutation	SNP	ENST00000005284.3	37	c.412G>A	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	36	5.763234	0.96906	.	.	ENSG00000006116	ENST00000005284	D	0.89617	-2.54	5.41	5.41	0.78517	.	0.112679	0.64402	D	0.000015	D	0.91633	0.7356	M	0.82132	2.575	0.80722	D	1	P	0.51653	0.947	P	0.47827	0.558	D	0.91099	0.4913	10	0.39692	T	0.17	-12.7101	18.9864	0.92771	0.0:0.0:1.0:0.0	.	138	O60359	CCG3_HUMAN	T	138	ENSP00000005284:A138T	ENSP00000005284:A138T	A	+	1	0	CACNG3	24273771	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.961000	0.93122	2.815000	0.96918	0.561000	0.74099	GCG		0.572	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		38	201	0	0	0	1	0	38	201				
ARAP3	64411	broad.mit.edu	37	5	141051740	141051740	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:141051740G>A	ENST00000239440.4	-	10	1579	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V|ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	505	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCACAGTCCGCACACTGCCG	0.612																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(1513-1515)gCg>gTg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							137.0	136.0	136.0					5																	141051740		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141051740G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1514C>T	5.37:g.141051740G>A	ENSP00000239440:p.Ala505Val					ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V|ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V	p.A505V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			10	1579	-			505			Arf-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.1514C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142199	0.77775	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.51071	0.72;0.72;0.72	3.51	3.51	0.40186	.	0.151693	0.41500	U	0.000870	T	0.63640	0.2528	L	0.59436	1.845	0.51012	D	0.999906	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.941;0.99	T	0.68633	-0.5357	10	0.87932	D	0	.	13.9666	0.64213	0.0:0.0:1.0:0.0	.	167;427;505	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	V	427;505;167	ENSP00000421826:A427V;ENSP00000239440:A505V;ENSP00000421468:A167V	ENSP00000239440:A505V	A	-	2	0	ARAP3	141031924	1.000000	0.71417	0.976000	0.42696	0.538000	0.34931	9.611000	0.98342	1.789000	0.52484	0.563000	0.77884	GCG		0.612	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		9	966	0	0	0	1	0	9	966				
ATP11AUN	400165	broad.mit.edu	37	13	113333852	113333852	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:113333852G>A	ENST00000356049.1	+	2	917	c.159G>A	c.(157-159)ccG>ccA	p.P53P		NM_207440.1	NP_997323.1	Q6ZP68	ATPUN_HUMAN		53										breast(1)|lung(2)|ovary(1)|prostate(1)	5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)			ATGAGCCGCCGATCCGAGCTC	0.607																																						ENST00000356049.1																			0				breast(1)|lung(2)|ovary(1)|prostate(1)	5						c.(157-159)ccG>ccA		chromosome 13 open reading frame 35							36.0	40.0	38.0					13																	113333852		2203	4300	6503	SO:0001819	synonymous_variant	400165							g.chr13:113333852G>A																												ENST00000356049.1:c.159G>A	13.37:g.113333852G>A							p.P53P	NM_207440.1	NP_997323.1	Q6ZP68	CM035_HUMAN	all cancers(43;0.201)		2	917	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		53						Silent	SNP	ENST00000356049.1	37	c.159G>A	CCDS9526.1																																																																																				0.607	C13orf35-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000126522.2			6	183	0	0	0	1	0	6	183				
URI1	8725	broad.mit.edu	37	19	30500170	30500170	+	Silent	SNP	C	C	T	rs183923805		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:30500170C>T	ENST00000542441.2	+	8	1242	c.945C>T	c.(943-945)gaC>gaT	p.D315D	URI1_ENST00000312051.6_Silent_p.D275D|URI1_ENST00000392271.1_Silent_p.D239D|URI1_ENST00000360605.4_Silent_p.D297D			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	315	Poly-Asp.			D -> E (in Ref. 3; BAF84859). {ECO:0000305}.	cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										acattgacgacgatgatggtg	0.403													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21154	0.0		0.0	False		,,,				2504	0.0					ENST00000392271.1																			0											c.(715-717)gaC>gaT		URI1, prefoldin-like chaperone							102.0	85.0	91.0					19																	30500170		2202	4300	6502	SO:0001819	synonymous_variant	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30500170C>T	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.945C>T	19.37:g.30500170C>T						URI1_ENST00000542441.2_Silent_p.D315D|URI1_ENST00000312051.6_Silent_p.D275D|URI1_ENST00000360605.4_Silent_p.D297D	p.D239D	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN			8	1242	+			315					A8K805|H7BY42|Q8TC23|Q9UNU3	Silent	SNP	ENST00000542441.2	37	c.717C>T	CCDS12420.1																																																																																				0.403	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		15	322	0	0	0	1	0	15	322				
GOLGA3	2802	broad.mit.edu	37	12	133353241	133353241	+	Silent	SNP	T	T	C	rs541227756	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:133353241T>C	ENST00000450791.2	-	20	4140	c.3957A>G	c.(3955-3957)gaA>gaG	p.E1319E	GOLGA3_ENST00000204726.3_Silent_p.E1319E|GOLGA3_ENST00000456883.2_Silent_p.E1319E			Q08378	GOGA3_HUMAN	golgin A3	1319	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTGTAGCCCTTCCAGTTCCT	0.587													T|||	45	0.00898562	0.0212	0.0159	5008	,	,		20367	0.0		0.005	False		,,,				2504	0.001					ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3955-3957)gaA>gaG		golgin A3							90.0	83.0	85.0					12																	133353241		2203	4300	6503	SO:0001819	synonymous_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133353241T>C	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3957A>G	12.37:g.133353241T>C						GOLGA3_ENST00000450791.2_Silent_p.E1319E|GOLGA3_ENST00000456883.2_Silent_p.E1319E	p.E1319E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	21	4515	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1319			Gln-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	c.3957A>G	CCDS9281.1																																																																																				0.587	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		5	330	0	0	0	1	0	5	330				
UGT2B28	54490	broad.mit.edu	37	4	70152481	70152481	+	Silent	SNP	A	A	G	rs141618560	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr4:70152481A>G	ENST00000335568.5	+	3	884	c.882A>G	c.(880-882)gaA>gaG	p.E294E	UGT2B28_ENST00000511240.1_Silent_p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	294					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.E294E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						AAATGGAGGAATTTGTACAGA	0.393													a|||	49	0.00978435	0.0159	0.0043	5008	,	,		10804	0.004		0.005	False		,,,				2504	0.0164					ENST00000335568.5																			1	Substitution - coding silent(1)	p.E294E(1)	kidney(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(880-882)gaA>gaG		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)	G	,	12,4124		0,12,2056	125.0	143.0	138.0		882,882	-1.6	0.9	4	dbSNP_134	138	9,8499		0,9,4245	no	coding-synonymous,coding-synonymous	UGT2B28	NM_001207004.1,NM_053039.1	,	0,21,6301	GG,GA,AA		0.1058,0.2901,0.1661	,	294/336,294/530	70152481	21,12623	2068	4254	6322	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70152481A>G	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.882A>G	4.37:g.70152481A>G						UGT2B28_ENST00000511240.1_Silent_p.E294E	p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			3	884	+			294					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.882A>G	CCDS3528.1																																																																																				0.393	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		5	315	0	0	0	1	0	5	315				
MEN1	4221	broad.mit.edu	37	11	64572244	64572244	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:64572244G>A	ENST00000337652.1	-	10	1913	c.1410C>T	c.(1408-1410)gcC>gcT	p.A470A	MEN1_ENST00000443283.1_Silent_p.A470A|MEN1_ENST00000394376.1_Silent_p.A470A|MEN1_ENST00000478548.1_5'UTR|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000315422.4_Silent_p.A465A|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000394374.2_Silent_p.A470A|MEN1_ENST00000312049.6_Silent_p.A465A|MEN1_ENST00000377313.1_Silent_p.A470A|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000377321.1_Silent_p.A430A|MEN1_ENST00000377316.2_Silent_p.A410A|MEN1_ENST00000377326.3_Silent_p.A465A	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	470					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCTCGGCCTCGGCCGCCTCGG	0.726			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337	GRCh37	CD021425	MEN1	D		c.(1408-1410)gcC>gcT		multiple endocrine neoplasia I							21.0	24.0	23.0					11																	64572244		1817	3779	5596	SO:0001819	synonymous_variant	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64572244G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1410C>T	11.37:g.64572244G>A						MEN1_ENST00000394376.1_Silent_p.A470A|MEN1_ENST00000394374.2_Silent_p.A470A|MEN1_ENST00000377313.1_Silent_p.A470A|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377326.3_Silent_p.A465A|MEN1_ENST00000315422.4_Silent_p.A465A|MEN1_ENST00000377316.2_Silent_p.A410A|MEN1_ENST00000377321.1_Silent_p.A430A|MEN1_ENST00000443283.1_Silent_p.A470A|MEN1_ENST00000312049.6_Silent_p.A465A	p.A470A	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			10	1913	-			470					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000337652.1	37	c.1410C>T	CCDS8083.1																																																																																				0.726	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			27	174	0	0	0	1	0	27	174				
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092					ENST00000433992.1																			0				endometrium(1)	1																																														0							g.chr22:42538870A>C																													22.37:g.42538870A>C						CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA								0	475	-									RNA	SNP	ENST00000428786.1	37			30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			10	113	0	0	0	1	0	10	113				
GLI3	2737	broad.mit.edu	37	7	42017203	42017203	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:42017203T>G	ENST00000395925.3	-	12	1850	c.1766A>C	c.(1765-1767)aAt>aCt	p.N589T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	589					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATCAGAGGCATTTGAGAAAGC	0.468									Pallister-Hall syndrome;Greig Cephalopolysyndactyly		OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(1765-1767)aAt>aCt		GLI family zinc finger 3							239.0	196.0	211.0					7																	42017203		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42017203T>G		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1766A>C	7.37:g.42017203T>G	ENSP00000379258:p.Asn589Thr		OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	905	GLI3_ENST00000479210.1_5'UTR	p.N589T	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			12	1850	-			589					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.1766A>C	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.124654	0.77436	.	.	ENSG00000106571	ENST00000395925	T	0.16073	2.37	5.82	5.82	0.92795	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.27027	0.0662	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.15896	-1.0421	10	0.87932	D	0	.	16.1917	0.81992	0.0:0.0:0.0:1.0	.	589	P10071	GLI3_HUMAN	T	589	ENSP00000379258:N589T	ENSP00000379258:N589T	N	-	2	0	GLI3	41983728	1.000000	0.71417	0.453000	0.27007	0.623000	0.37688	7.991000	0.88244	2.216000	0.71823	0.533000	0.62120	AAT		0.468	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		6	182	0	0	0	1	0	6	182				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		16	204	0	0	0	1	0	16	204				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - coding silent(2)	p.V49V(2)	lung(1)|kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(145-147)gtG>gtC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V	p.V49V			P30443	1A01_HUMAN			4	488	+			49			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		6	205	0	0	0	1	0	6	205				
ALMS1	7840	broad.mit.edu	37	2	73677492	73677492	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:73677492G>A	ENST00000264448.6	+	8	3946	c.3835G>A	c.(3835-3837)Gct>Act	p.A1279T	ALMS1_ENST00000409009.1_Missense_Mutation_p.A1237T|ALMS1_ENST00000377715.1_Missense_Mutation_p.A1279T	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1279	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.A1279T(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGGCACACCAGCTGTAACCTC	0.433																																						ENST00000264448.6																			1	Substitution - Missense(1)	p.A1279T(1)	urinary_tract(1)	breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(3835-3837)Gct>Act		Alstrom syndrome 1							87.0	89.0	88.0					2																	73677492		1835	4091	5926	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73677492G>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3835G>A	2.37:g.73677492G>A	ENSP00000264448:p.Ala1279Thr					ALMS1_ENST00000377715.1_Missense_Mutation_p.A1279T|ALMS1_ENST00000409009.1_Missense_Mutation_p.A1237T	p.A1279T	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	3946	+			1279			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.3835G>A	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	0.138	-1.105576	0.01828	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.14893	3.37;3.37;2.47	4.44	-8.87	0.00792	.	.	.	.	.	T	0.02970	0.0088	N	0.01668	-0.77	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.27365	-1.0076	9	0.06757	T	0.87	.	0.6373	0.00804	0.1908:0.2119:0.2851:0.3122	.	1279;1237;1279	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	T	1237;1279;1279	ENSP00000386627:A1237T;ENSP00000264448:A1279T;ENSP00000366944:A1279T	ENSP00000264448:A1279T	A	+	1	0	ALMS1	73531000	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.877000	0.00344	-2.395000	0.00582	-1.298000	0.01336	GCT		0.433	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		7	510	0	0	0	1	0	7	510				
MUC17	140453	broad.mit.edu	37	7	100685064	100685064	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:100685064G>C	ENST00000306151.4	+	3	10431	c.10367G>C	c.(10366-10368)gGa>gCa	p.G3456A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3456	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTAGTGAAGGAAGCACTCCA	0.512																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10366-10368)gGa>gCa		mucin 17, cell surface associated							246.0	256.0	252.0					7																	100685064		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685064G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10367G>C	7.37:g.100685064G>C	ENSP00000302716:p.Gly3456Ala						p.G3456A	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10431	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3456			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10367G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	6.640	0.486509	0.12641	.	.	ENSG00000169876	ENST00000306151	T	0.01838	4.61	1.29	-0.0886	0.13672	.	.	.	.	.	T	0.03390	0.0098	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.77004	0.989	T	0.29822	-0.9999	9	0.05959	T	0.93	.	6.0054	0.19542	0.0:0.5593:0.4407:0.0	.	3456	Q685J3	MUC17_HUMAN	A	3456	ENSP00000302716:G3456A	ENSP00000302716:G3456A	G	+	2	0	MUC17	100471784	0.000000	0.05858	0.008000	0.14137	0.016000	0.09150	-3.212000	0.00555	0.661000	0.30985	0.186000	0.17326	GGA		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	1413	0	0	0	1	0	8	1413				
PRSS38	339501	broad.mit.edu	37	1	228004950	228004950	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:228004950G>A	ENST00000366757.3	+	3	376	c.352G>A	c.(352-354)Gta>Ata	p.V118I		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	118	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGTAGGCCTCGTAAACCTCAG	0.552																																						ENST00000366757.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(352-354)Gta>Ata		protease, serine, 38							141.0	115.0	124.0					1																	228004950		2203	4300	6503	SO:0001583	missense	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228004950G>A		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.352G>A	1.37:g.228004950G>A	ENSP00000355719:p.Val118Ile						p.V118I	NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN			3	376	+			118			Peptidase S1.		Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	c.352G>A	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	G	9.126	1.010207	0.19277	.	.	ENSG00000185888	ENST00000366757	D	0.88509	-2.39	4.23	-3.16	0.05217	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.107840	0.07072	N	0.835620	T	0.66197	0.2765	N	0.02181	-0.65	0.09310	N	1	P	0.44627	0.839	B	0.36719	0.231	T	0.62923	-0.6751	10	0.23302	T	0.38	.	5.8588	0.18734	0.5945:0.1533:0.2521:0.0	.	118	A1L453	PRS38_HUMAN	I	118	ENSP00000355719:V118I	ENSP00000355719:V118I	V	+	1	0	PRSS38	226071573	0.000000	0.05858	0.001000	0.08648	0.076000	0.17211	0.169000	0.16641	-0.633000	0.05545	0.655000	0.94253	GTA		0.552	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		33	248	0	0	0	1	0	33	248				
TOP2B	7155	broad.mit.edu	37	3	25641006	25641006	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:25641006C>A	ENST00000264331.4	-	35	4629	c.4630G>T	c.(4630-4632)Gca>Tca	p.A1544S	TOP2B_ENST00000542520.1_Missense_Mutation_p.A396S|TOP2B_ENST00000540199.1_Missense_Mutation_p.A396S|TOP2B_ENST00000435706.2_Missense_Mutation_p.A1539S	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1544					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CTTTTCTTTGCCCCTCGGCCT	0.383																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(4615-4617)Gca>Tca		topoisomerase (DNA) II beta 180kDa							179.0	159.0	165.0					3																	25641006		1835	4092	5927	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25641006C>A	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.4630G>T	3.37:g.25641006C>A	ENSP00000264331:p.Ala1544Ser					TOP2B_ENST00000264331.4_Missense_Mutation_p.A1544S|TOP2B_ENST00000542520.1_Missense_Mutation_p.A396S|TOP2B_ENST00000540199.1_Missense_Mutation_p.A396S	p.A1539S			Q02880	TOP2B_HUMAN			35	4816	-			1544					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.4615G>T		.	.	.	.	.	.	.	.	.	.	C	18.53	3.644022	0.67244	.	.	ENSG00000077097	ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199	T;T;T;T	0.47177	0.85;0.88;0.89;0.85	5.98	5.98	0.97165	DTHCT (1);	0.102593	0.64402	D	0.000002	T	0.35098	0.0920	N	0.08118	0	0.49389	D	0.999786	P;P	0.43231	0.801;0.763	P;B	0.46510	0.519;0.385	T	0.11941	-1.0567	10	0.05436	T	0.98	-16.4796	20.4561	0.99145	0.0:1.0:0.0:0.0	.	1544;1539	Q02880;Q02880-2	TOP2B_HUMAN;.	S	396;1539;1544;396	ENSP00000446023:A396S;ENSP00000396704:A1539S;ENSP00000264331:A1544S;ENSP00000437352:A396S	ENSP00000264331:A1544S	A	-	1	0	TOP2B	25616010	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.563000	0.53784	2.847000	0.97988	0.591000	0.81541	GCA		0.383	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				20	88	1	0	3.5997e-14	1	3.78549e-14	20	88				
ARHGAP18	93663	broad.mit.edu	37	6	129920398	129920398	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:129920398C>T	ENST00000368149.2	-	12	1764	c.1676G>A	c.(1675-1677)cGa>cAa	p.R559Q	ARHGAP18_ENST00000463225.1_5'Flank	NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		ATATTTTTCTCGGTCATAAGC	0.294																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(1675-1677)cGa>cAa		Rho GTPase activating protein 18							115.0	113.0	114.0					6																	129920398		2203	4299	6502	SO:0001583	missense	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129920398C>T	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.1676G>A	6.37:g.129920398C>T	ENSP00000357131:p.Arg559Gln						p.R559Q	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	12	1764	-			559						Missense_Mutation	SNP	ENST00000368149.2	37	c.1676G>A	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259937	0.80246	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.37	5.37	0.77165	.	0.062436	0.64402	D	0.000008	T	0.63861	0.2547	M	0.79258	2.445	0.44547	D	0.997506	P;D	0.61080	0.722;0.989	B;P	0.47376	0.117;0.545	T	0.68096	-0.5499	8	.	.	.	.	19.1474	0.93473	0.0:1.0:0.0:0.0	.	559;559	A9UK01;Q8N392	.;RHG18_HUMAN	Q	514;559	.	.	R	-	2	0	ARHGAP18	129962091	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.248000	0.65421	2.511000	0.84671	0.650000	0.86243	CGA		0.294	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		16	197	0	0	0	1	0	16	197				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2725-2727)aCt>aTt		OTU domain containing 4							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile					OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron	p.T909I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2863	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		6	566	0	0	0	1	0	6	566				
SMARCA2	6595	broad.mit.edu	37	9	2054681	2054681	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:2054681C>T	ENST00000382203.1	+	6	1340	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	SMARCA2_ENST00000357248.2_Silent_p.T377T|SMARCA2_ENST00000382194.1_Silent_p.T377T|SMARCA2_ENST00000349721.2_Silent_p.T377T			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	377					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCAAAGCAACCGTGGAACTAA	0.403																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1129-1131)acC>acT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							103.0	107.0	106.0					9																	2054681		2203	4300	6503	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2054681C>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1131C>T	9.37:g.2054681C>T						SMARCA2_ENST00000382194.1_Silent_p.T377T|SMARCA2_ENST00000349721.2_Silent_p.T377T|SMARCA2_ENST00000357248.2_Silent_p.T377T	p.T377T			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	6	1340	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	377					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.1131C>T	CCDS34977.1																																																																																				0.403	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		70	397	0	0	0	1	0	70	397				
CYP1A2	1544	broad.mit.edu	37	15	75042757	75042757	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:75042757C>T	ENST00000343932.4	+	2	741	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	226					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.F226F(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	CTCATGAGTTCGTGGAGACTG	0.572																																						ENST00000343932.4																			2	Substitution - coding silent(2)	p.F226F(2)	upper_aerodigestive_tract(1)|endometrium(1)	breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(676-678)ttC>ttT		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						239.0	211.0	221.0					15																	75042757		2197	4296	6493	SO:0001819	synonymous_variant	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75042757C>T	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.678C>T	15.37:g.75042757C>T							p.F226F	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			2	741	+			226					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	c.678C>T	CCDS32293.1																																																																																				0.572	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		102	634	0	0	0	1	0	102	634				
GDPGP1	390637	broad.mit.edu	37	15	90784172	90784172	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:90784172C>A	ENST00000558017.1	+	4	452	c.32C>A	c.(31-33)tCc>tAc	p.S11Y	GDPGP1_ENST00000329600.6_Missense_Mutation_p.S11Y	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	11					glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)	GDP-D-glucose phosphorylase activity (GO:0080048)|guanyl-nucleotide exchange factor activity (GO:0005085)|hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|nucleotidyltransferase activity (GO:0016779)										AACGAAACTTCCTATTTGCTG	0.453																																						ENST00000558017.1																			0											c.(31-33)tCc>tAc		GDP-D-glucose phosphorylase 1							93.0	95.0	94.0					15																	90784172		2199	4298	6497	SO:0001583	missense	390637				glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity	g.chr15:90784172C>A		CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 58"""	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.32C>A	15.37:g.90784172C>A	ENSP00000452793:p.Ser11Tyr					GDPGP1_ENST00000329600.6_Missense_Mutation_p.S11Y	p.S11Y	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN			4	452	+			11						Missense_Mutation	SNP	ENST00000558017.1	37	c.32C>A	CCDS32327.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.310950	0.40895	.	.	ENSG00000183208	ENST00000329600	T	0.25912	1.77	5.22	4.3	0.51218	.	0.240656	0.27495	N	0.019109	T	0.27098	0.0664	M	0.63428	1.95	0.28415	N	0.917998	B	0.15141	0.012	B	0.18871	0.023	T	0.23833	-1.0177	10	0.87932	D	0	-6.4776	9.8228	0.40894	0.0:0.9068:0.0:0.0932	.	11	Q6ZNW5	VTC2_HUMAN	Y	11	ENSP00000368405:S11Y	ENSP00000368405:S11Y	S	+	2	0	C15orf58	88585176	0.556000	0.26538	0.920000	0.36463	0.327000	0.28475	0.968000	0.29357	1.419000	0.47118	0.563000	0.77884	TCC		0.453	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1	NM_001013657		53	392	1	0	4.44712e-29	1	4.70702e-29	53	392				
KRTAP4-11	653240	broad.mit.edu	37	17	39274214	39274214	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr17:39274214G>C	ENST00000391413.2	-	1	392	c.354C>G	c.(352-354)agC>agG	p.S118R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	118	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					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)			gtctgcagcagctggacacac	0.652																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(352-354)agC>agG		keratin associated protein 4-11							4.0	8.0	7.0					17																	39274214		642	1521	2163	SO:0001583	missense	653240					keratin filament		g.chr17:39274214G>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.354C>G	17.37:g.39274214G>C	ENSP00000375232:p.Ser118Arg						p.S118R	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	392	-		Breast(137;0.000496)	118			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.354C>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	11.65	1.702454	0.30232	.	.	ENSG00000212721	ENST00000391413	T	0.01963	4.53	3.63	2.63	0.31362	.	.	.	.	.	T	0.05914	0.0154	M	0.92691	3.335	0.25757	N	0.984995	B	0.18166	0.026	B	0.19391	0.025	T	0.23013	-1.0200	9	0.37606	T	0.19	.	5.3088	0.15819	0.1185:0.2126:0.6689:0.0	.	118	Q9BYQ6	KR411_HUMAN	R	118	ENSP00000375232:S118R	ENSP00000375232:S118R	S	-	3	2	KRTAP4-11	36527740	0.000000	0.05858	0.722000	0.30670	0.015000	0.08874	0.147000	0.16202	0.630000	0.30394	-0.413000	0.06143	AGC		0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	173	0	0	0	1	0	4	173				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	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_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_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		23	185	0	0	0	1	0	23	185				
RP11-24M17.5	0	broad.mit.edu	37	15	76075521	76075521	+	RNA	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:76075521G>A	ENST00000395215.3	+	0	1161				RN7SL319P_ENST00000480656.2_RNA																							gagaggctgcgaaagcaggaa	0.607																																						ENST00000395215.3																			0																																																			0							g.chr15:76075521G>A																													15.37:g.76075521G>A														0	1161	+									RNA	SNP	ENST00000395215.3	37																																																																																						0.607	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			9	1069	0	0	0	1	0	9	1069				
CFLAR	8837	broad.mit.edu	37	2	201994665	201994665	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:201994665G>A	ENST00000309955.3	+	2	592	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	CFLAR_ENST00000440180.1_Missense_Mutation_p.R26Q|CFLAR_ENST00000494258.1_5'Flank|CFLAR_ENST00000423241.2_Missense_Mutation_p.R26Q|CFLAR_ENST00000457277.1_Missense_Mutation_p.R26Q|CFLAR_ENST00000341222.6_Missense_Mutation_p.R26Q|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000355558.4_Missense_Mutation_p.R26Q|CFLAR_ENST00000341582.6_Missense_Mutation_p.R26Q|CFLAR_ENST00000395148.2_Missense_Mutation_p.R26Q|CFLAR_ENST00000340870.5_Missense_Mutation_p.R26Q|CFLAR_ENST00000342795.5_Missense_Mutation_p.R26Q	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	26	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						TTTTTGTGCCGGGATGTTGCT	0.478																																					Pancreas(16;548 657 22190 32864 42338)	ENST00000395148.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						c.(76-78)cGg>cAg		CASP8 and FADD-like apoptosis regulator							207.0	199.0	201.0					2																	201994665		2203	4300	6503	SO:0001583	missense	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:201994665G>A	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.77G>A	2.37:g.201994665G>A	ENSP00000312455:p.Arg26Gln					CFLAR_ENST00000457277.1_Missense_Mutation_p.R26Q|CFLAR_ENST00000423241.2_Missense_Mutation_p.R26Q|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000355558.4_Missense_Mutation_p.R26Q|CFLAR_ENST00000440180.1_Missense_Mutation_p.R26Q|CFLAR_ENST00000309955.2_Missense_Mutation_p.R26Q|CFLAR_ENST00000340870.5_Missense_Mutation_p.R26Q|CFLAR_ENST00000342795.5_Missense_Mutation_p.R26Q|CFLAR_ENST00000341222.6_Missense_Mutation_p.R26Q|CFLAR_ENST00000341582.6_Missense_Mutation_p.R26Q	p.R26Q			O15519	CFLAR_HUMAN			2	289	+			26			DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	c.77G>A	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.755828	0.49362	.	.	ENSG00000003402	ENST00000309955;ENST00000341222;ENST00000355558;ENST00000340870;ENST00000341582;ENST00000342795;ENST00000395148;ENST00000441224;ENST00000433445;ENST00000423241;ENST00000425030;ENST00000417748;ENST00000440180;ENST00000457277	T;T;T;T;T;T;T;T;T	0.48201	3.7;0.83;0.82;3.58;4.0;0.86;3.7;0.83;3.58	5.86	4.05	0.47172	DEATH-like (2);Death effector (3);	0.487974	0.22753	N	0.056053	T	0.56543	0.1992	L	0.60957	1.885	0.40149	D	0.976923	P;D;D;D;P;P;B	0.76494	0.956;0.998;0.998;0.999;0.744;0.777;0.449	P;P;P;D;B;B;B	0.65874	0.67;0.9;0.842;0.939;0.249;0.23;0.274	T	0.53690	-0.8403	10	0.27082	T	0.32	-12.9446	6.6207	0.22802	0.146:0.0:0.7082:0.1458	.	26;26;26;26;26;26;26	C9JK38;O15519-11;O15519-8;O15519;O15519-12;O15519-2;E9PAP3	.;.;.;CFLAR_HUMAN;.;.;.	Q	26	ENSP00000312455:R26Q;ENSP00000339335:R26Q;ENSP00000347757:R26Q;ENSP00000339326:R26Q;ENSP00000345807:R26Q;ENSP00000342809:R26Q;ENSP00000399420:R26Q;ENSP00000406775:R26Q;ENSP00000411535:R26Q	ENSP00000312455:R26Q	R	+	2	0	CFLAR	201702910	1.000000	0.71417	0.918000	0.36340	0.539000	0.34962	3.319000	0.51983	0.805000	0.34159	0.563000	0.77884	CGG		0.478	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		6	714	0	0	0	1	0	6	714				
EPHB2	2048	broad.mit.edu	37	1	23239043	23239043	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:23239043G>A	ENST00000400191.3	+	15	2821	c.2803G>A	c.(2803-2805)Gcc>Acc	p.A935T	EPHB2_ENST00000374632.3_Missense_Mutation_p.A936T|EPHB2_ENST00000374627.1_Missense_Mutation_p.A930T|EPHB2_ENST00000374630.3_Missense_Mutation_p.A935T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	935	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GGAGAGCTTCGCCAATGCCGG	0.592																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(2803-2805)Gcc>Acc		EPH receptor B2							135.0	133.0	133.0					1																	23239043		2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23239043G>A	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2803G>A	1.37:g.23239043G>A	ENSP00000383053:p.Ala935Thr					EPHB2_ENST00000374627.1_Missense_Mutation_p.A930T|EPHB2_ENST00000374632.3_Missense_Mutation_p.A936T|EPHB2_ENST00000374630.3_Missense_Mutation_p.A935T	p.A935T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	15	2821	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	935			SAM.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.2803G>A		.	.	.	.	.	.	.	.	.	.	G	3.400	-0.122403	0.06795	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.06608	3.28;3.28;3.28;3.28	4.78	3.85	0.44370	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.066497	0.64402	N	0.000012	T	0.04227	0.0117	L	0.31664	0.95	0.80722	D	1	B;B;B;B	0.17852	0.006;0.024;0.013;0.006	B;B;B;B	0.21708	0.0;0.036;0.014;0.005	T	0.20571	-1.0271	10	0.02654	T	1	.	8.4227	0.32710	0.0846:0.1545:0.7609:0.0	.	877;935;953;936	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	T	877;935;935;936;930	ENSP00000363761:A935T;ENSP00000383053:A935T;ENSP00000363763:A936T;ENSP00000363758:A930T	ENSP00000363755:A877T	A	+	1	0	EPHB2	23111630	1.000000	0.71417	0.999000	0.59377	0.796000	0.44982	3.149000	0.50655	1.361000	0.45981	0.650000	0.86243	GCC		0.592	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		30	259	0	0	0	1	0	30	259				
UBB	7314	broad.mit.edu	37	17	16285788	16285788	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr17:16285788C>T	ENST00000395837.1	+	2	748	c.567C>T	c.(565-567)ccC>ccT	p.P189P	UBB_ENST00000302182.3_Silent_p.P189P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Silent_p.P113P	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	189	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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 initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.P189P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCCCCCGACCAGC	0.552																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			1	Substitution - coding silent(1)	p.P189P(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(565-567)ccC>ccT		ubiquitin B							55.0	59.0	58.0					17																	16285788		2203	4297	6500	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285788C>T		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.567C>T	17.37:g.16285788C>T						UBB_ENST00000395837.1_Silent_p.P189P|UBB_ENST00000535788.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000578649.1_3'UTR|RP11-138I1.4_ENST00000583934.1_RNA	p.P189P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	959	+			189			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.567C>T	CCDS11177.1																																																																																				0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		5	274	0	0	0	1	0	5	274				
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342186T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342186T>C														0	1967	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.498	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		5	60	0	0	0	1	0	5	60				
TENM4	26011	broad.mit.edu	37	11	78380090	78380090	+	Missense_Mutation	SNP	C	C	T	rs201676053		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:78380090C>T	ENST00000278550.7	-	32	7762	c.7300G>A	c.(7300-7302)Gag>Aag	p.E2434K		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2434					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TTCCACAGCTCGTGGTCTGGG	0.517																																						ENST00000278550.7																			0											c.(7300-7302)Gag>Aag		teneurin transmembrane protein 4		C	LYS/GLU	1,4109		0,1,2054	113.0	112.0	113.0		7300	5.1	1.0	11		113	2,8366		0,2,4182	yes	missense	ODZ4	NM_001098816.2	56	0,3,6236	TT,TC,CC		0.0239,0.0243,0.024	benign	2434/2770	78380090	3,12475	2055	4184	6239	SO:0001583	missense	26011							g.chr11:78380090C>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7300G>A	11.37:g.78380090C>T	ENSP00000278550:p.Glu2434Lys						p.E2434K	NM_001098816.2	NP_001092286.2					32	7762	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.7300G>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272619	0.59649	2.43E-4	2.39E-4	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89681	-2.55;0.91	5.14	5.14	0.70334	Rhs repeat-associated core (1);	0.158206	0.53938	D	0.000042	D	0.83257	0.5215	L	0.45581	1.43	0.54753	D	0.999985	P	0.36483	0.555	B	0.16289	0.015	T	0.82388	-0.0482	9	.	.	.	.	18.8078	0.92045	0.0:1.0:0.0:0.0	.	2434	Q6N022	TEN4_HUMAN	K	2434;898	ENSP00000278550:E2434K;ENSP00000431711:E898K	.	E	-	1	0	ODZ4	78057738	0.976000	0.34144	0.988000	0.46212	0.972000	0.66771	3.189000	0.50965	2.677000	0.91161	0.655000	0.94253	GAG		0.517	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			13	160	0	0	0	1	0	13	160				
NME9	347736	broad.mit.edu	37	3	138022470	138022470	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:138022470G>A	ENST00000333911.3	-	10	834	c.807C>T	c.(805-807)taC>taT	p.Y269Y	NME9_ENST00000383180.2_Silent_p.Y208Y|NME9_ENST00000536478.1_Silent_p.Y208Y|NME9_ENST00000341790.5_Silent_p.Y206Y|NME9_ENST00000317876.4_Silent_p.Y208Y|NME9_ENST00000484930.1_Silent_p.Y206Y			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	269	NDK.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.Y208Y(1)									TTTCTGTGCCGTACTGAGCTC	0.438																																						ENST00000383180.2																			1	Substitution - coding silent(1)	p.Y208Y(1)	pancreas(1)								c.(622-624)taC>taT		NME/NM23 family member 9							68.0	65.0	66.0					3																	138022470		2203	4300	6503	SO:0001819	synonymous_variant	347736				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr3:138022470G>A	AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"""thioredoxin domain containing 6"", ""NME gene family member 9"", ""NME family member 9"""	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.807C>T	3.37:g.138022470G>A						NME9_ENST00000341790.5_Silent_p.Y206Y|NME9_ENST00000317876.4_Silent_p.Y208Y|NME9_ENST00000536478.1_Silent_p.Y208Y|NME9_ENST00000484930.1_Silent_p.Y206Y|NME9_ENST00000333911.3_Silent_p.Y269Y	p.Y208Y	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN			11	861	-			269			NDK.		Q7Z4A8|Q8N1V7	Silent	SNP	ENST00000333911.3	37	c.624C>T		.	.	.	.	.	.	.	.	.	.	G	10.32	1.318117	0.23994	.	.	ENSG00000181322	ENST00000474690	.	.	.	5.73	-10.1	0.00402	.	.	.	.	.	T	0.62036	0.2395	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.73886	-0.3841	4	.	.	.	-7.3005	17.1751	0.86839	0.7831:0.0:0.2169:0.0	.	.	.	.	M	148	.	.	T	-	2	0	TXNDC6	139505160	0.035000	0.19736	0.223000	0.23860	0.270000	0.26580	-1.453000	0.02383	-2.438000	0.00552	-0.954000	0.02651	ACG		0.438	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1	NM_178130		5	208	0	0	0	1	0	5	208				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			0							g.chr3:197348646T>C																													3.37:g.197348646T>C								NR_003266.2						0	613	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.532	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			11	293	0	0	0	1	0	11	293				
FGF13	2258	broad.mit.edu	37	X	137715118	137715118	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chrX:137715118C>T	ENST00000315930.6	-	5	1292	c.631G>A	c.(631-633)Gat>Aat	p.D211N	FGF13_ENST00000305414.4_Missense_Mutation_p.D158N|FGF13_ENST00000370603.3_Missense_Mutation_p.D221N|FGF13_ENST00000441825.2_Missense_Mutation_p.D192N|FGF13_ENST00000541469.1_Missense_Mutation_p.D165N	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	211					cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TCCGTGAGATCGTGCAGTGAT	0.483																																						ENST00000315930.6																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24						c.(631-633)Gat>Aat		fibroblast growth factor 13							128.0	100.0	110.0					X																	137715118		2203	4300	6503	SO:0001583	missense	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137715118C>T	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.631G>A	X.37:g.137715118C>T	ENSP00000322390:p.Asp211Asn					FGF13_ENST00000305414.4_Missense_Mutation_p.D158N|FGF13_ENST00000541469.1_Missense_Mutation_p.D165N|FGF13_ENST00000441825.2_Missense_Mutation_p.D192N|FGF13_ENST00000370603.3_Missense_Mutation_p.D221N	p.D211N	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN			5	1292	-	Acute lymphoblastic leukemia(192;0.000127)		211					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000315930.6	37	c.631G>A	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350265	0.61183	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469;ENST00000436198	T;T;T;T;T;D	0.81739	-0.21;-0.21;-0.21;-0.21;-0.21;-1.53	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.73613	0.3609	L	0.38175	1.15	0.80722	D	1	B;B;B;B	0.29936	0.114;0.262;0.182;0.23	B;B;B;B	0.20184	0.012;0.018;0.028;0.019	T	0.71126	-0.4683	10	0.44086	T	0.13	.	18.0496	0.89343	0.0:1.0:0.0:0.0	.	165;221;158;211	B7Z8N0;B7Z4M7;Q92913-2;Q92913	.;.;.;FGF13_HUMAN	N	211;158;192;221;165;221	ENSP00000322390:D211N;ENSP00000303391:D158N;ENSP00000409276:D192N;ENSP00000359635:D221N;ENSP00000437903:D165N;ENSP00000396198:D221N	ENSP00000303391:D158N	D	-	1	0	FGF13	137542784	1.000000	0.71417	0.982000	0.44146	0.920000	0.55202	7.487000	0.81328	2.485000	0.83878	0.600000	0.82982	GAT		0.483	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		48	174	0	0	0	1	0	48	174				
SURF2	6835	broad.mit.edu	37	9	136227975	136227975	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:136227975G>A	ENST00000371964.4	+	6	772	c.731G>A	c.(730-732)cGc>cAc	p.R244H	SURF4_ENST00000467910.1_5'Flank	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	244						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		AGTCATCACCGCAAACCCAAG	0.463																																						ENST00000371964.4																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(730-732)cGc>cAc		surfeit 2							166.0	169.0	168.0					9																	136227975		2203	4300	6503	SO:0001583	missense	6835						protein binding	g.chr9:136227975G>A		CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"""surfeit locus protein 2"""	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.731G>A	9.37:g.136227975G>A	ENSP00000361032:p.Arg244His						p.R244H	NM_017503.3	NP_059973.3	Q15527	SURF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)	6	772	+			244					Q6IBP9|Q96CD1	Missense_Mutation	SNP	ENST00000371964.4	37	c.731G>A	CCDS6967.1	.	.	.	.	.	.	.	.	.	.	G	0.927	-0.713895	0.03206	.	.	ENSG00000148291	ENST00000371964	T	0.29917	1.55	5.15	0.0952	0.14484	.	0.911277	0.09659	N	0.772669	T	0.18173	0.0436	N	0.22421	0.69	0.09310	N	1	B	0.18310	0.027	B	0.17722	0.019	T	0.35674	-0.9779	10	0.12103	T	0.63	-18.6517	9.3417	0.38085	0.4709:0.0:0.5291:0.0	.	244	Q15527	SURF2_HUMAN	H	244	ENSP00000361032:R244H	ENSP00000361032:R244H	R	+	2	0	SURF2	135217796	0.001000	0.12720	0.000000	0.03702	0.095000	0.18619	0.233000	0.17911	-0.274000	0.09232	0.561000	0.74099	CGC		0.463	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054883.1	NM_017503		6	930	0	0	0	1	0	6	930				
TUBB8	347688	broad.mit.edu	37	10	93797	93797	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:93797C>T	ENST00000309812.4	-	4	597	c.535G>A	c.(535-537)Gtg>Atg	p.V179M	TUBB8_ENST00000447903.2_Missense_Mutation_p.V107M|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	179					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GGCTCCACCACGGTGTCCGAC	0.522																																					Pancreas(192;2041 3010 9013 18103)	ENST00000447903.2																			0				NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(319-321)Gtg>Atg		tubulin, beta 8 class VIII																																				SO:0001583	missense	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93797C>T	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.535G>A	10.37:g.93797C>T	ENSP00000311042:p.Val179Met					TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.V179M|TUBB8_ENST00000413237.3_5'UTR	p.V107M			Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	634	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	179					Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	c.319G>A	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941317	0.34283	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.71222	-0.55	.	.	.	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.51477	U	0.000086	D	0.85080	0.5615	H	0.96489	3.83	0.34080	D	0.659493	P;D	0.89917	0.478;1.0	B;D	0.69479	0.038;0.964	D	0.85106	0.0960	9	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	142;179	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	M	107;145;142;179	ENSP00000403895:V107M	ENSP00000272035:V145M	V	-	1	0	RP11-631M21.2	83797	0.998000	0.40836	0.272000	0.24630	0.274000	0.26718	5.268000	0.65536	0.119000	0.18210	0.121000	0.15741	GTG		0.522	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		5	504	0	0	0	1	0	5	504				
CR2	1380	broad.mit.edu	37	1	207640107	207640107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:207640107G>A	ENST00000367058.3	+	2	484	c.295G>A	c.(295-297)Gga>Aga	p.G99R	CR2_ENST00000367059.3_Missense_Mutation_p.G99R|CR2_ENST00000458541.2_Missense_Mutation_p.G99R|CR2_ENST00000367057.3_Missense_Mutation_p.G99R	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	99	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.G99*(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGTACCAGGAGGATACAAAAT	0.408																																						ENST00000367057.3																			1	Substitution - Nonsense(1)	p.G99*(1)	ovary(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(295-297)Gga>Aga		complement component (3d/Epstein Barr virus) receptor 2							96.0	94.0	95.0					1																	207640107		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207640107G>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.295G>A	1.37:g.207640107G>A	ENSP00000356025:p.Gly99Arg					CR2_ENST00000458541.2_Missense_Mutation_p.G99R|CR2_ENST00000367059.3_Missense_Mutation_p.G99R|CR2_ENST00000367058.3_Missense_Mutation_p.G99R	p.G99R	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			2	484	+			99			Sushi 2.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.295G>A	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458973	0.63401	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.0	4.01	0.46588	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.82287	0.5004	M	0.91140	3.18	0.30549	N	0.765697	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.77864	-0.2429	9	0.37606	T	0.19	.	7.4734	0.27361	0.117:0.0:0.883:0.0	.	99;99;99	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	R	99	ENSP00000356025:G99R;ENSP00000356024:G99R;ENSP00000356026:G99R;ENSP00000404222:G99R	ENSP00000356024:G99R	G	+	1	0	CR2	205706730	0.570000	0.26651	0.867000	0.34043	0.013000	0.08279	2.467000	0.45093	2.607000	0.88179	0.655000	0.94253	GGA		0.408	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		47	319	0	0	0	1	0	47	319				
PCLO	27445	broad.mit.edu	37	7	82791717	82791717	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:82791717C>T	ENST00000333891.9	-	1	529	c.192G>A	c.(190-192)caG>caA	p.Q64Q	PCLO_ENST00000423517.2_Silent_p.Q64Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGGCAGCCCCTGCGCCCTTG	0.632																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(190-192)caG>caA		piccolo presynaptic cytomatrix protein							19.0	24.0	23.0					7																	82791717		2108	4216	6324	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82791717C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.192G>A	7.37:g.82791717C>T						PCLO_ENST00000333891.8_Silent_p.Q64Q	p.Q64Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			1	529	-			64						Silent	SNP	ENST00000333891.9	37	c.192G>A	CCDS47630.1																																																																																				0.632	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		12	51	0	0	0	1	0	12	51				
GOLGA3	2802	broad.mit.edu	37	12	133353247	133353247	+	Silent	SNP	T	T	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:133353247T>C	ENST00000450791.2	-	20	4134	c.3951A>G	c.(3949-3951)gaA>gaG	p.E1317E	GOLGA3_ENST00000204726.3_Silent_p.E1317E|GOLGA3_ENST00000456883.2_Silent_p.E1317E			Q08378	GOGA3_HUMAN	golgin A3	1317	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCCTTCCAGTTCCTTCCTGC	0.567																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3949-3951)gaA>gaG		golgin A3							93.0	85.0	88.0					12																	133353247		2203	4300	6503	SO:0001819	synonymous_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133353247T>C	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3951A>G	12.37:g.133353247T>C						GOLGA3_ENST00000450791.2_Silent_p.E1317E|GOLGA3_ENST00000456883.2_Silent_p.E1317E	p.E1317E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	21	4509	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1317			Gln-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	c.3951A>G	CCDS9281.1																																																																																				0.567	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		6	347	0	0	0	1	0	6	347				
OR5A1	219982	broad.mit.edu	37	11	59211157	59211157	+	Silent	SNP	C	C	T	rs150991894	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:59211157C>T	ENST00000302030.2	+	1	541	c.516C>T	c.(514-516)tgC>tgT	p.C172C		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C172C(2)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TTCACTTTTGCGGACCCAACA	0.547																																						ENST00000302030.2																			2	Substitution - coding silent(2)	p.C172C(2)	prostate(1)|endometrium(1)	central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(514-516)tgC>tgT		olfactory receptor, family 5, subfamily A, member 1		C		0,4402		0,0,2201	261.0	254.0	256.0		516	-5.9	0.4	11	dbSNP_134	256	3,8587	3.0+/-9.4	0,3,4292	no	coding-synonymous	OR5A1	NM_001004728.1		0,3,6493	TT,TC,CC		0.0349,0.0,0.0231		172/316	59211157	3,12989	2201	4295	6496	SO:0001819	synonymous_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211157C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.516C>T	11.37:g.59211157C>T							p.C172C	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	541	+			172					B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	c.516C>T	CCDS31561.1																																																																																				0.547	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		8	1148	0	0	0	1	0	8	1148				
LCN1	3933	broad.mit.edu	37	9	138413373	138413373	+	Silent	SNP	T	T	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:138413373T>C	ENST00000263598.2	+	1	90	c.30T>C	c.(28-30)ctT>ctC	p.L10L	LCN1_ENST00000371781.3_Silent_p.L10L	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	10					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.L10L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		CCGTCAGCCTTGGCCTCATTG	0.667																																						ENST00000263598.2																			2	Substitution - coding silent(2)	p.L10L(2)	large_intestine(1)|endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13						c.(28-30)ctT>ctC		lipocalin 1																																				SO:0001819	synonymous_variant	3933				proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	g.chr9:138413373T>C		CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"""Lipocalins"""	6525	protein-coding gene	gene with protein product	"""Von Ebner gland protein"", ""tear lipocalin"", ""lipocalin 1-like 2"", ""tear prealbumin"""	151675	"""lipocalin 1 (protein migrating faster than albumin, tear prealbumin)"", ""lipocalin 1 (tear prealbumin)"""			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.30T>C	9.37:g.138413373T>C						LCN1_ENST00000371781.3_Silent_p.L10L	p.L10L	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)	1	90	+		Myeloproliferative disorder(178;0.0511)	10					Q5T8A1	Silent	SNP	ENST00000263598.2	37	c.30T>C	CCDS6991.1																																																																																				0.667	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297		6	150	0	0	0	1	0	6	150				
GSAP	54103	broad.mit.edu	37	7	77004376	77004376	+	Splice_Site	SNP	T	T	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:77004376T>C	ENST00000257626.7	-	11	862	c.784A>G	c.(784-786)Aaa>Gaa	p.K262E		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	262					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										ATAACTTACTTAAATCCTGAG	0.289																																						ENST00000257626.7																			0											c.e11+1		gamma-secretase activating protein							72.0	70.0	70.0					7																	77004376		2201	4299	6500	SO:0001630	splice_region_variant	54103							g.chr7:77004376T>C		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.785+1A>G	7.37:g.77004376T>C							p.K262_splice	NM_017439.3	NP_059135.2					11	862	-								A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Splice_Site	SNP	ENST00000257626.7	37	c.785_splice	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	T	12.83	2.056330	0.36277	.	.	ENSG00000186088	ENST00000257626	T	0.20738	2.05	5.73	4.57	0.56435	.	1.115770	0.06881	N	0.802583	T	0.18045	0.0433	L	0.29908	0.895	0.80722	D	1	B;B	0.17667	0.023;0.005	B;B	0.16722	0.016;0.004	T	0.03017	-1.1082	10	0.33940	T	0.23	.	8.604	0.33762	0.0:0.0871:0.0:0.9129	.	262;262	A4D1B5-3;A4D1B5	.;GSAP_HUMAN	E	262	ENSP00000257626:K262E	ENSP00000257626:K262E	K	-	1	0	PION	76842312	1.000000	0.71417	0.998000	0.56505	0.625000	0.37756	2.244000	0.43124	0.995000	0.38917	0.460000	0.39030	AAA		0.289	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439	Missense_Mutation	4	261	0	0	0	1	0	4	261				
GOLGA6L7P	728310	broad.mit.edu	37	15	29092257	29092257	+	RNA	SNP	C	C	T	rs75388271		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:29092257C>T	ENST00000569815.1	-	0	258					NR_047567.1				golgin A6 family-like 7, pseudogene																		TCAGGGTTAGCGCCATGATTT	0.547																																						ENST00000569815.1																			0																																																			0							g.chr15:29092257C>T	AK302238		15q13.1	2012-10-05	2011-04-15	2010-04-20	ENSG00000261649	ENSG00000261649			37442	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene)"""	GOLGA6L7			Standard	NR_047567		Approved		uc010uar.2		OTTHUMG00000176345		15.37:g.29092257C>T								NR_047567.1						0	258	-									RNA	SNP	ENST00000569815.1	37																																																																																						0.547	GOLGA6L7P-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000431796.1	XR_078490		7	140	0	0	0	1	0	7	140				
KCNB2	9312	broad.mit.edu	37	8	73848876	73848876	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:73848876G>A	ENST00000523207.1	+	3	1874	c.1286G>A	c.(1285-1287)cGc>cAc	p.R429H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	429					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GAGCAGAAACGCCAAGAGAAA	0.443																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1285-1287)cGc>cAc		potassium voltage-gated channel, Shab-related subfamily, member 2							60.0	64.0	63.0					8																	73848876		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848876G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1286G>A	8.37:g.73848876G>A	ENSP00000430846:p.Arg429His						p.R429H	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1874	+	Breast(64;0.137)		429					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1286G>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405528	0.83230	.	.	ENSG00000182674	ENST00000523207	D	0.97553	-4.43	5.61	5.61	0.85477	.	0.000000	0.46442	D	0.000294	D	0.98264	0.9425	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.99174	1.0865	10	0.87932	D	0	.	19.6254	0.95676	0.0:0.0:1.0:0.0	.	429	Q92953	KCNB2_HUMAN	H	429	ENSP00000430846:R429H	ENSP00000430846:R429H	R	+	2	0	KCNB2	74011430	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.633000	0.89246	0.563000	0.77884	CGC		0.443	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		40	262	0	0	0	1	0	40	262				
TYW1B	441250	broad.mit.edu	37	7	72209576	72209576	+	RNA	SNP	C	C	G			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:72209576C>G	ENST00000435769.2	-	0	1089				TYW1B_ENST00000438904.2_RNA|TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										CTCGGAGCATCGACTATGACA	0.413																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							233.0	179.0	195.0					7																	72209576		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72209576C>G	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72209576C>G										Q6NUM6	TYW1B_HUMAN			0	579	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.413	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		4	304	0	0	0	1	0	4	304				
KRTAP12-3	386683	broad.mit.edu	37	21	46078062	46078062	+	Missense_Mutation	SNP	G	G	A	rs201241084		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr21:46078062G>A	ENST00000397907.1	+	1	214	c.166G>A	c.(166-168)Gtg>Atg	p.V56M	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	56	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CTCCGTGTGCGTGCCCGTGAG	0.642																																						ENST00000397907.1																			0				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(166-168)Gtg>Atg		keratin associated protein 12-3							91.0	103.0	99.0					21																	46078062		2179	4268	6447	SO:0001583	missense	386683					intermediate filament		g.chr21:46078062G>A	AB076361	CCDS42964.1	21q22.3	2006-03-13			ENSG00000205439	ENSG00000205439		"""Keratin associated proteins"""	20531	protein-coding gene	gene with protein product							Standard	NM_198697		Approved	KRTAP12.3	uc002zft.3	P60328	OTTHUMG00000057630	ENST00000397907.1:c.166G>A	21.37:g.46078062G>A	ENSP00000381005:p.Val56Met					TSPEAR_ENST00000323084.4_Intron	p.V56M	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN			1	214	+			56			14 X 5 AA approximate repeats.			Missense_Mutation	SNP	ENST00000397907.1	37	c.166G>A	CCDS42964.1	.	.	.	.	.	.	.	.	.	.	g	9.432	1.085873	0.20390	.	.	ENSG00000205439	ENST00000397907	T	0.08546	3.08	4.25	-2.92	0.05615	.	.	.	.	.	T	0.04588	0.0125	.	.	.	0.09310	N	1	P	0.34587	0.458	B	0.22880	0.042	T	0.33599	-0.9862	8	0.45353	T	0.12	.	8.1305	0.31024	0.1538:0.4843:0.3619:0.0	.	56	P60328	KR123_HUMAN	M	56	ENSP00000381005:V56M	ENSP00000381005:V56M	V	+	1	0	KRTAP12-3	44902490	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.847000	0.01675	-0.473000	0.06871	-0.691000	0.03719	GTG		0.642	KRTAP12-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128033.1			53	384	0	0	0	1	0	53	384				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		6	168	0	0	0	1	0	6	168				
HYDIN	54768	broad.mit.edu	37	16	70841641	70841641	+	Missense_Mutation	SNP	G	G	A	rs577654275	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:70841641G>A	ENST00000393567.2	-	86	15358	c.15208C>T	c.(15208-15210)Cgg>Tgg	p.R5070W		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5070					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTTGGGCCGCACAGACTCT	0.517													G|||	3	0.000599042	0.0	0.0	5008	,	,		18962	0.0		0.0	False		,,,				2504	0.0031					ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(15208-15210)Cgg>Tgg		HYDIN, axonemal central pair apparatus protein							159.0	164.0	162.0					16																	70841641		2057	4196	6253	SO:0001583	missense	54768							g.chr16:70841641G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.15208C>T	16.37:g.70841641G>A	ENSP00000377197:p.Arg5070Trp						p.R5070W	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			86	15358	-		Ovarian(137;0.0654)	5070					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.15208C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104288	0.56291	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00966	5.49	6.16	4.18	0.49190	.	0.373546	0.14700	U	0.303581	T	0.05640	0.0148	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.10337	-1.0634	10	0.72032	D	0.01	.	15.109	0.72340	0.0:0.0:0.7129:0.2871	.	5069	F8WD23	.	W	5070;5069	ENSP00000377197:R5070W	ENSP00000313052:R5069W	R	-	1	2	HYDIN	69399142	0.632000	0.27172	0.923000	0.36655	0.267000	0.26476	2.233000	0.43027	0.879000	0.35944	0.650000	0.86243	CGG		0.517	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			5	402	0	0	0	1	0	5	402				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		10	167	0	0	0	1	0	10	167				
ZNF626	199777	broad.mit.edu	37	19	20807796	20807796	+	Missense_Mutation	SNP	C	C	T	rs201387631	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:20807796C>T	ENST00000601440.1	-	4	1033	c.887G>A	c.(886-888)cGg>cAg	p.R296Q	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	296					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						GGTTGAGGACCGGTTGAAGGC	0.388													N|||	2	0.000399361	0.0	0.0	5008	,	,		22011	0.0		0.001	False		,,,				2504	0.001					ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(886-888)cGg>cAg		zinc finger protein 626							81.0	89.0	86.0					19																	20807796		2189	4292	6481	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807796C>T	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.887G>A	19.37:g.20807796C>T	ENSP00000469958:p.Arg296Gln					CTC-513N18.7_ENST00000595094.1_lincRNA	p.R296Q	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1033	-			296					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.887G>A	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.021	-1.422862	0.01126	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.865	-0.414	0.12359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14787	0.0357	N	0.17564	0.495	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.32107	-0.9919	8	0.02654	T	1	.	3.3511	0.07153	0.0:0.3739:0.0:0.6261	.	296	Q68DY1	ZN626_HUMAN	Q	296;220;296	.	ENSP00000445201:R296Q	R	-	2	0	ZNF626	20599636	0.000000	0.05858	0.043000	0.18650	0.043000	0.13939	-4.983000	0.00163	0.277000	0.22141	0.282000	0.19409	CGG		0.388	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		6	598	0	0	0	1	0	6	598				
GBA2	57704	broad.mit.edu	37	9	35738753	35738753	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:35738753C>T	ENST00000378103.3	-	12	2466	c.1943G>A	c.(1942-1944)tGt>tAt	p.C648Y	GBA2_ENST00000545786.1_Missense_Mutation_p.C654Y|GBA2_ENST00000378088.1_5'Flank|GBA2_ENST00000378094.4_Missense_Mutation_p.C648Y|GBA2_ENST00000467252.1_5'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	648					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTTACTAGACACACAGGCCA	0.522																																						ENST00000378094.4																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(1942-1944)tGt>tAt		glucosidase, beta (bile acid) 2							119.0	114.0	116.0					9																	35738753		2203	4300	6503	SO:0001583	missense	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35738753C>T	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1943G>A	9.37:g.35738753C>T	ENSP00000367343:p.Cys648Tyr					GBA2_ENST00000378103.3_Missense_Mutation_p.C648Y|GBA2_ENST00000545786.1_Missense_Mutation_p.C654Y|GBA2_ENST00000467252.1_5'UTR	p.C648Y			Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		12	2456	-	all_epithelial(49;0.167)		648					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.1943G>A	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850912	0.71719	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	6.08	5.18	0.71444	Six-hairpin glycosidase-like (1);Glucosylceramidase (1);	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	M	0.78049	2.395	0.80722	D	1	B;D;B	0.71674	0.202;0.998;0.241	B;D;B	0.67548	0.097;0.952;0.157	T	0.81068	-0.1100	9	0.87932	D	0	-15.2752	13.4627	0.61235	0.0:0.9284:0.0:0.0716	.	654;648;648	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	Y	648;648;654	.	ENSP00000367334:C648Y	C	-	2	0	GBA2	35728753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.709000	0.84645	1.590000	0.49995	0.655000	0.94253	TGT		0.522	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		25	281	0	0	0	1	0	25	281				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P	p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		7	498	0	0	0	1	0	7	498				
AZIN2	113451	broad.mit.edu	37	1	33583674	33583675	+	Frame_Shift_Ins	INS	-	-	C	rs576544248		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:33583674_33583675insC	ENST00000294517.6	+	11	1788_1789	c.1201_1202insC	c.(1201-1203)accfs	p.T401fs	ADC_ENST00000398167.1_Frame_Shift_Ins_p.T421fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.T421fs|ADC_ENST00000373443.3_Frame_Shift_Ins_p.T401fs|ADC_ENST00000484656.1_3'UTR	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		401					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	CTTTTGGGGGACCCAGGCCTGC	0.624																																						ENST00000294517.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(1201-1203)ccafs		arginine decarboxylase	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33583674_33583675insC																												ENST00000294517.6:c.1204dupC	1.37:g.33583677_33583677dupC	ENSP00000294517:p.Thr401fs					ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Frame_Shift_Ins_p.P421fs|ADC_ENST00000373443.3_Frame_Shift_Ins_p.P401fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.P421fs	p.P401fs	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN			11	1788_1789	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	401					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Frame_Shift_Ins	INS	ENST00000294517.6	37	c.1201_1202insC	CCDS375.1																																																																																				0.624	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			11	401						11	401	---	---	---	---
C1orf94	84970	broad.mit.edu	37	1	34666398	34666398	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:34666398delA	ENST00000488417.1	+	3	1155	c.1035delA	c.(1033-1035)ccafs	p.P345fs	C1orf94_ENST00000373374.3_Frame_Shift_Del_p.P155fs	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	345										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCAAGGAGCCAAAAAAGGGTC	0.572																																						ENST00000488417.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1033-1035)ccfs		chromosome 1 open reading frame 94							71.0	69.0	70.0					1																	34666398		2203	4300	6503	SO:0001589	frameshift_variant	84970						protein binding	g.chr1:34666398delA	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1035delA	1.37:g.34666398delA	ENSP00000435634:p.Pro345fs					C1orf94_ENST00000373374.3_Frame_Shift_Del_p.P155fs	p.P345fs	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN			3	1155	+		Myeloproliferative disorder(586;0.0393)	155					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Frame_Shift_Del	DEL	ENST00000488417.1	37	c.1035delA	CCDS44108.1																																																																																				0.572	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		7	414						7	414	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137698	121137699	+	lincRNA	INS	-	-	TT	rs57730437|rs371916849		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:121137698_121137699insTT	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							CTACTTACATCTTTTTGTCTTT	0.441																																						ENST00000437515.1																			0																																																			0							g.chr1:121137698_121137699insTT																													1.37:g.121137701_121137702dupTT														0	329	-									RNA	INS	ENST00000417218.1	37																																																																																						0.441	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			17	150						17	150	---	---	---	---
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:151773603delA	ENST00000368820.3	-	2	2515	c.1578delT	c.(1576-1578)tttfs	p.F526fs	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	526						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTATCCAGAAAAAAAGGCC	0.582																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1576-1578)ttfs		leucine rich repeat and Ig domain containing 4							131.0	137.0	135.0					1																	151773603		2203	4300	6503	SO:0001589	frameshift_variant	339398					integral to membrane		g.chr1:151773603delA		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1578delT	1.37:g.151773603delA	ENSP00000357810:p.Phe526fs						p.F526fs	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	2515	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		526						Frame_Shift_Del	DEL	ENST00000368820.3	37	c.1578delT	CCDS30855.1																																																																																				0.582	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		8	968						8	968	---	---	---	---
TMCO1	54499	broad.mit.edu	37	1	165712550	165712551	+	Splice_Site	INS	-	-	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:165712550_165712551insA	ENST00000392129.6	-	6	474		c.e6-2		TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000367881.5_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381																																						ENST00000367881.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.e6-2		transmembrane and coiled-coil domains 1																																				SO:0001630	splice_region_variant	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165712550_165712551insA	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.324-2->T	1.37:g.165712554_165712554dupA						TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site				Q9UM00	TMCO1_HUMAN			6	752	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)							B2REA0|O75545|Q9BZS3|Q9BZU8	Splice_Site	INS	ENST00000392129.6	37																																																																																						0.381	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026	Intron	7	343						7	343	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:183515266_183515267insA	ENST00000347615.2	+	17	2655_2656	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_ENST00000507469.1_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.E804fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.E758fs|SMG7_ENST00000367537.3_Frame_Shift_Ins_p.E829fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.45																																						ENST00000367537.3																			1	Unknown(1)	p.?(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2485-2487)aaafs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515266_183515267insA	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2545dupA	1.37:g.183515275_183515275dupA	ENSP00000340766:p.Glu846fs					SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs	p.K829fs			Q92540	SMG7_HUMAN			18	2680_2681	+			846			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	ENST00000347615.2	37	c.2485_2486insA	CCDS1355.1																																																																																				0.450	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		10	419						10	419	---	---	---	---
RPLP0P6	220717	broad.mit.edu	37	2	38710012	38710013	+	lincRNA	INS	-	-	AAA	rs71402229|rs56728844		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:38710012_38710013insAAA	ENST00000417039.1	-	0	696																											CTTACTTCTTtaaaaaataaat	0.252																																						ENST00000417039.1																			0																																																			0							g.chr2:38710012_38710013insAAA																													2.37:g.38710016_38710018dupAAA														0	696	-									RNA	INS	ENST00000417039.1	37																																																																																						0.252	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			12	49						12	49	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61575023	61575025	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:61575023_61575025delTGG	ENST00000398571.2	-	15	2341_2343	c.2265_2267delCCA	c.(2263-2268)caccat>cat	p.755_756HH>H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	755					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			gtggtggtgatggtggtggtggt	0.389																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(2263-2268)cat>ca		ubiquitin specific peptidase 34																																				SO:0001651	inframe_deletion	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61575023_61575025delTGG	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2265_2267delCCA	2.37:g.61575032_61575034delTGG	ENSP00000381577:p.His760del						p.HH759del	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		15	2341_2343	-			759					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	In_Frame_Del	DEL	ENST00000398571.2	37	c.2265_2267delCCA	CCDS42686.1																																																																																				0.389	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			8	264						8	264	---	---	---	---
AFTPH	54812	broad.mit.edu	37	2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)gatdel	p.D26del	AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(64-66)del		aftiphilin																																				SO:0001651	inframe_deletion	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64778672_64778674delGAT	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.64_66delGAT	2.37:g.64778681_64778683delGAT	ENSP00000397726:p.Asp26del					AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del	p.D26del			Q6ULP2	AFTIN_HUMAN			2	378_380	+			26					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	In_Frame_Del	DEL	ENST00000422803.1	37	c.64_66delGAT																																																																																					0.409	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		10	725						10	725	---	---	---	---
LOC101927533	101927533	broad.mit.edu	37	2	65738863	65738863	+	lincRNA	DEL	G	G	-	rs373784983|rs377731020		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:65738863delG	ENST00000377977.3	+	0	862																											TTTTTTTTTTGTCCAGGAGGC	0.303																																						ENST00000377977.3																			0																																																			0							g.chr2:65738863delG																													2.37:g.65738863delG														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.303	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			4	8						4	8	---	---	---	---
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:96919781_96919783delTGC	ENST00000258439.3	-	4	736_738	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_ENST00000432959.1_In_Frame_Del_p.Q160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.Q76del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557																																						ENST00000258439.2																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						c.(478-483)cat>ca		transmembrane protein 127																																				SO:0001651	inframe_deletion	55654				negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane		g.chr2:96919781_96919783delTGC	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.480_482delGCA	2.37:g.96919790_96919792delTGC	ENSP00000258439:p.Gln160del					TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del	p.QH160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN			4	736_738	-			160					D3DXH0	In_Frame_Del	DEL	ENST00000258439.3	37	c.480_482delGCA	CCDS2018.1																																																																																				0.557	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		12	465						12	465	---	---	---	---
LINC00698	285401	broad.mit.edu	37	3	63083094	63083096	+	lincRNA	DEL	CTG	CTG	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:63083094_63083096delCTG	ENST00000468072.1	+	0	125					NR_027104.1				long intergenic non-protein coding RNA 698																		TCCGAGCCGTCTGCTGCTGCTGC	0.562																																						ENST00000468072.1																			0																																																			0							g.chr3:63083094_63083096delCTG	BC039502, BC043407		3p14.2	2012-11-23			ENSG00000244342	ENSG00000244342		"""Long non-coding RNAs"""	27720	non-coding RNA	RNA, long non-coding							Standard	NR_027104		Approved		uc003dlo.3		OTTHUMG00000158701		3.37:g.63083103_63083105delCTG								NR_027104.1						0	125	+									RNA	DEL	ENST00000468072.1	37																																																																																						0.562	LINC00698-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000351800.1	NR_027104		8	557						8	557	---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154032977	154032978	+	Frame_Shift_Ins	INS	-	-	T	rs373108427		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:154032977_154032978insT	ENST00000496811.1	-	3	540_541	c.460_461insA	c.(460-462)atgfs	p.M154fs	DHX36_ENST00000308361.6_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.M154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	154					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATTCTAAACATTTTTTTTTCT	0.337																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(460-462)gttfs		DEAH (Asp-Glu-Ala-His) box polypeptide 36																																				SO:0001589	frameshift_variant	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154032977_154032978insT	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.461dupA	3.37:g.154032986_154032986dupT	ENSP00000417078:p.Met154fs					DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs	p.V154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		3	540_541	-			154					B2RB00|Q70JU3|Q8IYE5|Q9P240	Frame_Shift_Ins	INS	ENST00000496811.1	37	c.460_461insA	CCDS3171.1																																																																																				0.337	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		7	272						7	272	---	---	---	---
MFI2	4241	broad.mit.edu	37	3	196733535	196733536	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:196733535_196733536insG	ENST00000296350.5	-	14	1935_1936	c.1822_1823insC	c.(1822-1824)cgafs	p.R608fs	MFI2-AS1_ENST00000446695.1_RNA|MFI2-AS1_ENST00000424769.1_RNA|MFI2-AS1_ENST00000414354.1_RNA|MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000415244.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	608	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)	p.R608*(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CACCTCGGCTCGGGCCCCGTTG	0.624																																						ENST00000296350.5																			1	Substitution - Nonsense(1)	p.R608*(1)	lung(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(1822-1824)agcfs		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5																																				SO:0001589	frameshift_variant	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196733535_196733536insG		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1823dupC	3.37:g.196733538_196733538dupG	ENSP00000296350:p.Arg608fs						p.S608fs	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	14	1935_1936	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		608			Transferrin-like 2.		Q9BQE2	Frame_Shift_Ins	INS	ENST00000296350.5	37	c.1822_1823insC	CCDS3325.1																																																																																				0.624	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			14	176						14	176	---	---	---	---
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2																			1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)del		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del						p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		10	319						10	319	---	---	---	---
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs200886831|rs551189349|rs199544375		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777																																						ENST00000244496.5																			2	Deletion - In frame(2)	p.A8_G9delAG(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(22-27)del		ribosomal RNA processing 36 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989414_42989419delGCCGGG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.22_27delGCCGGG	6.37:g.42989420_42989425delGCCGGG	ENSP00000244496:p.Ala14_Gly15del						p.AG14del	NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN			1	32_37	+			14					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.22_27delGCCGGG	CCDS34453.1																																																																																				0.777	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		7	27						7	27	---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A	rs551348450	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:76599857_76599858insA	ENST00000369977.3	+	26	2881_2882	c.2742_2743insA	c.(2743-2745)aaafs	p.K915fs	MYO6_ENST00000369975.1_Frame_Shift_Ins_p.K915fs|MYO6_ENST00000369981.3_Frame_Shift_Ins_p.K915fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.K915fs	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	915					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381													AAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|insertion	18	0.00359425	0.0083	0.0014	5008	,	,		16538	0.0		0.0	False		,,,				2504	0.0061					ENST00000369981.3																			1	Deletion - Frameshift(1)	p.K917fs*10(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2740-2745)caaaaafs		myosin VI				9,4255		0,9,2123						5.8	1.0			86	31,8223		0,31,4096	no	frameshift	MYO6	NM_004999.3		0,40,6219	A1A1,A1R,RR		0.3756,0.2111,0.3195				40,12478				SO:0001589	frameshift_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76599857_76599858insA	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2751dupA	6.37:g.76599866_76599866dupA	ENSP00000358994:p.Lys915fs					MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs	p.QK914fs			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	26	3021_3022	+		all_hematologic(105;0.189)	914					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Frame_Shift_Ins	INS	ENST00000369977.3	37	c.2742_2743insA	CCDS34487.1																																																																																				0.381	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		14	373						14	373	---	---	---	---
NEUROD6	63974	broad.mit.edu	37	7	31378634	31378635	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:31378634_31378635insT	ENST00000297142.3	-	2	570_571	c.248_249insA	c.(247-249)aagfs	p.K83fs		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	83					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTTTGTTGTCTTTTTTTTCCT	0.52																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(247-249)aacfs		neuronal differentiation 6																																				SO:0001589	frameshift_variant	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378634_31378635insT	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.249dupA	7.37:g.31378642_31378642dupT	ENSP00000297142:p.Lys83fs						p.N83fs	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	570_571	-			83					Q548T9|Q9H3H6	Frame_Shift_Ins	INS	ENST00000297142.3	37	c.248_249insA	CCDS5434.1																																																																																				0.520	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		9	1151						9	1151	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284901	38284902	+	RNA	DEL	TA	TA	-	rs200052170|rs370662429		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:38284901_38284902delTA	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										tgtgtgtgtgtatgtgtgtgtg	0.376																																						ENST00000436911.2																			0																																																			0							g.chr7:38284901_38284902delTA	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284901_38284902delTA														0	330	-									RNA	DEL	ENST00000436911.2	37																																																																																						0.376	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		9	511						9	511	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150824	65150825	+	RNA	INS	-	-	G	rs374730441|rs202004878|rs183571014|rs553737227	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:65150824_65150825insG	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TCACCCCCCCCCCCGTTAAAAT	0.47																																						ENST00000430126.2																			0																																																			0							g.chr7:65150824_65150825insG	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150824_65150825insG														0	757	+									RNA	INS	ENST00000430126.2	37																																																																																						0.470	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		8	55						8	55	---	---	---	---
GTF2IRD2P1	401375	broad.mit.edu	37	7	72683455	72683456	+	RNA	INS	-	-	T	rs556745507	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:72683455_72683456insT	ENST00000425256.1	-	0	120									GTF2I repeat domain containing 2 pseudogene 1																		CGTTCTACCAgtttttttttgt	0.441													|||unknown(NO_COVERAGE)	44	0.00878594	0.0325	0.0014	5008	,	,		20043	0.0		0.0	False		,,,				2504	0.0					ENST00000425256.1																			0																																																			0							g.chr7:72683455_72683456insT	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72683464_72683464dupT								NR_002164.1						0	120	-									RNA	INS	ENST00000425256.1	37																																																																																						0.441	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		8	447						8	447	---	---	---	---
PHTF2	57157	broad.mit.edu	37	7	77569581	77569581	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:77569581delT	ENST00000248550.7	+	13	1778	c.1702delT	c.(1702-1704)tttfs	p.F569fs	PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000416283.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GTGGATTTTCTTTTTTTTGCT	0.303																																						ENST00000416283.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(1600-1602)ttfs		putative homeodomain transcription factor 2							155.0	145.0	148.0					7																	77569581		1810	4080	5890	SO:0001589	frameshift_variant	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77569581delT	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1702delT	7.37:g.77569581delT	ENSP00000248550:p.Phe569fs					PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000248550.7_Frame_Shift_Del_p.F569fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs	p.F535fs	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN			12	1726	+			569					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Frame_Shift_Del	DEL	ENST00000248550.7	37	c.1600delT																																																																																					0.303	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		7	654						7	654	---	---	---	---
TRBV7-8	28590	broad.mit.edu	37	7	142099805	142099806	+	RNA	DEL	AC	AC	-	rs368401262		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:142099805_142099806delAC	ENST00000390359.3	-	0	88									T cell receptor beta variable 7-8																		TAGTCATcatacacacacacac	0.441																																						ENST00000390359.3																			0																	1150,504,192,73,32,19,1642		93,271,69,34,0,6,584,12,24,19,0,2,164,6,1,0,1,85,0,0,0,19,5,0,22,2,6,381						-3.9	0.0		dbSNP_134	72	454,34,630,2,192,56,6534		14,14,43,0,0,6,363,1,6,0,0,0,12,12,1,0,4,552,0,0,0,1,3,0,186,1,44,2688	no	intergenic				107,285,112,34,0,12,947,13,30,19,0,2,176,18,2,0,5,637,0,0,0,20,8,0,208,3,50,3069	A1A1,A1A2,A1A3,A1A4,A1A5,A1A6,A1R,A2A2,A2A3,A2A4,A2A5,A2A6,A2R,A3A3,A3A4,A3A5,A3A6,A3R,A4A4,A4A5,A4A6,A4R,A5A5,A5A6,A5R,A6A6,A6R,RR		17.3121,54.5404,28.9908				1604,538,822,75,224,75,8176						0							g.chr7:142099805_142099806delAC	M11953		7q34	2012-02-07			ENSG00000229200			"""T cell receptors / TRB locus"""	12242	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV78, TCRBV6S2A1N1T, TCRBV7S8			OTTHUMG00000158875		7.37:g.142099815_142099816delAC														0	88	-									RNA	DEL	ENST00000390359.3	37																																																																																						0.441	TRBV7-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352483.1	NG_001333		11	232						11	232	---	---	---	---
ESCO2	157570	broad.mit.edu	37	8	27634576	27634577	+	Frame_Shift_Ins	INS	-	-	A	rs80359854|rs80359853		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:27634576_27634577insA	ENST00000305188.8	+	3	989_990	c.751_752insA	c.(751-753)gaafs	p.E251fs	ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	251					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GACTGTCAGTGAAAAAAAAACT	0.396									SC Phocomelia syndrome																													ENST00000305188.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	GRCh37	CI054453	ESCO2	I	rs80359852	c.(751-753)aaafs		establishment of sister chromatid cohesion N-acetyltransferase 2																																				SO:0001589	frameshift_variant	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27634576_27634577insA	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.760dupA	8.37:g.27634585_27634585dupA	ENSP00000306999:p.Glu251fs					ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	p.K251fs	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	3	989_990	+		Ovarian(32;0.000953)	251					B3KW59|Q49AP4	Frame_Shift_Ins	INS	ENST00000305188.8	37	c.751_752insA	CCDS34872.1																																																																																				0.396	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		10	291						10	291	---	---	---	---
TSNARE1	203062	broad.mit.edu	37	8	143310866	143310868	+	In_Frame_Del	DEL	GAT	GAT	-	rs142964918|rs577569567		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:143310866_143310868delGAT	ENST00000307180.3	-	13	1636_1638	c.1519_1521delATC	c.(1519-1521)atcdel	p.I507del	TSNARE1_ENST00000524325.1_In_Frame_Del_p.I506del|TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	507	Poly-Ile.				intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGAGGTGGCGATGATGATGATG	0.512																																						ENST00000524325.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20						c.(1516-1518)del		t-SNARE domain containing 1																																				SO:0001651	inframe_deletion	203062				vesicle-mediated transport	integral to membrane		g.chr8:143310866_143310868delGAT			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1519_1521delATC	8.37:g.143310875_143310877delGAT	ENSP00000303437:p.Ile507del					TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del|TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del	p.I506del			Q96NA8	TSNA1_HUMAN			13	1691_1693	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		507			Poly-Ile.		B7ZLB0|Q14D03	In_Frame_Del	DEL	ENST00000307180.3	37	c.1516_1518delATC	CCDS6384.1																																																																																				0.512	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		7	314						7	314	---	---	---	---
KIF24	347240	broad.mit.edu	37	9	34257622	34257623	+	Frame_Shift_Ins	INS	-	-	T	rs570788521	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:34257622_34257623insT	ENST00000402558.2	-	10	2006_2007	c.1982_1983insA	c.(1981-1983)aagfs	p.K661fs	KIF24_ENST00000379174.3_Frame_Shift_Ins_p.K527fs|KIF24_ENST00000379166.2_Frame_Shift_Ins_p.K661fs|KIF24_ENST00000345050.2_Frame_Shift_Ins_p.K527fs			Q5T7B8	KIF24_HUMAN	kinesin family member 24	661					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K143fs*34(1)|p.K661fs*34(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			ACTCTTCTGGCTTTTTTTTGGC	0.53																																						ENST00000379166.2																			2	Deletion - Frameshift(2)	p.K143fs*34(1)|p.K661fs*34(1)	large_intestine(2)	breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1981-1983)accfs		kinesin family member 24																																				SO:0001589	frameshift_variant	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34257622_34257623insT	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1983dupA	9.37:g.34257630_34257630dupT	ENSP00000384433:p.Lys661fs					KIF24_ENST00000379174.3_Frame_Shift_Ins_p.T527fs|KIF24_ENST00000345050.2_Frame_Shift_Ins_p.T527fs|KIF24_ENST00000402558.2_Frame_Shift_Ins_p.T661fs	p.T661fs	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	2101_2102	-			661					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Frame_Shift_Ins	INS	ENST00000402558.2	37	c.1982_1983insA	CCDS6551.2																																																																																				0.530	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			7	351						7	351	---	---	---	---
PPP1R26	9858	broad.mit.edu	37	9	138377977	138377977	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:138377977delT	ENST00000356818.2	+	4	2170	c.1621delT	c.(1621-1623)tttfs	p.F541fs	PPP1R26_ENST00000604351.1_Frame_Shift_Del_p.F541fs|PPP1R26_ENST00000401470.3_Frame_Shift_Del_p.F541fs|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Frame_Shift_Del_p.F541fs|PPP1R26_ENST00000605286.1_Frame_Shift_Del_p.F541fs	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	541					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AATCCGGACATTTTTGGCCCT	0.617																																						ENST00000356818.2																			0											c.(1621-1623)ttfs		protein phosphatase 1, regulatory subunit 26							102.0	106.0	104.0					9																	138377977		2203	4299	6502	SO:0001589	frameshift_variant	9858					nucleolus	protein binding	g.chr9:138377977delT	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1621delT	9.37:g.138377977delT	ENSP00000349274:p.Phe541fs					PPP1R26_ENST00000605286.1_Frame_Shift_Del_p.F541fs|PPP1R26_ENST00000604351.1_Frame_Shift_Del_p.F541fs|PPP1R26_ENST00000401470.3_Frame_Shift_Del_p.F541fs|PPP1R26_ENST00000605660.1_Frame_Shift_Del_p.F541fs|PPP1R26_ENST00000602993.1_Intron	p.F541fs	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	2170	+			541					Q86WU0|Q8WVV0|Q9Y4D3	Frame_Shift_Del	DEL	ENST00000356818.2	37	c.1621delT	CCDS6988.1																																																																																				0.617	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		7	848						7	848	---	---	---	---
ERCC6	2074	broad.mit.edu	37	10	50732139	50732141	+	In_Frame_Del	DEL	CCT	CCT	-	rs4253047	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:50732139_50732141delCCT	ENST00000355832.5	-	5	1413_1415	c.1335_1337delAGG	c.(1333-1338)ggaggt>ggt	p.445_446GG>G	ERCC6-PGBD3_ENST00000515869.1_In_Frame_Del_p.445_446GG>G|PGBD3_ENST00000374127.3_5'UTR|PGBD3_ENST00000603152.1_In_Frame_Del_p.445_446GG>G|ERCC6-PGBD3_ENST00000447839.2_In_Frame_Del_p.445_446GG>G	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	445	Gly-rich.		G -> D (in dbSNP:rs4253047). {ECO:0000269|Ref.3}.		activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CACTTTCCGACCTCCTCCTCCTC	0.458								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1333-1338)ggt>gg	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6																																				SO:0001651	inframe_deletion	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50732139_50732141delCCT	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1335_1337delAGG	10.37:g.50732148_50732150delCCT	ENSP00000348089:p.Gly446del					ERCC6-PGBD3_ENST00000447839.2_In_Frame_Del_p.GG445del|PGBD3_ENST00000603152.1_In_Frame_Del_p.GG445del|PGBD3_ENST00000374127.3_5'UTR|ERCC6-PGBD3_ENST00000515869.1_In_Frame_Del_p.GG445del	p.GG445del	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			5	1413_1415	-			445			Gly-rich.		D3DX94|Q5W0L9	In_Frame_Del	DEL	ENST00000355832.5	37	c.1335_1337delAGG	CCDS7229.1																																																																																				0.458	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		7	572						7	572	---	---	---	---
A1CF	29974	broad.mit.edu	37	10	52569667	52569669	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:52569667_52569669delAGC	ENST00000373993.1	-	10	1662_1664	c.1618_1620delGCT	c.(1618-1620)gctdel	p.A540del	A1CF_ENST00000282641.2_In_Frame_Del_p.A540del|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000493415.1_5'Flank|A1CF_ENST00000374001.2_In_Frame_Del_p.A532del|A1CF_ENST00000395495.1_In_Frame_Del_p.A485del|A1CF_ENST00000373995.3_In_Frame_Del_p.A540del|A1CF_ENST00000395489.2_In_Frame_Del_p.A533del|A1CF_ENST00000373997.3_In_Frame_Del_p.A532del			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	540					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGAAagcagtagcagcagcagca	0.512																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1597-1599)del		APOBEC1 complementation factor																																				SO:0001651	inframe_deletion	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52569667_52569669delAGC	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1618_1620delGCT	10.37:g.52569676_52569678delAGC	ENSP00000363105:p.Ala540del					A1CF_ENST00000373993.1_In_Frame_Del_p.A540del|A1CF_ENST00000395495.1_In_Frame_Del_p.A485del|A1CF_ENST00000374001.1_In_Frame_Del_p.A532del|A1CF_ENST00000282641.2_In_Frame_Del_p.A540del|A1CF_ENST00000373995.3_In_Frame_Del_p.A540del|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373997.3_In_Frame_Del_p.A532del	p.A533del	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			14	1993_1995	-			540					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	In_Frame_Del	DEL	ENST00000373993.1	37	c.1597_1599delGCT	CCDS7242.1																																																																																				0.512	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		7	357						7	357	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-	rs201441910		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1.0			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		16	923						16	923	---	---	---	---
SLIT1	6585	broad.mit.edu	37	10	98799862	98799862	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:98799862delC	ENST00000266058.4	-	21	2425	c.2180delG	c.(2179-2181)ggcfs	p.G727fs	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Frame_Shift_Del_p.G727fs	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	727	LRRNT 4.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.G727fs*65(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGGCAGGCAGCCCCCCTCCTC	0.697																																						ENST00000266058.4																			1	Deletion - Frameshift(1)	p.G727fs*65(1)	large_intestine(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(2179-2181)gcfs		slit homolog 1 (Drosophila)							25.0	25.0	25.0					10																	98799862		2202	4300	6502	SO:0001589	frameshift_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98799862delC	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.2180delG	10.37:g.98799862delC	ENSP00000266058:p.Gly727fs					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Frame_Shift_Del_p.G727fs	p.G727fs	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	21	2425	-		Colorectal(252;0.162)	727			LRRNT 4.		Q5T0V1|Q8WWZ2|Q9UIL7	Frame_Shift_Del	DEL	ENST00000266058.4	37	c.2180delG	CCDS7453.1																																																																																				0.697	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		13	66						13	66	---	---	---	---
INA	9118	broad.mit.edu	37	10	105048271	105048273	+	In_Frame_Del	DEL	GAG	GAG	-	rs545805667	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:105048271_105048273delGAG	ENST00000369849.4	+	3	1394_1396	c.1345_1347delGAG	c.(1345-1347)gagdel	p.E454del		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	454	Poly-Glu.|Tail.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)	p.E449_E450delEE(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACTTAAGAAAGAGGAGGAGGAGG	0.458														3	0.000599042	0.0008	0.0	5008	,	,		16930	0.001		0.0	False		,,,				2504	0.001					ENST00000369849.4																			1	Deletion - In frame(1)	p.E449_E450delEE(1)	breast(1)	breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13						c.(1345-1347)del		internexin neuronal intermediate filament protein, alpha																																				SO:0001651	inframe_deletion	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105048271_105048273delGAG	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1345_1347delGAG	10.37:g.105048280_105048282delGAG	ENSP00000358865:p.Glu454del						p.E454del	NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	3	1394_1396	+			454			Poly-Glu.|Tail.		B1AQK0|Q9BRC5	In_Frame_Del	DEL	ENST00000369849.4	37	c.1345_1347delGAG	CCDS7545.1																																																																																				0.458	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		7	446						7	446	---	---	---	---
SLK	9748	broad.mit.edu	37	10	105727547	105727549	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:105727547_105727549delAGA	ENST00000369755.3	+	1	589_591	c.44_46delAGA	c.(43-48)gagaag>gag	p.K19del	SLK_ENST00000335753.4_In_Frame_Del_p.K19del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	19	Poly-Lys.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTGGGGAGCGAGAAGAAGAAGAA	0.448																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(43-48)gag>g		STE20-like kinase																																				SO:0001651	inframe_deletion	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105727547_105727549delAGA		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.44_46delAGA	10.37:g.105727556_105727558delAGA	ENSP00000358770:p.Lys19del					SLK_ENST00000335753.4_In_Frame_Del_p.EK15del	p.EK15del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	1	589_591	+		Colorectal(252;0.178)	15					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	In_Frame_Del	DEL	ENST00000369755.3	37	c.44_46delAGA	CCDS7553.1																																																																																				0.448	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		7	446						7	446	---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61183765	61183767	+	In_Frame_Del	DEL	AGG	AGG	-	rs370932425		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:61183765_61183767delAGG	ENST00000394888.4	-	6	947_949	c.775_777delCCT	c.(775-777)cctdel	p.P259del	CPSF7_ENST00000448745.1_In_Frame_Del_p.P250del|CPSF7_ENST00000439958.3_In_Frame_Del_p.P250del|CPSF7_ENST00000340437.4_In_Frame_Del_p.P302del	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	259	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						AGTGGATACCAGGAGGAGGAGGA	0.611																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(904-906)del		cleavage and polyadenylation specific factor 7, 59kDa																																				SO:0001651	inframe_deletion	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183765_61183767delAGG		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.775_777delCCT	11.37:g.61183774_61183776delAGG	ENSP00000378352:p.Pro259del					CPSF7_ENST00000394888.4_In_Frame_Del_p.P259del|CPSF7_ENST00000448745.1_In_Frame_Del_p.P250del|CPSF7_ENST00000439958.3_In_Frame_Del_p.P250del	p.P302del	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			6	984_986	-			259			Pro-rich.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	In_Frame_Del	DEL	ENST00000394888.4	37	c.904_906delCCT	CCDS44619.1																																																																																				0.611	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		9	219						9	219	---	---	---	---
CORO1B	57175	broad.mit.edu	37	11	67209168	67209168	+	Intron	DEL	G	G	-	rs540646391	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:67209168delG	ENST00000341356.5	-	4	565				CORO1B_ENST00000453768.2_Intron|CORO1B_ENST00000539724.1_5'Flank|CORO1B_ENST00000545016.1_Frame_Shift_Del_p.H164fs|CORO1B_ENST00000393893.1_Intron	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B						actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AGGGGTCCGTGGGGGGGGGGA	0.657													|||unknown(HR)	9	0.00179712	0.0061	0.0014	5008	,	,		10135	0.0		0.0	False		,,,				2504	0.0					ENST00000545016.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(490-492)acfs		coronin, actin binding protein, 1B			,	246,718,2802		22,17,185,55,591,1013					,	-0.5	0.0			7	285,1558,5707		17,8,243,90,1370,2047	no	intron,intron	CORO1B	NM_020441.2,NM_001018070.2	,	39,25,428,145,1961,3060	A1A1,A1A2,A1R,A2A2,A2R,RR		24.4106,25.5975,24.8056	,	,		531,2276,8509				SO:0001627	intron_variant	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67209168delG	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.454+35C>-	11.37:g.67209168delG						CORO1B_ENST00000393893.1_Intron|CORO1B_ENST00000341356.5_Intron|CORO1B_ENST00000453768.2_Intron	p.H164fs			Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		4	575	-			0					B2RD45	Frame_Shift_Del	DEL	ENST00000341356.5	37	c.490delC	CCDS8164.1																																																																																				0.657	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		7	62						7	62	---	---	---	---
OR6C65	403282	broad.mit.edu	37	12	55794610	55794610	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:55794610delT	ENST00000379665.2	+	1	397	c.298delT	c.(298-300)tttfs	p.F101fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L102fs*1(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGCCCAAGTATTTTTTTTAAT	0.358																																						ENST00000379665.2																			1	Deletion - Frameshift(1)	p.L102fs*1(1)	large_intestine(1)	cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						c.(298-300)ttfs		olfactory receptor, family 6, subfamily C, member 65							81.0	87.0	85.0					12																	55794610		2203	4300	6503	SO:0001589	frameshift_variant	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55794610delT		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.298delT	12.37:g.55794610delT	ENSP00000368986:p.Phe101fs						p.F101fs	NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN			1	397	+			101					B2RNH9	Frame_Shift_Del	DEL	ENST00000379665.2	37	c.298delT	CCDS31821.1																																																																																				0.358	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			9	602						9	602	---	---	---	---
XPOT	11260	broad.mit.edu	37	12	64812755	64812755	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:64812755delT	ENST00000332707.5	+	6	899	c.370delT	c.(370-372)tttfs	p.F126fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	126	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.F126fs*6(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GTGGCCCAAGTTTTTTTTTGA	0.443																																						ENST00000332707.5																			1	Deletion - Frameshift(1)	p.F126fs*6(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(370-372)ttfs		exportin, tRNA							118.0	114.0	115.0					12																	64812755		2203	4300	6503	SO:0001589	frameshift_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64812755delT	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.370delT	12.37:g.64812755delT	ENSP00000327821:p.Phe126fs						p.F126fs	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	6	899	+			126			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Frame_Shift_Del	DEL	ENST00000332707.5	37	c.370delT	CCDS31852.1																																																																																				0.443	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		8	495						8	495	---	---	---	---
POP5	51367	broad.mit.edu	37	12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-	rs188092231|rs369463367		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:121017154_121017156delCTC	ENST00000357500.4	-	5	492_494	c.457_459delGAG	c.(457-459)gagdel	p.E153del	POP5_ENST00000341039.2_In_Frame_Del_p.E103del|POP5_ENST00000542776.1_5'UTR	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	153					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517																																						ENST00000341039.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(307-309)del		processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)																																				SO:0001651	inframe_deletion	51367				tRNA processing		protein binding|ribonuclease P activity	g.chr12:121017154_121017156delCTC	AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.457_459delGAG	12.37:g.121017163_121017165delCTC	ENSP00000350098:p.Glu153del					POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del	p.E103del	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN			4	323_325	-	all_neural(191;0.077)|Medulloblastoma(191;0.0922)		153					A6NL80|Q53FS5|Q9Y2Q6	In_Frame_Del	DEL	ENST00000357500.4	37	c.307_309delGAG	CCDS9202.1																																																																																				0.517	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401993.1	NM_015918		7	646						7	646	---	---	---	---
SUPT20H	55578	broad.mit.edu	37	13	37598272	37598274	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:37598272_37598274delAGG	ENST00000350612.6	-	19	1709_1711	c.1489_1491delCCT	c.(1489-1491)cctdel	p.P497del	SUPT20H_ENST00000542180.1_In_Frame_Del_p.P461del|SUPT20H_ENST00000464744.1_In_Frame_Del_p.P498del|SUPT20H_ENST00000360252.4_In_Frame_Del_p.P498del|SUPT20H_ENST00000475892.1_In_Frame_Del_p.P497del|SUPT20H_ENST00000356185.3_In_Frame_Del_p.P498del	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	497					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										GCTTAGAAGAAGGAGGAGGAGTT	0.389																																						ENST00000360252.4																			0											c.(1492-1494)del		suppressor of Ty 20 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	55578							g.chr13:37598272_37598274delAGG	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1489_1491delCCT	13.37:g.37598278_37598280delAGG	ENSP00000218894:p.Pro497del					SUPT20H_ENST00000475892.1_In_Frame_Del_p.P497del|SUPT20H_ENST00000350612.6_In_Frame_Del_p.P497del|SUPT20H_ENST00000356185.3_In_Frame_Del_p.P498del|SUPT20H_ENST00000464744.1_In_Frame_Del_p.P498del|SUPT20H_ENST00000542180.1_In_Frame_Del_p.P461del	p.P498del	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1					19	1739_1741	-								E7ER46|Q71RF3|Q9Y6A6	In_Frame_Del	DEL	ENST00000350612.6	37	c.1492_1494delCCT	CCDS31959.1																																																																																				0.389	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		26	268						26	268	---	---	---	---
RNASEH2B	79621	broad.mit.edu	37	13	51530586	51530587	+	Frame_Shift_Ins	INS	-	-	A	rs200320729|rs75254367|rs112937854	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:51530586_51530587insA	ENST00000336617.3	+	11	1314_1315	c.915_916insA	c.(916-918)aaafs	p.K306fs	RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Intron	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	306					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		GGGTAAAAAATAAAAAAAAAAT	0.297													|||unknown(HR)	150	0.0299521	0.0537	0.0058	5008	,	,		16879	0.004		0.0258	False		,,,				2504	0.046					ENST00000336617.3																			0				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(913-918)aaaaaafs		ribonuclease H2, subunit B																																				SO:0001589	frameshift_variant	79621				RNA catabolic process	nucleus|ribonuclease H2 complex		g.chr13:51530586_51530587insA	AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"""deleted in lymphocytic leukemia 8"", ""Aicardi-Goutieres syndrome 2"""	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.925dupA	13.37:g.51530596_51530596dupA	ENSP00000337623:p.Lys306fs					RNASEH2B_ENST00000422660.1_Intron|RNASEH2B_ENST00000495244.2_3'UTR	p.KK305fs	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	11	1314_1315	+		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)	305					G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Frame_Shift_Ins	INS	ENST00000336617.3	37	c.915_916insA	CCDS9425.1																																																																																				0.297	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3	NM_024570		9	220						9	220	---	---	---	---
IRF9	10379	broad.mit.edu	37	14	24633132	24633134	+	In_Frame_Del	DEL	AGC	AGC	-	rs199740615		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:24633132_24633134delAGC	ENST00000396864.3	+	5	828_830	c.541_543delAGC	c.(541-543)agcdel	p.S187del	IRF9_ENST00000557894.1_In_Frame_Del_p.S85del|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	187	Poly-Ser.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGACATTGGGagcagcagcagca	0.567																																						ENST00000396864.3																			0				NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(541-543)del		interferon regulatory factor 9				167,4097		0,167,1965						-2.5	0.0			53	342,7912		0,342,3785	no	coding	IRF9	NM_006084.4		0,509,5750	A1A1,A1R,RR		4.1434,3.9165,4.0661				509,12009				SO:0001651	inframe_deletion	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24633132_24633134delAGC	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.541_543delAGC	14.37:g.24633141_24633143delAGC	ENSP00000380073:p.Ser187del					IRF9_ENST00000557894.1_In_Frame_Del_p.S85del|RP11-468E2.4_ENST00000558468.1_3'UTR	p.S187del	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	5	828_830	+			187			Poly-Ser.		D3DS61	In_Frame_Del	DEL	ENST00000396864.3	37	c.541_543delAGC	CCDS9615.1																																																																																				0.567	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			8	280						8	280	---	---	---	---
DAAM1	23002	broad.mit.edu	37	14	59787235	59787237	+	In_Frame_Del	DEL	GAA	GAA	-	rs141935137		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:59787235_59787237delGAA	ENST00000395125.1	+	4	396_398	c.373_375delGAA	c.(373-375)gaadel	p.E129del	DAAM1_ENST00000360909.3_In_Frame_Del_p.E129del|DAAM1_ENST00000351081.1_In_Frame_Del_p.E129del	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	129	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTTAGAGAAGGAAGAAGAAGAAG	0.325																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(373-375)del		dishevelled associated activator of morphogenesis 1																																				SO:0001651	inframe_deletion	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59787235_59787237delGAA	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.373_375delGAA	14.37:g.59787244_59787246delGAA	ENSP00000378557:p.Glu129del					DAAM1_ENST00000360909.3_In_Frame_Del_p.E129del|DAAM1_ENST00000351081.1_In_Frame_Del_p.E129del	p.E129del	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	4	396_398	+			129			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	In_Frame_Del	DEL	ENST00000395125.1	37	c.373_375delGAA	CCDS9737.1																																																																																				0.325	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		9	400						9	400	---	---	---	---
DDX24	57062	broad.mit.edu	37	14	94545821	94545823	+	In_Frame_Del	DEL	CCT	CCT	-	rs371331758		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:94545821_94545823delCCT	ENST00000330836.5	-	2	397_399	c.266_268delAGG	c.(265-270)gaggga>gga	p.E89del	IFI27L1_ENST00000393115.3_5'Flank|IFI27L1_ENST00000555523.1_5'Flank|DDX24_ENST00000544005.1_Intron|IFI27L1_ENST00000557066.1_5'Flank|DDX24_ENST00000555054.1_In_Frame_Del_p.E46del|IFI27L1_ENST00000557218.1_5'Flank|IFI27L1_ENST00000553664.1_5'Flank|IFI27L1_ENST00000554544.1_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		8	730						8	730	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96783571	96783572	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:96783571_96783572insT	ENST00000359933.4	-	20	4013_4014	c.3120_3121insA	c.(3118-3123)aaattafs	p.L1041fs		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1041					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGAGAGTCTAATTTTTTTTTCC	0.371																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(3118-3123)aatagafs		autophagy related 2B																																				SO:0001589	frameshift_variant	55102							g.chr14:96783571_96783572insT	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3121dupA	14.37:g.96783580_96783580dupT	ENSP00000353010:p.Leu1041fs						p.NR1040fs	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	20	4013_4014	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1040					Q6ZRE7|Q96DQ3|Q9NW80	Frame_Shift_Ins	INS	ENST00000359933.4	37	c.3120_3121insA	CCDS9944.2																																																																																				0.371	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		8	374						8	374	---	---	---	---
RTL1	388015	broad.mit.edu	37	14	101350670	101350671	+	In_Frame_Ins	INS	-	-	TCT	rs55755518|rs397823434|rs35401447	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:101350670_101350671insTCT	ENST00000534062.1	-	1	513_514	c.455_456insAGA	c.(454-456)gag>gaAGAg	p.152_152E>EE	MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	152					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCTGGTTTTGCTCTTGAGGAGT	0.52														784	0.15655	0.0847	0.1902	5008	,	,		20517	0.0575		0.2684	False		,,,				2504	0.2168					ENST00000534062.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						c.(454-456)gca>gAGAca		retrotransposon-like 1				459,3511		59,341,1585						2.5	0.0		dbSNP_126	223	2155,5335		412,1331,2002	no	coding	RTL1	NM_001134888.2		471,1672,3587	A1A1,A1R,RR		28.7717,11.5617,22.8098				2614,8846				SO:0001652	inframe_insertion	388015							g.chr14:101350670_101350671insTCT		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.453_455dupAGA	14.37:g.101350671_101350673dupTCT	ENSP00000435342:p.Glu152dup						p.152_152A>ET	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN			1	513_514	-			152					E9PKS8	In_Frame_Ins	INS	ENST00000534062.1	37	c.455_456insAGA	CCDS53910.1																																																																																				0.520	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		9	9						9	9	---	---	---	---
IGHV3-48	28424	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	TAC	-	rs199815306|rs144292224	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:106993939_106993941delTAC	ENST00000390624.2	-	0	302_304									immunoglobulin heavy variable 3-48																		TAGTATATGGTACTACTACTACT	0.502																																						ENST00000390624.2																			0																	307,3283		14,279,1502						-5.2	0.0		dbSNP_134	157	272,7558		29,214,3672	no	intergenic				43,493,5174	A1A1,A1R,RR		3.4738,8.5515,5.0701				579,10841						0							g.chr14:106993939_106993941delTAC	M99675		14q32.33	2012-02-08			ENSG00000211964	ENSG00000211964		"""Immunoglobulins / IGH locus"""	5606	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151959		14.37:g.106993948_106993950delTAC														0	302_304	-									RNA	DEL	ENST00000390624.2	37																																																																																						0.502	IGHV3-48-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324605.1	NG_001019		12	1716						12	1716	---	---	---	---
NIPA2	81614	broad.mit.edu	37	15	23021238	23021239	+	Frame_Shift_Ins	INS	-	-	T	rs532440024|rs145147241|rs7170838	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:23021238_23021239insT	ENST00000337451.3	-	4	710_711	c.98_99insA	c.(97-99)aagfs	p.K33fs	NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.K33fs|NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.K33fs|NIPA2_ENST00000559571.1_5'Flank|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.K33fs|NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.K33fs	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	33						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GAAGGAGGCCCTTTTTTTTCAA	0.45																																						ENST00000337451.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15						c.(97-99)aggfs		non imprinted in Prader-Willi/Angelman syndrome 2																																				SO:0001589	frameshift_variant	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23021238_23021239insT	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.99dupA	15.37:g.23021246_23021246dupT	ENSP00000337618:p.Lys33fs					NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.R33fs	p.R33fs	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	4	710_711	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	33					F8W7Y8|Q96F03|Q9BVS2	Frame_Shift_Ins	INS	ENST00000337451.3	37	c.98_99insA	CCDS10010.1																																																																																				0.450	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		8	564						8	564	---	---	---	---
SRP14	6727	broad.mit.edu	37	15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-	rs371085676|rs377432895	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(346-348)del		signal recognition particle 14kDa (homologous Alu RNA binding protein)																																				SO:0001651	inframe_deletion	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328597_40328599delTGC		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"""signal recognition particle 14kD (homologous Alu RNA-binding protein)"""			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.346_348delGCA	15.37:g.40328606_40328608delTGC	ENSP00000267884:p.Ala116del					SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR	p.A116del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	417_419	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	116			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	ENST00000267884.6	37	c.346_348delGCA	CCDS42017.1																																																																																				0.478	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		8	268						8	268	---	---	---	---
C15orf52	388115	broad.mit.edu	37	15	40631781	40631782	+	Frame_Shift_Ins	INS	-	-	C	rs199693415		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:40631781_40631782insC	ENST00000559313.1	-	3	309_310	c.294_295insG	c.(292-297)gggatgfs	p.M99fs	C15orf52_ENST00000397536.2_5'Flank|C15orf52_ENST00000557973.1_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	99							poly(A) RNA binding (GO:0044822)	p.M99fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GTCACAGCCATCCCCCCCTGCT	0.649																																						ENST00000559313.1																			1	Deletion - Frameshift(1)	p.M99fs*3(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19						c.(292-297)ggtggcfs		chromosome 15 open reading frame 52																																				SO:0001589	frameshift_variant	388115							g.chr15:40631781_40631782insC	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.295dupG	15.37:g.40631788_40631788dupC	ENSP00000453969:p.Met99fs						p.G99fs	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	3	309_310	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	99					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Frame_Shift_Ins	INS	ENST00000559313.1	37	c.294_295insG	CCDS10055.2																																																																																				0.649	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		7	537						7	537	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-	rs531337171|rs569719496	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(3127-3129)del		SET domain containing 1A																																				SO:0001651	inframe_deletion	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30982809_30982811delTCC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3127_3129delTCC	16.37:g.30982818_30982820delTCC	ENSP00000262519:p.Ser1058del						p.S1058del	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			13	3813_3815	+			1058			Ser-rich.		A6NP62|Q6PIF3|Q8TAJ6	In_Frame_Del	DEL	ENST00000262519.8	37	c.3127_3129delTCC	CCDS32435.1																																																																																				0.547	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		8	365						8	365	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81201441	81201441	+	RNA	DEL	G	G	-	rs35726804		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:81201441delG	ENST00000531391.1	-	0	1488				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000533478.1_RNA	NM_001278423.1	NP_001265352.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						tctgcaagatggggggggaaa	0.567																																						ENST00000525539.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2																																						114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81201441delG	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81201441delG						PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	3093	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	DEL	ENST00000531391.1	37																																																																																						0.567	PKD1L2-006	KNOWN	basic	protein_coding	polymorphic_pseudogene	OTTHUMT00000387976.1			7	4						7	4	---	---	---	---
WDR81	124997	broad.mit.edu	37	17	1631341	1631343	+	In_Frame_Del	DEL	GAG	GAG	-	rs577690948|rs200758098|rs35048651	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr17:1631341_1631343delGAG	ENST00000409644.1	+	1	3088_3090	c.3088_3090delGAG	c.(3088-3090)gagdel	p.E1033del	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_5'UTR|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000545662.1_5'Flank|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1033				Missing (in Ref. 1; BAB84937). {ECO:0000305}.	negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGGGCTGCTGAGGAGGAGGAGA	0.695														1061	0.211861	0.115	0.196	5008	,	,		16982	0.1835		0.1948	False		,,,				2504	0.4008					ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(3088-3090)del		WD repeat domain 81			,,,	549,3367		98,353,1507					,,,	-11.3	0.0		dbSNP_130	17	1642,6232		262,1118,2557	no	utr-5,intron,coding,intron	WDR81	NM_152348.3,NM_001163811.1,NM_001163809.1,NM_001163673.1	,,,	360,1471,4064	A1A1,A1R,RR		20.8534,14.0194,18.5835	,,,	,,,		2191,9599				SO:0001651	inframe_deletion	124997							g.chr17:1631341_1631343delGAG	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3088_3090delGAG	17.37:g.1631350_1631352delGAG	ENSP00000386609:p.Glu1033del					WDR81_ENST00000419248.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000309182.5_5'UTR|WDR81_ENST00000446363.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA	p.E1033del	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	3088_3090	+			305					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	In_Frame_Del	DEL	ENST00000409644.1	37	c.3088_3090delGAG	CCDS54062.1																																																																																				0.695	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		11	18						11	18	---	---	---	---
MYH10	4628	broad.mit.edu	37	17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr17:8415820_8415822delTTC	ENST00000269243.4	-	22	2944_2946	c.2806_2808delGAA	c.(2806-2808)gaadel	p.E936del	MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000360416.3_In_Frame_Del_p.E967del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	936					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGGTTTCTTTCTTCTTCTTCT	0.35																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(2899-2901)del		myosin, heavy chain 10, non-muscle																																				SO:0001651	inframe_deletion	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8415820_8415822delTTC	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2806_2808delGAA	17.37:g.8415829_8415831delTTC	ENSP00000269243:p.Glu936del					MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del	p.E967del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			24	3037_3039	-			936					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	ENST00000269243.4	37	c.2899_2901delGAA	CCDS11144.1																																																																																				0.350	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			8	338						8	338	---	---	---	---
MLLT6	4302	broad.mit.edu	37	17	36873776	36873777	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr17:36873776_36873777insC	ENST00000325718.7	+	11	1834_1835	c.1743_1744insC	c.(1744-1746)cccfs	p.P582fs	CTB-58E17.9_ENST00000579499.1_RNA|MIR4726_ENST00000577947.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	582					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GCCTCCTGGGGCCCCCAGGGAC	0.653			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1741-1746)ggccccfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6																																				SO:0001589	frameshift_variant	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36873776_36873777insC		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.1748dupC	17.37:g.36873781_36873781dupC	ENSP00000316426:p.Pro582fs					CTB-58E17.9_ENST00000579499.1_RNA	p.GP581fs	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			11	1834_1835	+	Breast(7;4.43e-21)		581					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Frame_Shift_Ins	INS	ENST00000325718.7	37	c.1743_1744insC	CCDS11327.1																																																																																				0.653	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		7	332						7	332	---	---	---	---
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-	rs148510452|rs556262610	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr17:38978766_38978768delTCC	ENST00000269576.5	-	1	79_81	c.70_72delGGA	c.(70-72)ggadel	p.G24del	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544). {ECO:0000305}.	cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547																																						ENST00000269576.5																			0				NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11						c.(70-72)del		keratin 10			,,,	689,7,3556		198,0,293,0,7,1628					,,,	3.0	0.1		dbSNP_134	51	1494,8,6750		368,0,758,0,8,2992	no	intron,intron,intron,codingComplex	KRT10,TMEM99	NM_145274.3,NM_001195387.1,NM_001195386.1,NM_000421.3	,,,	566,0,1051,0,15,4620	A1A1,A1A2,A1R,A2A2,A2R,RR		18.2016,16.3688,17.5784	,,,	,,,		2183,15,10306				SO:0001651	inframe_deletion	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38978766_38978768delTCC	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.70_72delGGA	17.37:g.38978775_38978777delTCC	ENSP00000269576:p.Gly24del					TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	p.G24del	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN			1	79_81	-		Breast(137;0.000301)	24	Missing (in Ref. 1; AAA60544).		Gly-rich.|Head.		Q14664|Q8N175	In_Frame_Del	DEL	ENST00000269576.5	37	c.70_72delGGA	CCDS11377.1																																																																																				0.547	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		7	129						7	129	---	---	---	---
BZRAP1	9256	broad.mit.edu	37	17	56387404	56387406	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr17:56387404_56387406delTCC	ENST00000343736.4	-	21	3976_3978	c.3813_3815delGGA	c.(3811-3816)gaggaa>gaa	p.1271_1272EE>E	BZRAP1_ENST00000355701.3_In_Frame_Del_p.1271_1272EE>E|BZRAP1_ENST00000268893.6_In_Frame_Del_p.1211_1212EE>E			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1271	Poly-Glu.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGctcctcttcctcctcctcct	0.586																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3811-3816)gaa>ga		benzodiazapine receptor (peripheral) associated protein 1			,	10,0,4254		4,0,2,0,0,2126					,	-7.0	0.1			91	24,2,8228		10,0,4,0,2,4111	no	codingComplex,codingComplex	BZRAP1	NM_024418.1,NM_004758.2	,	14,0,6,0,2,6237	A1A1,A1A2,A1R,A2A2,A2R,RR		0.315,0.2345,0.2876	,	,		34,2,12482				SO:0001651	inframe_deletion	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56387404_56387406delTCC	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3813_3815delGGA	17.37:g.56387413_56387415delTCC	ENSP00000345824:p.Glu1274del					BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del|BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del	p.EE1273del	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			21	4683_4685	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1273			Poly-Glu.		O75111|Q8N5W3	In_Frame_Del	DEL	ENST00000343736.4	37	c.3813_3815delGGA	CCDS11605.1																																																																																				0.586	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		12	374						12	374	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65940454	65940456	+	In_Frame_Del	DEL	CAC	CAC	-	rs143937013		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr17:65940454_65940456delCAC	ENST00000321892.4	+	22	7105_7107	c.7044_7046delCAC	c.(7042-7047)agcacc>agc	p.T2353del	BPTF_ENST00000424123.3_In_Frame_Del_p.T2214del|BPTF_ENST00000335221.5_In_Frame_Del_p.T2353del|BPTF_ENST00000306378.6_In_Frame_Del_p.T2227del			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2353	Thr-rich.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCACAGCCAGCACCACCACCACC	0.542																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(7042-7047)agc>ag		bromodomain PHD finger transcription factor																																				SO:0001651	inframe_deletion	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65940454_65940456delCAC	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7044_7046delCAC	17.37:g.65940463_65940465delCAC	ENSP00000315454:p.Thr2353del					BPTF_ENST00000306378.6_In_Frame_Del_p.ST2222del|BPTF_ENST00000335221.5_In_Frame_Del_p.ST2348del|BPTF_ENST00000424123.3_In_Frame_Del_p.ST2209del	p.ST2348del			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		22	7105_7107	+	all_cancers(12;6e-11)		2348			Thr-rich.		Q6NX67|Q7Z7D6|Q9UIG2	In_Frame_Del	DEL	ENST00000321892.4	37	c.7044_7046delCAC																																																																																					0.542	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		7	448						7	448	---	---	---	---
HCN2	610	broad.mit.edu	37	19	615947	615949	+	In_Frame_Del	DEL	CCG	CCG	-	rs527536363|rs56112230|rs529324776|rs377004233	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:615947_615949delCCG	ENST00000251287.2	+	8	2196_2198	c.2143_2145delCCG	c.(2143-2145)ccgdel	p.P721del	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	721	Pro-rich.				cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCTCTTCccgccgccgccgc	0.704																																					Melanoma(145;1175 2427 8056 36306)	ENST00000251287.2																			0				endometrium(5)|lung(4)	9						c.(2143-2145)del		hyperpolarization activated cyclic nucleotide-gated potassium channel 2																																				SO:0001651	inframe_deletion	610				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr19:615947_615949delCCG	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.2143_2145delCCG	19.37:g.615956_615958delCCG	ENSP00000251287:p.Pro721del					AC005559.2_ENST00000591847.1_RNA	p.P721del	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	2196_2198	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	721			Pro-rich.		O60742|O60743|O75267|Q9UBS2	In_Frame_Del	DEL	ENST00000251287.2	37	c.2143_2145delCCG	CCDS12035.1																																																																																				0.704	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		8	89						8	89	---	---	---	---
ZSWIM4	65249	broad.mit.edu	37	19	13941586	13941587	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	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		7	293						7	293	---	---	---	---
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:16640581_16640583delTGC	ENST00000198939.6	-	8	1074_1076	c.1038_1040delGCA	c.(1036-1041)cagcaa>caa	p.346_347QQ>Q	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_In_Frame_Del_p.335_336QQ>Q					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.67																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1003-1008)caa>ca		calcium homeostasis endoplasmic reticulum protein																																				SO:0001651	inframe_deletion	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640581_16640583delTGC	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1038_1040delGCA	19.37:g.16640590_16640592delTGC	ENSP00000198939:p.Gln352del					CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del	p.QQ339del	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			8	1156_1158	-			339			Gln-rich.			In_Frame_Del	DEL	ENST00000198939.6	37	c.1005_1007delGCA																																																																																					0.670	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		12	183						12	183	---	---	---	---
NUDT19	390916	broad.mit.edu	37	19	33200189	33200190	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:33200189_33200190delCT	ENST00000397061.3	+	2	813_814	c.813_814delCT	c.(811-816)gcctctfs	p.S272fs		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	272						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CAAACTTTGCCTCTCTCTCTGA	0.45																																						ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(811-816)gcctfs		nudix (nucleoside diphosphate linked moiety X)-type motif 19																																				SO:0001589	frameshift_variant	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33200189_33200190delCT		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.813_814delCT	19.37:g.33200197_33200198delCT	ENSP00000380251:p.Ser272fs						p.AS271fs	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN			2	813_814	+	Esophageal squamous(110;0.137)		271						Frame_Shift_Del	DEL	ENST00000397061.3	37	c.813_814delCT	CCDS42543.1																																																																																				0.450	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		7	941						7	941	---	---	---	---
ACTN4	81	broad.mit.edu	37	19	39207742	39207756	+	In_Frame_Del	DEL	GGCGCACCATCCCCT	GGCGCACCATCCCCT	-	rs112545413|rs559700598|rs267605466|rs267605467	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:39207742_39207756delGGCGCACCATCCCCT	ENST00000252699.2	+	10	1005_1019	c.929_943delGGCGCACCATCCCCT	c.(928-945)cggcgcaccatcccctgg>cgg	p.RTIPW311del	ACTN4_ENST00000390009.3_In_Frame_Del_p.RTIPW92del|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	311					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGTGGATCCGGCGCACCATCCCCTGGCTGGAGGA	0.647																																					Colon(168;199 1940 10254 46213 46384)	ENST00000252699.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(928-945)cgg>c		actinin, alpha 4																																				SO:0001651	inframe_deletion	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39207742_39207756delGGCGCACCATCCCCT	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.929_943delGGCGCACCATCCCCT	19.37:g.39207742_39207756delGGCGCACCATCCCCT	ENSP00000252699:p.Arg311_Trp315del					ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_In_Frame_Del_p.RRTIPW91del	p.RRTIPW310del	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		10	1005_1019	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		310					A4K467|D6PXK4|O76048	In_Frame_Del	DEL	ENST00000252699.2	37	c.929_943delGGCGCACCATCCCCT	CCDS12518.1																																																																																				0.647	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			11	158						11	158	---	---	---	---
DYRK1B	9149	broad.mit.edu	37	19	40316612	40316612	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:40316612delG	ENST00000593685.1	-	11	2101	c.1633delC	c.(1633-1635)cagfs	p.Q545fs	DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.Q505fs|DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.Q545fs			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	545					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TATCGGGGCTGGGGGGGTAAC	0.692																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1633-1635)agfs		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							22.0	28.0	26.0					19																	40316612		2161	4245	6406	SO:0001589	frameshift_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316612delG	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1633delC	19.37:g.40316612delG	ENSP00000469863:p.Gln545fs					DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.Q545fs|DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.Q505fs|DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.Q517fs	p.Q545fs			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		11	2101	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		545					O75258|O75788|O75789	Frame_Shift_Del	DEL	ENST00000593685.1	37	c.1633delC	CCDS12543.1																																																																																				0.692	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		8	958						8	958	---	---	---	---
SERTAD1	29950	broad.mit.edu	37	19	40929409	40929411	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:40929409_40929411delCTC	ENST00000357949.4	-	2	201_203	c.43_45delGAG	c.(43-45)gagdel	p.E15del		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	15					positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGTTCCTTCTCCTCCTCCTCC	0.557																																						ENST00000357949.4																			0				endometrium(2)|lung(1)|prostate(1)|skin(1)	5						c.(43-45)del		SERTA domain containing 1																																				SO:0001651	inframe_deletion	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40929409_40929411delCTC	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"""CDK4-binding protein p34SEI"", ""transcriptional regulator interacting with the PHD-bromodomain 1"""					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.43_45delGAG	19.37:g.40929418_40929420delCTC	ENSP00000350633:p.Glu15del						p.E15del	NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	201_203	-			15					Q9BUE7	In_Frame_Del	DEL	ENST00000357949.4	37	c.43_45delGAG	CCDS12557.1																																																																																				0.557	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		8	889						8	889	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33330968	33330970	+	In_Frame_Del	DEL	TGC	TGC	-	rs140426729	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr20:33330968_33330970delTGC	ENST00000374796.2	-	12	5660_5662	c.3090_3092delGCA	c.(3088-3093)cagcaa>caa	p.1030_1031QQ>Q	NCOA6_ENST00000359003.2_In_Frame_Del_p.1030_1031QQ>Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1030	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATCATTtgttgctgctgctgct	0.576																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(3088-3093)caa>ca		nuclear receptor coactivator 6																																				SO:0001651	inframe_deletion	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33330968_33330970delTGC	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3090_3092delGCA	20.37:g.33330977_33330979delTGC	ENSP00000363929:p.Gln1032del					NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del	p.QQ1030del			Q14686	NCOA6_HUMAN			12	5660_5662	-			1030			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	In_Frame_Del	DEL	ENST00000374796.2	37	c.3090_3092delGCA	CCDS13241.1																																																																																				0.576	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		11	431						11	431	---	---	---	---
YTHDF1	54915	broad.mit.edu	37	20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gaggtg>gtg	p.E547del	YTHDF1_ENST00000370333.4_In_Frame_Del_p.E497del|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1639-1644)gtg>g		YTH domain family, member 1																																				SO:0001651	inframe_deletion	54915							g.chr20:61833650_61833652delCCT	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1640_1642delAGG	20.37:g.61833659_61833661delCCT	ENSP00000359364:p.Glu547del					YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del	p.EV547del	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	1981_1983	-			547					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	In_Frame_Del	DEL	ENST00000370339.3	37	c.1640_1642delAGG	CCDS13511.1																																																																																				0.557	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		7	562						7	562	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11038813	11038814	+	RNA	INS	-	-	T	rs144107885|rs71292114		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr21:11038813_11038814insT	ENST00000470054.1	-	0	1389_1390							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)		TGACTGAGATGTAAGTTGTTGG	0.446																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038813_11038814insT	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.11038814_11038814dupT												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	1389_1390	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.446	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		9	1551						9	1551	---	---	---	---
