#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
KLHL36	79786	broad.mit.edu	37	16	84684525	84684525	+	Missense_Mutation	SNP	G	G	A	rs79842977	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr16:84684525G>A	ENST00000564996.1	+	2	193	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	KLHL36_ENST00000258157.5_Missense_Mutation_p.E18K	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	18					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAAGATCAGCGAATCATCAAA	0.438													G|||	10	0.00199681	0.0	0.0	5008	,	,		21088	0.0099		0.0	False		,,,				2504	0.0					ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(52-54)Gaa>Aaa		kelch-like family member 36		G	LYS/GLU	1,4397	2.1+/-5.4	0,1,2198	129.0	117.0	121.0		52	5.3	1.0	16	dbSNP_131	121	0,8600		0,0,4300	yes	missense	KLHL36	NM_024731.2	56	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	benign	18/617	84684525	1,12997	2199	4300	6499	SO:0001583	missense	79786							g.chr16:84684525G>A	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.52G>A	16.37:g.84684525G>A	ENSP00000456743:p.Glu18Lys					KLHL36_ENST00000258157.5_Missense_Mutation_p.E18K	p.E18K	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			2	193	+			18					Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.52G>A	CCDS10948.1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	G	17.23	3.337157	0.60963	2.27E-4	0.0	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.73152	-0.72	5.27	5.27	0.74061	BTB/POZ fold (1);	0.194262	0.44097	D	0.000482	T	0.45054	0.1323	N	0.19112	0.55	0.80722	D	1	P;B	0.40638	0.725;0.251	B;B	0.35182	0.197;0.022	T	0.53194	-0.8473	10	0.08599	T	0.76	.	17.8744	0.88821	0.0:0.0:1.0:0.0	.	18;18	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	K	18	ENSP00000258157:E18K	ENSP00000258157:E18K	E	+	1	0	KLHL36	83242026	1.000000	0.71417	0.993000	0.49108	0.742000	0.42306	7.690000	0.84178	2.456000	0.83038	0.561000	0.74099	GAA		0.438	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			13	270	0	0	0	1	0	13	270				
MBD4	8930	broad.mit.edu	37	3	129151965	129151965	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:129151965C>T	ENST00000249910.1	-	6	1712	c.1537G>A	c.(1537-1539)Gca>Aca	p.A513T	MBD4_ENST00000509587.1_5'Flank|MBD4_ENST00000503197.1_Missense_Mutation_p.A513T|MBD4_ENST00000393278.2_Missense_Mutation_p.A195T|MBD4_ENST00000507208.1_Missense_Mutation_p.A513T|MBD4_ENST00000429544.2_Missense_Mutation_p.A507T	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	513					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						ATGGTTTTTGCCCGAAGATCG	0.403								Base excision repair (BER), DNA glycosylases																														ENST00000429544.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						c.(1519-1521)Gca>Aca	Base excision repair (BER), DNA glycosylases	methyl-CpG binding domain protein 4							139.0	141.0	140.0					3																	129151965		2203	4300	6503	SO:0001583	missense	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129151965C>T	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1537G>A	3.37:g.129151965C>T	ENSP00000249910:p.Ala513Thr					MBD4_ENST00000249910.1_Missense_Mutation_p.A513T|MBD4_ENST00000503197.1_Missense_Mutation_p.A513T|MBD4_ENST00000393278.2_Missense_Mutation_p.A195T|MBD4_ENST00000507208.1_Missense_Mutation_p.A513T	p.A507T	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN			6	1714	-			513					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	c.1519G>A	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	C	33	5.273592	0.95459	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000393278;ENST00000507208	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	6.14	6.14	0.99180	HhH-GPD domain (1);DNA glycosylase (2);	0.000000	0.85682	D	0.000000	T	0.81293	0.4792	M	0.79123	2.44	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.994;0.995;1.0;0.998	D;D;D;D;D	0.91635	0.968;0.945;0.945;0.999;0.98	T	0.80353	-0.1418	10	0.56958	D	0.05	-21.0242	20.4701	0.99162	0.0:1.0:0.0:0.0	.	513;195;507;513;513	E9PEE4;Q2MD36;O95243-2;O95243-3;O95243	.;.;.;.;MBD4_HUMAN	T	507;513;513;195;513	ENSP00000394080:A507T;ENSP00000249910:A513T;ENSP00000424873:A513T;ENSP00000376959:A195T;ENSP00000422327:A513T	ENSP00000249910:A513T	A	-	1	0	MBD4	130634655	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.291000	0.78721	2.937000	0.99478	0.650000	0.86243	GCA		0.403	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		7	560	0	0	0	1	0	7	560				
PKD2L1	9033	broad.mit.edu	37	10	102057186	102057186	+	Silent	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:102057186G>A	ENST00000318222.3	-	5	1291	c.909C>T	c.(907-909)atC>atT	p.I303I	PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Silent_p.I303I	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	303					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTGAGAAGTCGATGAACACCA	0.567																																						ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(907-909)atC>atT		polycystic kidney disease 2-like 1							85.0	86.0	85.0					10																	102057186		2203	4300	6503	SO:0001819	synonymous_variant	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102057186G>A	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.909C>T	10.37:g.102057186G>A						PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Silent_p.I303I	p.I303I	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	5	1291	-		Colorectal(252;0.117)	303					O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	ENST00000318222.3	37	c.909C>T	CCDS7492.1																																																																																				0.567	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		37	278	0	0	0	1	0	37	278				
SGCD	6444	broad.mit.edu	37	5	155771593	155771593	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr5:155771593G>A	ENST00000435422.3	+	2	582	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	SGCD_ENST00000447401.1_Missense_Mutation_p.R33Q|SGCD_ENST00000337851.4_Missense_Mutation_p.R33Q|SGCD_ENST00000517913.1_Missense_Mutation_p.R33Q	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	32					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGCGGAAACGATGCCTGTAT	0.483																																						ENST00000435422.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24						c.(94-96)cGa>cAa		sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)							108.0	117.0	114.0					5																	155771593		1959	4133	6092	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:155771593G>A	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.95G>A	5.37:g.155771593G>A	ENSP00000403003:p.Arg32Gln					SGCD_ENST00000517913.1_Missense_Mutation_p.R33Q|SGCD_ENST00000447401.1_Missense_Mutation_p.R33Q|SGCD_ENST00000337851.4_Missense_Mutation_p.R33Q	p.R32Q	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	582	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	32					A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.95G>A	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	G	36	5.719233	0.96839	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.96981	0.9014	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.83275	0.992;0.986;0.996	D	0.95484	0.8563	10	0.25751	T	0.34	-9.9405	19.6056	0.95580	0.0:0.0:1.0:0.0	.	32;33;33	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	Q	33;32;33;33	ENSP00000429378:R33Q;ENSP00000403003:R32Q;ENSP00000338343:R33Q;ENSP00000408324:R33Q	ENSP00000338343:R33Q	R	+	2	0	SGCD	155704171	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.731000	0.98807	2.625000	0.88918	0.655000	0.94253	CGA		0.483	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			40	237	0	0	0	1	0	40	237				
OPRD1	4985	broad.mit.edu	37	1	29185499	29185499	+	Silent	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:29185499C>T	ENST00000234961.2	+	2	503	c.261C>T	c.(259-261)taC>taT	p.Y87Y		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	87					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCAACATCTACATCTTCAACC	0.493																																						ENST00000234961.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(259-261)taC>taT		opioid receptor, delta 1	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)						114.0	115.0	114.0					1																	29185499		2203	4300	6503	SO:0001819	synonymous_variant	4985				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	g.chr1:29185499C>T	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.261C>T	1.37:g.29185499C>T							p.Y87Y	NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	2	503	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	87					B5B0B8	Silent	SNP	ENST00000234961.2	37	c.261C>T	CCDS329.1																																																																																				0.493	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		8	402	0	0	0	1	0	8	402				
LPO	4025	broad.mit.edu	37	17	56345237	56345237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:56345237C>T	ENST00000262290.4	+	13	2337	c.2021C>T	c.(2020-2022)aCc>aTc	p.T674I	LPO_ENST00000582328.1_Missense_Mutation_p.T591I|LPO_ENST00000543544.1_Missense_Mutation_p.T615I|LPO_ENST00000421678.2_Missense_Mutation_p.T591I	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	674					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGTGACAACACCCGCATCACC	0.557																																						ENST00000262290.4																			0				breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(2020-2022)aCc>aTc		lactoperoxidase							114.0	99.0	104.0					17																	56345237		2203	4300	6503	SO:0001583	missense	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56345237C>T	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.2021C>T	17.37:g.56345237C>T	ENSP00000262290:p.Thr674Ile					LPO_ENST00000543544.1_Missense_Mutation_p.T615I|LPO_ENST00000582328.1_Missense_Mutation_p.T591I|LPO_ENST00000421678.2_Missense_Mutation_p.T591I	p.T674I	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			13	2337	+			674					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.2021C>T	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992253	0.93167	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.71817	-0.6;-0.6;-0.6	5.5	5.5	0.81552	.	0.046101	0.85682	D	0.000000	D	0.86994	0.6067	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.89017	0.3432	10	0.72032	D	0.01	-33.3127	17.9786	0.89133	0.0:1.0:0.0:0.0	.	591;674	E7EMJ3;P22079	.;PERL_HUMAN	I	674;591;615;419	ENSP00000262290:T674I;ENSP00000400245:T591I;ENSP00000445344:T615I	ENSP00000262290:T674I	T	+	2	0	LPO	53700236	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.267000	0.78462	2.591000	0.87537	0.655000	0.94253	ACC		0.557	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			65	284	0	0	0	1	0	65	284				
WASH2P	375260	broad.mit.edu	37	2	114355129	114355129	+	RNA	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:114355129G>A	ENST00000538033.2	+	0	2068							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										GAGTCCATCCGCCAAGCTGGG	0.657																																						ENST00000538033.2																			0																																																			0							g.chr2:114355129G>A			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114355129G>A														0	2068	+									RNA	SNP	ENST00000538033.2	37																																																																																						0.657	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943		6	105	0	0	0	1	0	6	105				
CSPG5	10675	broad.mit.edu	37	3	47618421	47618421	+	Silent	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:47618421C>T	ENST00000383738.2	-	2	3193	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R	CSPG5_ENST00000264723.4_Silent_p.R365R|CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000456150.1_Silent_p.R227R	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	365					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGCCGTTATGCCGCACAAAGC	0.627																																						ENST00000383738.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(1093-1095)cgG>cgA		chondroitin sulfate proteoglycan 5 (neuroglycan C)							94.0	97.0	96.0					3																	47618421		2203	4299	6502	SO:0001819	synonymous_variant	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618421C>T	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1095G>A	3.37:g.47618421C>T						CSPG5_ENST00000456150.1_Silent_p.R227R|CSPG5_ENST00000264723.4_Silent_p.R365R	p.R365R	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	3193	-			365					Q71M39|Q71M40	Silent	SNP	ENST00000383738.2	37	c.1095G>A	CCDS56253.1																																																																																				0.627	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		5	443	0	0	0	1	0	5	443				
SERPINB10	5273	broad.mit.edu	37	18	61602106	61602106	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr18:61602106A>C	ENST00000238508.3	+	8	883	c.824A>C	c.(823-825)gAg>gCg	p.E275A	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	275					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AAGCTGAATGAGTGGACCAGT	0.438																																						ENST00000238508.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24						c.(823-825)gAg>gCg		serpin peptidase inhibitor, clade B (ovalbumin), member 10							122.0	117.0	119.0					18																	61602106		2203	4300	6503	SO:0001583	missense	5273							g.chr18:61602106A>C	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.824A>C	18.37:g.61602106A>C	ENSP00000238508:p.Glu275Ala					AC009802.1_ENST00000599868.1_Intron	p.E275A	NM_005024.1	NP_005015.1					8	883	+		Esophageal squamous(42;0.131)						Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	c.824A>C	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	A	4.321	0.059004	0.08339	.	.	ENSG00000242550	ENST00000238508	D	0.84589	-1.87	5.53	3.07	0.35406	Serpin domain (3);	0.291996	0.37623	N	0.002012	T	0.75649	0.3878	L	0.43701	1.375	0.36153	D	0.847574	B	0.28419	0.211	B	0.28465	0.09	T	0.66976	-0.5787	10	0.12766	T	0.61	.	7.9103	0.29787	0.7907:0.1376:0.0717:0.0	.	275	P48595	SPB10_HUMAN	A	275	ENSP00000238508:E275A	ENSP00000238508:E275A	E	+	2	0	SERPINB10	59753086	0.078000	0.21339	0.629000	0.29254	0.699000	0.40488	1.977000	0.40589	0.446000	0.26666	0.533000	0.62120	GAG		0.438	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		52	238	0	0	0	1	0	52	238				
ZNF653	115950	broad.mit.edu	37	19	11596490	11596490	+	Silent	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:11596490C>T	ENST00000293771.5	-	7	1687	c.1551G>A	c.(1549-1551)cgG>cgA	p.R517R	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						TGATCATGTGCCGCCGCAGGT	0.592																																					Pancreas(83;980 1446 4542 6441 43352)	ENST00000293771.5																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						c.(1549-1551)cgG>cgA		zinc finger protein 653							156.0	137.0	143.0					19																	11596490		2203	4300	6503	SO:0001819	synonymous_variant	115950				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11596490C>T	AY072704	CCDS12261.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"""	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1551G>A	19.37:g.11596490C>T						CTC-398G3.6_ENST00000585656.1_Intron	p.R517R	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN			7	1687	-			517					Q96AS7	Silent	SNP	ENST00000293771.5	37	c.1551G>A	CCDS12261.1																																																																																				0.592	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		5	295	0	0	0	1	0	5	295				
NCR2	9436	broad.mit.edu	37	6	41318497	41318497	+	Silent	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:41318497G>A	ENST00000373089.5	+	5	814	c.726G>A	c.(724-726)acG>acA	p.T242T	NCR2_ENST00000373083.4_3'UTR|NCR2_ENST00000373086.3_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	242					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					aacaggtcacggaccttccct	0.478																																						ENST00000373089.5																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14						c.(724-726)acG>acA		natural cytotoxicity triggering receptor 2							100.0	89.0	93.0					6																	41318497		2203	4300	6503	SO:0001819	synonymous_variant	9436				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr6:41318497G>A	AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	6732	protein-coding gene	gene with protein product		604531	"""lymphocyte antigen 95 (activating NK-receptor; NK-p44)"""	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.726G>A	6.37:g.41318497G>A						NCR2_ENST00000373086.3_3'UTR|NCR2_ENST00000373083.4_3'UTR	p.T242T	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN			5	814	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		242					Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Silent	SNP	ENST00000373089.5	37	c.726G>A	CCDS4855.1																																																																																				0.478	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040511.3			7	205	0	0	0	1	0	7	205				
PLXNA2	5362	broad.mit.edu	37	1	208276511	208276511	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:208276511A>G	ENST00000367033.3	-	5	2345	c.1588T>C	c.(1588-1590)Tgg>Cgg	p.W530R		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	530					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGGGCACACCAGCCACAGTGA	0.547																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(1588-1590)Tgg>Cgg		plexin A2							68.0	60.0	63.0					1																	208276511		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208276511A>G	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1588T>C	1.37:g.208276511A>G	ENSP00000356000:p.Trp530Arg						p.W530R	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	5	2345	-			530					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.1588T>C	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220286	0.79464	.	.	ENSG00000076356	ENST00000367033	D	0.92249	-3.0	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.97263	0.9105	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98485	1.0607	10	0.87932	D	0	.	14.5136	0.67804	1.0:0.0:0.0:0.0	.	530	O75051	PLXA2_HUMAN	R	530	ENSP00000356000:W530R	ENSP00000356000:W530R	W	-	1	0	PLXNA2	206343134	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.798000	0.91888	2.025000	0.59659	0.533000	0.62120	TGG		0.547	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		18	75	0	0	0	1	0	18	75				
MUC4	4585	broad.mit.edu	37	3	195509717	195509717	+	Missense_Mutation	SNP	G	G	T	rs201054395		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:195509717G>T	ENST00000463781.3	-	2	9193	c.8734C>A	c.(8734-8736)Cct>Act	p.P2912T	MUC4_ENST00000475231.1_Missense_Mutation_p.P2912T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACAGGAAGAGGCGTGGTGTCA	0.587																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(8734-8736)Cct>Act		mucin 4, cell surface associated							13.0	9.0	11.0					3																	195509717		673	1527	2200	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195509717G>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8734C>A	3.37:g.195509717G>T	ENSP00000417498:p.Pro2912Thr					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2912T	p.P2912T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	9193	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	662					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.8734C>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	4.766	0.142394	0.09083	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30981	1.53;1.51	.	.	.	.	.	.	.	.	T	0.15435	0.0372	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.04013	0.001	T	0.29088	-1.0023	7	.	.	.	.	4.6597	0.12636	0.0:0.0:1.0:0.0	.	2784	E7ESK3	.	T	2912	ENSP00000417498:P2912T;ENSP00000420243:P2912T	.	P	-	1	0	MUC4	196994496	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.018000	0.12568	-0.000000	0.14550	0.000000	0.15137	CCT		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	17	1	0	3.59834e-05	1	3.8264e-05	3	17				
MUC5B	727897	broad.mit.edu	37	11	1268340	1268340	+	Silent	SNP	A	A	T	rs368194612		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:1268340A>T	ENST00000529681.1	+	31	10288	c.10230A>T	c.(10228-10230)ccA>ccT	p.P3410P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P3413P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3410	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		cctcaactccagggacaactc	0.637																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10237-10239)ccA>ccT		mucin 5B, oligomeric mucus/gel-forming							148.0	179.0	169.0					11																	1268340		2112	4168	6280	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268340A>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10230A>T	11.37:g.1268340A>T						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P3410P	p.P3413P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10297	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3410	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.10239A>T	CCDS44515.2																																																																																				0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	28	0	0	0	1	0	3	28				
PREPL	9581	broad.mit.edu	37	2	44586652	44586652	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:44586652C>T	ENST00000409936.1	-	2	640	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	PREPL_ENST00000378520.3_Missense_Mutation_p.R68Q|CAMKMT_ENST00000407131.1_5'Flank|CAMKMT_ENST00000378494.3_5'Flank|PREPL_ENST00000409411.1_Intron|CAMKMT_ENST00000402247.1_5'Flank|PREPL_ENST00000409957.1_Intron|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000541738.1_Intron|CAMKMT_ENST00000403853.3_5'Flank|PREPL_ENST00000378511.3_Missense_Mutation_p.R68Q|PREPL_ENST00000409272.1_Missense_Mutation_p.R68Q|PREPL_ENST00000410081.1_Missense_Mutation_p.R68Q|PREPL_ENST00000260648.6_Missense_Mutation_p.R68Q	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	68						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGAGAAGCTCCGACTTGGGAT	0.308																																						ENST00000409936.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33						c.(202-204)cGg>cAg		prolyl endopeptidase-like							137.0	138.0	137.0					2																	44586652		2203	4300	6503	SO:0001583	missense	9581				proteolysis	cytosol	serine-type endopeptidase activity	g.chr2:44586652C>T	AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.203G>A	2.37:g.44586652C>T	ENSP00000386543:p.Arg68Gln					PREPL_ENST00000409957.1_Intron|PREPL_ENST00000409411.1_Intron|PREPL_ENST00000409272.1_Missense_Mutation_p.R68Q|PREPL_ENST00000260648.6_Missense_Mutation_p.R68Q|PREPL_ENST00000378511.3_Missense_Mutation_p.R68Q|PREPL_ENST00000378520.3_Missense_Mutation_p.R68Q|PREPL_ENST00000541738.1_Intron|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000410081.1_Missense_Mutation_p.R68Q	p.R68Q	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN			2	640	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	68					A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	ENST00000409936.1	37	c.203G>A	CCDS33190.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400937	0.83120	.	.	ENSG00000138078	ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511;ENST00000438314	.	.	.	5.27	4.38	0.52667	.	0.251803	0.28409	N	0.015459	T	0.48370	0.1496	N	0.08118	0	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;P	0.77557	0.975;0.99;0.846	T	0.42085	-0.9472	9	0.30854	T	0.27	-13.6207	10.0499	0.42210	0.0:0.907:0.0:0.093	.	68;68;68	Q4J6C6-3;Q4J6C6-2;Q4J6C6	.;.;PPCEL_HUMAN	Q	68	.	ENSP00000260648:R68Q	R	-	2	0	PREPL	44440156	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.885000	0.39678	2.735000	0.93741	0.655000	0.94253	CGG		0.308	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036		110	573	0	0	0	1	0	110	573				
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G	rs376401117	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522													.|||	3	0.000599042	0.0	0.0	5008	,	,		19711	0.002		0.0	False		,,,				2504	0.001					ENST00000449207.2																			0				lung(2)|ovary(2)|stomach(1)	5						c.(1159-1161)Atg>Ctg		PR domain containing 7		T	LEU/MET,	0,3874		0,0,1937	115.0	114.0	115.0		1159,	2.2	1.0	16		115	1,8265		0,1,4132	no	missense,intron	PRDM7	NM_001098173.1,NM_052996.2	15,	0,1,6069	GG,GT,TT		0.0121,0.0,0.0082	benign,	387/493,	90126823	1,12139	1937	4133	6070	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90126823T>G	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1159A>C	16.37:g.90126823T>G	ENSP00000396732:p.Met387Leu					PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron	p.M387L	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	9	1178	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	387					A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.1159A>C	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	7.534	0.659380	0.14645	0.0	1.21E-4	ENSG00000126856	ENST00000449207	T	0.10960	2.82	2.22	2.22	0.28083	.	.	.	.	.	T	0.05364	0.0142	N	0.14661	0.345	0.80722	D	1	B	0.13594	0.008	B	0.04013	0.001	T	0.34700	-0.9818	8	.	.	.	-8.2214	6.7211	0.23330	0.0:0.0:0.0:1.0	.	387	Q9NQW5	PRDM7_HUMAN	L	387	ENSP00000396732:M387L	.	M	-	1	0	PRDM7	88654324	0.994000	0.37717	0.991000	0.47740	0.589000	0.36550	3.111000	0.50360	0.995000	0.38917	0.392000	0.25879	ATG		0.522	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			4	306	0	0	0	1	0	4	306				
ZHX2	22882	broad.mit.edu	37	8	123965170	123965170	+	Missense_Mutation	SNP	G	G	A	rs374724083		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr8:123965170G>A	ENST00000314393.4	+	3	2255	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	474	Required for interaction with NFYA.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCGGCTCATCGAGGTGACTGG	0.557																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(1420-1422)Gag>Aag		zinc fingers and homeoboxes 2		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	87.0	86.0	87.0		1420	5.1	1.0	8		87	0,8600		0,0,4300	no	missense	ZHX2	NM_014943.3	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	474/838	123965170	1,13005	2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123965170G>A	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1420G>A	8.37:g.123965170G>A	ENSP00000314709:p.Glu474Lys						p.E474K	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2255	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		474			Required for interaction with NFYA.			Missense_Mutation	SNP	ENST00000314393.4	37	c.1420G>A	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765980	0.31228	2.27E-4	0.0	ENSG00000178764	ENST00000314393	D	0.95949	-3.86	5.94	5.07	0.68467	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.102570	0.64402	D	0.000003	D	0.90106	0.6909	N	0.21448	0.665	0.80722	D	1	B	0.24043	0.096	B	0.20577	0.03	D	0.86463	0.1780	10	0.09843	T	0.71	-24.8951	15.4187	0.74995	0.0667:0.0:0.9333:0.0	.	474	Q9Y6X8	ZHX2_HUMAN	K	474	ENSP00000314709:E474K	ENSP00000314709:E474K	E	+	1	0	ZHX2	124034351	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	7.641000	0.83368	1.531000	0.49152	0.561000	0.74099	GAG		0.557	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		5	175	0	0	0	1	0	5	175				
IGHV4-28	28400	broad.mit.edu	37	14	106780960	106780960	+	RNA	SNP	G	G	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr14:106780960G>T	ENST00000390612.2	-	0	57									immunoglobulin heavy variable 4-28																		TTGCACAGGAGGTCCAGGACT	0.498																																						ENST00000390612.2																			0																				50.0	55.0	53.0					14																	106780960		1890	4092	5982			0							g.chr14:106780960G>T	X05714		14q32.33	2012-02-08			ENSG00000211952	ENSG00000211952		"""Immunoglobulins / IGH locus"""	5645	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152062		14.37:g.106780960G>T														0	57	-									RNA	SNP	ENST00000390612.2	37																																																																																						0.498	IGHV4-28-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325156.1	NG_001019		4	145	1	0	0.00024832	1	0.000260391	4	145				
IL1RL2	8808	broad.mit.edu	37	2	102851439	102851439	+	Silent	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:102851439C>T	ENST00000264257.2	+	11	1506	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G	IL1RL2_ENST00000441515.2_Silent_p.G342G|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.G460G	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	460	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TGGGCTTTGGCCTGTTGAAGA	0.488																																						ENST00000264257.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(1378-1380)ggC>ggT		interleukin 1 receptor-like 2							110.0	106.0	107.0					2																	102851439		2203	4300	6503	SO:0001819	synonymous_variant	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102851439C>T	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1380C>T	2.37:g.102851439C>T						IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.G460G|IL1RL2_ENST00000441515.2_Silent_p.G342G	p.G460G	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN			11	1506	+			460			TIR.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	ENST00000264257.2	37	c.1380C>T	CCDS2056.1																																																																																				0.488	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		5	250	0	0	0	1	0	5	250				
TUBA4B	80086	broad.mit.edu	37	2	220136438	220136438	+	RNA	SNP	C	C	T	rs186544422		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:220136438C>T	ENST00000490341.1	+	0	908					NR_003063.1		Q9H853	TBA4B_HUMAN	tubulin, alpha 4b (pseudogene)						microtubule-based process (GO:0007017)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|structural constituent of cytoskeleton (GO:0005200)										ATCCCCGGCACGGCAAGTACA	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		22750	0.001		0.0	False		,,,				2504	0.0					ENST00000490341.1																			0																																																			0							g.chr2:220136438C>T	AK024002		2q35	2014-03-20	2007-03-16	2007-02-12	ENSG00000243910	ENSG00000243910		"""Tubulins"""	18637	pseudogene	pseudogene			"""tubulin, alpha 4"", ""tubulin, alpha 4b"""	TUBA4		3785200	Standard	NR_003063		Approved	FLJ13940	uc002vkv.1	Q9H853	OTTHUMG00000154516		2.37:g.220136438C>T								NR_003063.1						0	908	+									RNA	SNP	ENST00000490341.1	37																																																																																						0.537	TUBA4B-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000335637.1	NR_003063		9	284	0	0	0	1	0	9	284				
KIRREL3	84623	broad.mit.edu	37	11	126432761	126432761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:126432761C>T	ENST00000525144.2	-	2	351	c.102G>A	c.(100-102)atG>atA	p.M34I	KIRREL3_ENST00000525704.2_Missense_Mutation_p.M34I|KIRREL3_ENST00000529097.2_Missense_Mutation_p.M34I|KIRREL3-AS1_ENST00000548204.1_RNA|KIRREL3_ENST00000533026.2_5'UTR	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	34					hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TGTCCTTGGCCATGTAGCCCA	0.547																																						ENST00000525144.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(100-102)atG>atA		kin of IRRE like 3 (Drosophila)							122.0	116.0	118.0					11																	126432761		1947	4141	6088	SO:0001583	missense	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126432761C>T	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.102G>A	11.37:g.126432761C>T	ENSP00000435466:p.Met34Ile					KIRREL3_ENST00000533026.2_5'UTR|KIRREL3-AS1_ENST00000548204.1_RNA|KIRREL3_ENST00000529097.2_Missense_Mutation_p.M34I|KIRREL3_ENST00000525704.2_Missense_Mutation_p.M34I	p.M34I	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	2	351	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	34					Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	c.102G>A	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017523	0.54576	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.70516	-0.49;-0.26;-0.35	5.62	5.62	0.85841	.	0.078542	0.53938	D	0.000046	T	0.54255	0.1847	N	0.08118	0	0.80722	D	1	B;B;B	0.26547	0.048;0.152;0.077	B;B;B	0.26614	0.025;0.071;0.019	T	0.52719	-0.8538	10	0.37606	T	0.19	.	17.8583	0.88773	0.0:1.0:0.0:0.0	.	34;34;34	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	I	34	ENSP00000435466:M34I;ENSP00000434081:M34I;ENSP00000435094:M34I	ENSP00000435466:M34I	M	-	3	0	KIRREL3	125937971	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.770000	0.62309	2.645000	0.89757	0.650000	0.86243	ATG		0.547	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		31	206	0	0	0	1	0	31	206				
NBPF3	84224	broad.mit.edu	37	1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:21806573A>G	ENST00000318249.5	+	11	1588	c.1238A>G	c.(1237-1239)gAg>gGg	p.E413G	NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318220.6_Missense_Mutation_p.E357G	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.E413G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1069-1071)gAg>gGg		neuroblastoma breakpoint family, member 3							38.0	29.0	33.0					1																	21806573		2167	3971	6138	SO:0001583	missense	84224					cytoplasm		g.chr1:21806573A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1238A>G	1.37:g.21806573A>G	ENSP00000316782:p.Glu413Gly					NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G	p.E357G			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2118	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	413			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1070A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.316	0.426410	0.11987	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	0.658	0.658	0.17855	DUF1220 (2);	.	.	.	.	T	0.12689	0.0308	L	0.37850	1.14	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.004	B;B;B	0.23150	0.044;0.001;0.008	T	0.31724	-0.9933	8	0.31617	T	0.26	.	.	.	.	.	343;401;413	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	G	343;357;413;401;357	ENSP00000415711:E343G;ENSP00000316739:E357G;ENSP00000316782:E413G;ENSP00000340336:E401G;ENSP00000391865:E357G	ENSP00000316739:E357G	E	+	2	0	NBPF3	21679160	0.005000	0.15991	0.004000	0.12327	0.308000	0.27856	0.130000	0.15850	0.565000	0.29255	0.102000	0.15555	GAG		0.463	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		5	252	0	0	0	1	0	5	252				
CHGA	1113	broad.mit.edu	37	14	93396099	93396099	+	Missense_Mutation	SNP	C	C	A	rs150929444	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr14:93396099C>A	ENST00000216492.5	+	5	574	c.294C>A	c.(292-294)agC>agA	p.S98R	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Missense_Mutation_p.S98R	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	98					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AGAAACACAGCGGTTTTGAAG	0.542																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(292-294)agC>agA		chromogranin A (parathyroid secretory protein 1)							73.0	73.0	73.0					14																	93396099		2203	4300	6503	SO:0001583	missense	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93396099C>A		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.294C>A	14.37:g.93396099C>A	ENSP00000216492:p.Ser98Arg					CHGA_ENST00000334654.4_Missense_Mutation_p.S98R|CHGA_ENST00000553866.1_3'UTR	p.S98R	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	5	574	+		all_cancers(154;0.0843)	98					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Missense_Mutation	SNP	ENST00000216492.5	37	c.294C>A	CCDS9906.1	.	.	.	.	.	.	.	.	.	.	C	8.843	0.942786	0.18281	.	.	ENSG00000100604	ENST00000216492;ENST00000334654	T;T	0.07021	4.56;3.23	4.78	1.53	0.23141	.	0.334049	0.33382	N	0.004968	T	0.09468	0.0233	L	0.53249	1.67	0.09310	N	0.999998	B;P	0.36162	0.057;0.54	B;B	0.40677	0.028;0.337	T	0.14392	-1.0474	10	0.41790	T	0.15	-6.3264	5.9182	0.19067	0.1371:0.545:0.0:0.3179	.	98;98	G5E968;P10645	.;CMGA_HUMAN	R	98	ENSP00000216492:S98R;ENSP00000334023:S98R	ENSP00000216492:S98R	S	+	3	2	CHGA	92465852	0.008000	0.16893	0.012000	0.15200	0.675000	0.39556	0.091000	0.15046	0.466000	0.27193	-0.221000	0.12465	AGC		0.542	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		19	197	1	0	1.56452e-12	1	1.69959e-12	19	197				
SLC47A1	55244	broad.mit.edu	37	17	19458922	19458922	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:19458922A>G	ENST00000270570.4	+	8	744	c.658A>G	c.(658-660)Aac>Gac	p.N220D	SLC47A1_ENST00000457293.1_Missense_Mutation_p.N220D|SLC47A1_ENST00000575023.1_Intron|SNORA59B_ENST00000458926.1_RNA|SLC47A1_ENST00000395585.1_Missense_Mutation_p.N220D|SLC47A1_ENST00000436810.2_Missense_Mutation_p.N197D|SLC47A1_ENST00000542886.1_Missense_Mutation_p.K187R|SLC47A1_ENST00000571335.1_Intron	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	220					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	TGCACTGGCAAACTTGATTTC	0.527																																						ENST00000270570.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(658-660)Aac>Gac		solute carrier family 47 (multidrug and toxin extrusion), member 1							119.0	112.0	115.0					17																	19458922		2203	4300	6503	SO:0001583	missense	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19458922A>G		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.658A>G	17.37:g.19458922A>G	ENSP00000270570:p.Asn220Asp					SLC47A1_ENST00000457293.1_Missense_Mutation_p.N220D|SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000395585.1_Missense_Mutation_p.N220D|SLC47A1_ENST00000542886.1_Missense_Mutation_p.K187R|SLC47A1_ENST00000436810.2_Missense_Mutation_p.N197D|SLC47A1_ENST00000575023.1_Intron	p.N220D	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN			8	744	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		220					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	37	c.658A>G	CCDS11209.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.34|14.34	2.506537|2.506537	0.44558|0.44558	.|.	.|.	ENSG00000142494|ENSG00000142494	ENST00000542886|ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585	.|T;T;T;T	.|0.32272	.|1.51;1.46;1.46;1.46	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.082064	.|0.85682	.|D	.|0.000000	T|T	0.50257|0.50257	0.1605|0.1605	H|H	0.95260|0.95260	3.645|3.645	0.32301|0.32301	N|N	0.565074|0.565074	.|B;B;B	.|0.33238	.|0.403;0.059;0.04	.|B;B;B	.|0.34873	.|0.191;0.067;0.078	T|T	0.69109|0.69109	-0.5232|-0.5232	6|10	0.14656|0.66056	T|D	0.56|0.02	-5.1336|-5.1336	14.5405|14.5405	0.67990|0.67990	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|197;220;220	.|E7EX57;Q96FL8;Q96FL8-3	.|.;S47A1_HUMAN;.	R|D	187|197;220;220;220	.|ENSP00000407155:N197D;ENSP00000270570:N220D;ENSP00000415586:N220D;ENSP00000378951:N220D	ENSP00000440435:K187R|ENSP00000270570:N220D	K|N	+|+	2|1	0|0	SLC47A1|SLC47A1	19399514|19399514	1.000000|1.000000	0.71417|0.71417	0.729000|0.729000	0.30791|0.30791	0.302000|0.302000	0.27658|0.27658	6.624000|6.624000	0.74243|0.74243	2.036000|2.036000	0.60181|0.60181	0.529000|0.529000	0.55759|0.55759	AAA|AAC		0.527	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		71	200	0	0	0	1	0	71	200				
ARHGAP20	57569	broad.mit.edu	37	11	110451075	110451075	+	Silent	SNP	T	T	C			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:110451075T>C	ENST00000260283.4	-	16	2879	c.2595A>G	c.(2593-2595)tcA>tcG	p.S865S	ARHGAP20_ENST00000524756.1_Silent_p.S842S|ARHGAP20_ENST00000528829.1_Silent_p.S829S|ARHGAP20_ENST00000529591.1_Silent_p.S408S|ARHGAP20_ENST00000357139.3_Silent_p.S839S|ARHGAP20_ENST00000533353.1_Silent_p.S839S|ARHGAP20_ENST00000527598.1_Silent_p.S829S	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	865					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GTTGTTTCTTTGAATAAATTC	0.493																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(2593-2595)tcA>tcG		Rho GTPase activating protein 20							108.0	107.0	107.0					11																	110451075		2201	4298	6499	SO:0001819	synonymous_variant	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110451075T>C	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2595A>G	11.37:g.110451075T>C						ARHGAP20_ENST00000529591.1_Silent_p.S408S|ARHGAP20_ENST00000528829.1_Silent_p.S829S|ARHGAP20_ENST00000524756.1_Silent_p.S842S|ARHGAP20_ENST00000527598.1_Silent_p.S829S|ARHGAP20_ENST00000533353.1_Silent_p.S839S|ARHGAP20_ENST00000357139.3_Silent_p.S839S	p.S865S	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	16	2879	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	865					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Silent	SNP	ENST00000260283.4	37	c.2595A>G	CCDS31673.1																																																																																				0.493	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		108	476	0	0	0	1	0	108	476				
TDRD5	163589	broad.mit.edu	37	1	179604922	179604922	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:179604922G>T	ENST00000367614.1	+	9	1779	c.1420G>T	c.(1420-1422)Ggg>Tgg	p.G474W	TDRD5_ENST00000444136.1_Missense_Mutation_p.G474W|TDRD5_ENST00000294848.8_Missense_Mutation_p.G474W	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	474					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTCCCTCATAGGGGTCTTTGT	0.463																																						ENST00000444136.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(1420-1422)Ggg>Tgg		tudor domain containing 5							100.0	94.0	96.0					1																	179604922		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179604922G>T	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1420G>T	1.37:g.179604922G>T	ENSP00000356586:p.Gly474Trp					TDRD5_ENST00000294848.8_Missense_Mutation_p.G474W|TDRD5_ENST00000367614.1_Missense_Mutation_p.G474W	p.G474W	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			9	1670	+			474					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.1420G>T	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058568	0.76074	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.09723	2.95;2.95;2.95	4.94	4.94	0.65067	Maternal tudor protein (1);	0.299142	0.33272	N	0.005083	T	0.28797	0.0714	L	0.52011	1.625	0.46203	D	0.998927	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01309	-1.1389	10	0.72032	D	0.01	-19.4684	16.7233	0.85415	0.0:0.0:1.0:0.0	.	474;474	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	W	474	ENSP00000356586:G474W;ENSP00000294848:G474W;ENSP00000406052:G474W	ENSP00000294848:G474W	G	+	1	0	TDRD5	177871545	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.639000	0.74314	2.279000	0.76181	0.585000	0.79938	GGG		0.463	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		33	243	1	0	1.06647e-15	1	1.16694e-15	33	243				
ASB18	401036	broad.mit.edu	37	2	237172977	237172977	+	Silent	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:237172977C>T	ENST00000409749.3	-	1	11	c.12G>A	c.(10-12)tcG>tcA	p.S4S	AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	4					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GAAGGTAATCCGAGTTGGACA	0.493																																						ENST00000409749.3																			0				large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6						c.(10-12)tcG>tcA		ankyrin repeat and SOCS box containing 18							108.0	102.0	104.0					2																	237172977		1994	4170	6164	SO:0001819	synonymous_variant	401036				intracellular signal transduction			g.chr2:237172977C>T	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"""Ankyrin repeat domain containing"""	19770	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 18"""			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.12G>A	2.37:g.237172977C>T						AC079135.1_ENST00000415226.1_RNA	p.S4S	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)	1	11	-		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)	4					B6ZDL7	Silent	SNP	ENST00000409749.3	37	c.12G>A	CCDS46548.1																																																																																				0.493	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		5	214	0	0	0	1	0	5	214				
TRIM42	287015	broad.mit.edu	37	3	140407107	140407107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:140407107G>A	ENST00000286349.3	+	3	1774	c.1583G>A	c.(1582-1584)gGc>gAc	p.G528D		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	528						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CACAGCCTCGGCAACCAGCAC	0.577																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1582-1584)gGc>gAc		tripartite motif containing 42							96.0	89.0	91.0					3																	140407107		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140407107G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1583G>A	3.37:g.140407107G>A	ENSP00000286349:p.Gly528Asp						p.G528D	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			3	1774	+			528					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.1583G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	6.665	0.491250	0.12702	.	.	ENSG00000155890	ENST00000286349	T	0.36699	1.24	5.52	-4.17	0.03857	.	0.998540	0.08106	N	0.996959	T	0.15998	0.0385	N	0.24115	0.695	0.09310	N	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.30736	-0.9968	10	0.10111	T	0.7	-11.6821	1.9929	0.03450	0.3788:0.1671:0.3411:0.113	.	528	Q8IWZ5	TRI42_HUMAN	D	528	ENSP00000286349:G528D	ENSP00000286349:G528D	G	+	2	0	TRIM42	141889797	0.000000	0.05858	0.007000	0.13788	0.846000	0.48090	-0.386000	0.07370	-0.646000	0.05452	0.655000	0.94253	GGC		0.577	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		6	427	0	0	0	1	0	6	427				
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs200454029	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr13:52864028C>T	ENST00000451298.1	-	0	141																											TAGAATGATACTCCAAAGGAA	0.313																																						ENST00000451298.1																			0																																																			0							g.chr13:52864028C>T																													13.37:g.52864028C>T						RP11-64P12.8_ENST00000606031.1_RNA								0	141	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			4	168	0	0	0	1	0	4	168				
PRAMENP	649179	broad.mit.edu	37	22	22385750	22385750	+	RNA	SNP	A	A	G			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr22:22385750A>G	ENST00000337471.4	-	0	253				IGLV4-69_ENST00000390282.2_RNA					PRAME N-terminal-like, pseudogene																		AGCAAGGGGGACGGGATCCCT	0.592																																						ENST00000390282.2																			0																				76.0	81.0	80.0					22																	22385750		2059	4200	6259			0							g.chr22:22385750A>G			22q11.22	2013-09-27	2013-09-27	2013-09-27	ENSG00000197549	ENSG00000197549		"""-"""	34302	pseudogene	pseudogene			"""preferentially expressed antigen in melanoma-like"", ""PRAME family member 24, pseudogene"""	PRAMEL, PRAMEF24P			Standard	XR_425303		Approved	FLJ16327			OTTHUMG00000150836		22.37:g.22385750A>G						PRAMEF24P_ENST00000337471.4_RNA								0	299	+									RNA	SNP	ENST00000337471.4	37																																																																																						0.592	PRAMENP-001	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000320276.2			4	286	0	0	0	1	0	4	286				
CLCNKB	1188	broad.mit.edu	37	1	16374889	16374889	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:16374889C>T	ENST00000375679.4	+	6	661	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	CLCNKB_ENST00000375667.3_5'Flank	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	184					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCGTGTGCGCACCACGAC	0.662																																						ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21						c.(550-552)Cgc>Tgc		chloride channel, voltage-sensitive Kb							57.0	57.0	57.0					1																	16374889		2203	4300	6503	SO:0001583	missense	1188							g.chr1:16374889C>T	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.550C>T	1.37:g.16374889C>T	ENSP00000364831:p.Arg184Cys						p.R184C	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	6	661	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	c.550C>T	CCDS168.1	.	.	.	.	.	.	.	.	.	.	c	18.37	3.608384	0.66558	.	.	ENSG00000184908	ENST00000375679;ENST00000331579	D	0.92911	-3.13	4.68	3.69	0.42338	Chloride channel, core (2);	0.349083	0.30649	N	0.009166	D	0.86456	0.5937	L	0.38649	1.16	0.80722	D	1	B	0.20052	0.041	B	0.21151	0.033	D	0.84245	0.0474	10	0.87932	D	0	.	8.4362	0.32789	0.2762:0.5817:0.1421:0.0	.	184	P51801	CLCKB_HUMAN	C	184	ENSP00000364831:R184C	ENSP00000332055:R184C	R	+	1	0	CLCNKB	16247476	1.000000	0.71417	0.627000	0.29227	0.928000	0.56348	2.311000	0.43717	2.139000	0.66308	0.655000	0.94253	CGC		0.662	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		4	141	0	0	0	1	0	4	141				
GRID2	2895	broad.mit.edu	37	4	94376915	94376915	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr4:94376915C>T	ENST00000282020.4	+	11	1906	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*	GRID2_ENST00000510992.1_Nonsense_Mutation_p.R455*	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	550					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GGTACTACTTCGAAGGGCTGA	0.478																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1648-1650)Cga>Tga		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						196.0	171.0	180.0					4																	94376915		2203	4300	6503	SO:0001587	stop_gained	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94376915C>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1648C>T	4.37:g.94376915C>T	ENSP00000282020:p.Arg550*					GRID2_ENST00000510992.1_Nonsense_Mutation_p.R455*	p.R550*	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	11	1906	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	550					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Nonsense_Mutation	SNP	ENST00000282020.4	37	c.1648C>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	41	9.088102	0.99061	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1877	0.73016	0.1408:0.8592:0.0:0.0	.	.	.	.	X	550;455	.	ENSP00000282020:R550X	R	+	1	2	GRID2	94595938	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.461000	0.53035	2.836000	0.97738	0.655000	0.94253	CGA		0.478	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			13	375	0	0	0	1	0	13	375				
DPAGT1	1798	broad.mit.edu	37	11	118972344	118972344	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:118972344G>A	ENST00000409993.2	-	3	1573	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	DPAGT1_ENST00000432443.2_5'UTR|DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Missense_Mutation_p.P8S			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	8					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		AGCGGCATGGGCAATTCCGAG	0.632											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000409993.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17						c.(22-24)Ccc>Tcc		dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)							63.0	65.0	64.0					11																	118972344		2200	4295	6495	SO:0001583	missense	1798				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	g.chr11:118972344G>A	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.22C>T	11.37:g.118972344G>A	ENSP00000386597:p.Pro8Ser		OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000432443.2_5'UTR|DPAGT1_ENST00000354202.4_Missense_Mutation_p.P8S	p.P8S			Q9H3H5	GPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	3	1573	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	8					O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	c.22C>T	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884783	0.51908	.	.	ENSG00000172269	ENST00000409993;ENST00000354202	D;D	0.91011	-2.77;-2.77	4.79	3.87	0.44632	.	0.000000	0.85682	D	0.000000	T	0.80628	0.4659	N	0.19112	0.55	0.80722	D	1	P	0.35174	0.488	B	0.27380	0.079	T	0.78725	-0.2092	10	0.27082	T	0.32	-2.6285	12.3966	0.55389	0.0:0.0:0.8312:0.1688	.	8	Q9H3H5	GPT_HUMAN	S	8	ENSP00000386597:P8S;ENSP00000346142:P8S	ENSP00000346142:P8S	P	-	1	0	DPAGT1	118477554	.	.	0.973000	0.42090	0.691000	0.40173	.	.	1.602000	0.50124	0.655000	0.94253	CCC		0.632	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		5	287	0	0	0	1	0	5	287				
C10orf105	414152	broad.mit.edu	37	10	73492028	73492028	+	Intron	SNP	C	C	T	rs373276722	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:73492028C>T	ENST00000398786.2	-	1	97				CDH23_ENST00000224721.6_Missense_Mutation_p.R1339W	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											TGAGATTGTGCGGGTCCAGGC	0.562													C|||	3	0.000599042	0.0008	0.0029	5008	,	,		21644	0.0		0.0	False		,,,				2504	0.0					ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(4015-4017)Cgg>Tgg		cadherin-related 23		C	TRP/ARG,TRP/ARG,	1,4113		0,1,2056	69.0	70.0	70.0		4000,4000,	3.8	1.0	10		70	0,8408		0,0,4204	no	missense,missense,intron	CDH23,C10orf105	NM_001171930.1,NM_022124.5,NM_001168390.1	101,101,	0,1,6260	TT,TC,CC		0.0,0.0243,0.0080	probably-damaging,probably-damaging,	1334/1382,1334/3355,	73492028	1,12521	2057	4204	6261	SO:0001627	intron_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73492028C>T	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000398786.2:c.4+5456G>A	10.37:g.73492028C>T						C10orf105_ENST00000398786.2_Intron	p.R1339W	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			31	4020	+			1334			Cadherin 13.			Missense_Mutation	SNP	ENST00000398786.2	37	c.4015C>T	CCDS44430.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826680	0.90955	2.43E-4	0.0	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398792	.	.	.	4.81	3.83	0.44106	Cadherin (3);Cadherin-like (1);	0.069495	0.64402	D	0.000014	T	0.76140	0.3946	M	0.78049	2.395	0.80722	D	1	D;D;D	0.69078	0.995;0.989;0.997	P;P;P	0.61722	0.873;0.776;0.893	T	0.79838	-0.1634	9	0.66056	D	0.02	.	15.0962	0.72235	0.1418:0.8581:0.0:0.0	.	155;1334;1334	E7ERT0;Q6P152;Q9H251	.;.;CAD23_HUMAN	W	1339;1334;1337;155	.	ENSP00000224721:R1339W	R	+	1	2	CDH23	73162034	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.930000	0.48924	2.654000	0.90174	0.561000	0.74099	CGG		0.562	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		4	100	0	0	0	1	0	4	100				
ADAMTS12	81792	broad.mit.edu	37	5	33596156	33596156	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr5:33596156C>T	ENST00000504830.1	-	17	2872	c.2537G>A	c.(2536-2538)cGc>cAc	p.R846H	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R761H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	846	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R846H(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGCAGTTTGGCGGCGGATACC	0.517										HNSCC(64;0.19)																												ENST00000504830.1																			1	Substitution - Missense(1)	p.R846H(1)	lung(1)	NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(2536-2538)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 12							120.0	110.0	113.0					5																	33596156		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33596156C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2537G>A	5.37:g.33596156C>T	ENSP00000422554:p.Arg846His	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R761H|ADAMTS12_ENST00000504582.1_5'UTR	p.R846H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			17	2872	-			846			TSP type-1 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2537G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010730	0.75046	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.52983	0.64;0.64	5.77	4.9	0.64082	.	0.196715	0.50627	D	0.000112	T	0.49541	0.1563	L	0.55990	1.75	0.80722	D	1	P;P	0.52577	0.463;0.954	B;P	0.48552	0.067;0.581	T	0.43442	-0.9391	10	0.16420	T	0.52	.	15.3406	0.74293	0.0:0.9327:0.0:0.0673	.	761;846	P58397-3;P58397	.;ATS12_HUMAN	H	846;761	ENSP00000422554:R846H;ENSP00000344847:R761H	ENSP00000344847:R761H	R	-	2	0	ADAMTS12	33631913	0.994000	0.37717	0.987000	0.45799	0.998000	0.95712	2.459000	0.45023	1.582000	0.49881	0.585000	0.79938	CGC		0.517	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		52	334	0	0	0	1	0	52	334				
TUBBP5	643224	broad.mit.edu	37	9	141070915	141070915	+	RNA	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:141070915C>T	ENST00000503395.1	+	0	1690									tubulin, beta pseudogene 5									p.T178T(1)									TGTCAGACACCGTGGTGGAGC	0.522																																						ENST00000503395.1																			1	Substitution - coding silent(1)	p.T178T(1)	prostate(1)																																																0							g.chr9:141070915C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070915C>T														0	1690	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.522	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		10	235	0	0	0	1	0	10	235				
EFTUD2	9343	broad.mit.edu	37	17	42928694	42928694	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:42928694G>T	ENST00000426333.2	-	28	3164	c.2867C>A	c.(2866-2868)cCt>cAt	p.P956H	EFTUD2_ENST00000592576.1_Missense_Mutation_p.P946H|EFTUD2_ENST00000591382.1_Missense_Mutation_p.P956H|EFTUD2_ENST00000402521.3_Missense_Mutation_p.P921H	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	956					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CAGCAACATAGGATCATCGAA	0.522																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(2866-2868)cCt>cAt		elongation factor Tu GTP binding domain containing 2							197.0	171.0	180.0					17																	42928694		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42928694G>T	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2867C>A	17.37:g.42928694G>T	ENSP00000392094:p.Pro956His					EFTUD2_ENST00000402521.3_Missense_Mutation_p.P921H|EFTUD2_ENST00000592576.1_Missense_Mutation_p.P946H|EFTUD2_ENST00000591382.1_Missense_Mutation_p.P956H	p.P956H	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			28	3164	-		Prostate(33;0.109)	956					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.2867C>A	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195069	0.94960	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.71103	-0.53;-0.54	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.86293	0.5898	M	0.87758	2.905	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.65773	0.938;0.938	D	0.87972	0.2737	10	0.72032	D	0.01	-13.7718	19.7014	0.96054	0.0:0.0:1.0:0.0	.	946;956	B4DMC0;Q15029	.;U5S1_HUMAN	H	956;946;921	ENSP00000392094:P956H;ENSP00000385873:P921H	ENSP00000262414:P946H	P	-	2	0	EFTUD2	40284220	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.277000	0.95755	2.660000	0.90430	0.563000	0.77884	CCT		0.522	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		85	519	1	0	1.68737e-39	1	1.87347e-39	85	519				
SEL1L	6400	broad.mit.edu	37	14	81950645	81950645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr14:81950645G>A	ENST00000336735.4	-	19	2086	c.1970C>T	c.(1969-1971)gCt>gTt	p.A657V		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	657	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CTGCTCAGAAGCCAGACGGTA	0.428																																						ENST00000336735.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28						c.(1969-1971)gCt>gTt		sel-1 suppressor of lin-12-like (C. elegans)							253.0	246.0	249.0					14																	81950645		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81950645G>A		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.1970C>T	14.37:g.81950645G>A	ENSP00000337053:p.Ala657Val						p.A657V	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	19	2086	-			657			Interaction with ERLEC1, OS9 and SYVN1.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.1970C>T	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	G	36	5.610409	0.96637	.	.	ENSG00000071537	ENST00000336735;ENST00000261258	T	0.65178	-0.14	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.85191	0.5640	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87620	0.2509	10	0.87932	D	0	.	20.3167	0.98654	0.0:0.0:1.0:0.0	.	657	Q9UBV2	SE1L1_HUMAN	V	657;18	ENSP00000337053:A657V	ENSP00000261258:A18V	A	-	2	0	SEL1L	81020398	1.000000	0.71417	0.916000	0.36221	0.980000	0.70556	9.335000	0.96500	2.809000	0.96659	0.557000	0.71058	GCT		0.428	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		46	1225	0	0	0	1	0	46	1225				
WSCD1	23302	broad.mit.edu	37	17	6023840	6023840	+	Silent	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:6023840G>A	ENST00000574946.1	+	9	1977	c.1587G>A	c.(1585-1587)cgG>cgA	p.R529R	WSCD1_ENST00000539421.1_Silent_p.R529R|WSCD1_ENST00000573634.1_Silent_p.R413R|WSCD1_ENST00000317744.5_Silent_p.R529R|WSCD1_ENST00000574232.1_Silent_p.R529R			Q658N2	WSCD1_HUMAN	WSC domain containing 1	529						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GCAGCTTCCGGCGGCGCGGCC	0.647																																						ENST00000574946.1																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(1585-1587)cgG>cgA		WSC domain containing 1							58.0	60.0	59.0					17																	6023840		2202	4300	6502	SO:0001819	synonymous_variant	23302					integral to membrane	sulfotransferase activity	g.chr17:6023840G>A		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1587G>A	17.37:g.6023840G>A						WSCD1_ENST00000573634.1_Silent_p.R413R|WSCD1_ENST00000574232.1_Silent_p.R529R|WSCD1_ENST00000539421.1_Silent_p.R529R|WSCD1_ENST00000317744.5_Silent_p.R529R	p.R529R			Q658N2	WSCD1_HUMAN			9	1977	+			529					A8K0N8|D3DTM3|O60276|Q96G45	Silent	SNP	ENST00000574946.1	37	c.1587G>A	CCDS32538.1																																																																																				0.647	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		65	168	0	0	0	1	0	65	168				
ENPP7	339221	broad.mit.edu	37	17	77709028	77709028	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:77709028G>A	ENST00000328313.5	+	3	807	c.586G>A	c.(586-588)Ggg>Agg	p.G196R		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ACTCTACTTCGGGGAGCCGGA	0.627																																						ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(586-588)Ggg>Agg		ectonucleotide pyrophosphatase/phosphodiesterase 7							63.0	52.0	56.0					17																	77709028		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77709028G>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.586G>A	17.37:g.77709028G>A	ENSP00000332656:p.Gly196Arg						p.G196R	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	807	+			196						Missense_Mutation	SNP	ENST00000328313.5	37	c.586G>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179033	0.57692	.	.	ENSG00000182156	ENST00000328313	T	0.71698	-0.59	4.75	3.76	0.43208	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.058821	0.64402	D	0.000002	T	0.72350	0.3449	L	0.60845	1.875	0.80722	D	1	D	0.58620	0.983	P	0.49451	0.611	T	0.72950	-0.4136	10	0.42905	T	0.14	-33.0178	14.1159	0.65154	0.0:0.0:0.8483:0.1517	.	196	Q6UWV6	ENPP7_HUMAN	R	196	ENSP00000332656:G196R	ENSP00000332656:G196R	G	+	1	0	ENPP7	75323623	1.000000	0.71417	0.978000	0.43139	0.346000	0.29079	7.909000	0.87444	0.962000	0.38057	0.591000	0.81541	GGG		0.627	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		5	158	0	0	0	1	0	5	158				
TSSC2	650368	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002									tumor suppressing subtransferable candidate 2 pseudogene																		AGCTTCACAGATCCACCGCTG	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427885A>G			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427885A>G														0	1002	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			6	70	0	0	0	1	0	6	70				
C10orf82	143379	broad.mit.edu	37	10	118425205	118425205	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:118425205G>C	ENST00000369210.3	-	3	242	c.188C>G	c.(187-189)gCc>gGc	p.A63G	C10orf82_ENST00000588184.1_Missense_Mutation_p.A63G	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	63										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CAGTTTCGGGGCAGTGGCCAC	0.562																																						ENST00000369210.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(187-189)gCc>gGc		chromosome 10 open reading frame 82							116.0	106.0	109.0					10																	118425205		2203	4300	6503	SO:0001583	missense	143379							g.chr10:118425205G>C	BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.188C>G	10.37:g.118425205G>C	ENSP00000358212:p.Ala63Gly					C10orf82_ENST00000588184.1_Missense_Mutation_p.A63G	p.A63G	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN		all cancers(201;0.0143)	3	242	-			63					B3KUM9|D3DRC3	Missense_Mutation	SNP	ENST00000369210.3	37	c.188C>G	CCDS7596.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146601	0.57044	.	.	ENSG00000165863	ENST00000369210;ENST00000388884	T	0.64260	-0.09	5.16	4.25	0.50352	.	0.715143	0.13142	N	0.410531	T	0.66015	0.2747	M	0.65975	2.015	0.09310	N	1	P;D	0.56521	0.884;0.976	B;P	0.49085	0.42;0.6	T	0.57106	-0.7868	10	0.49607	T	0.09	-4.1516	9.7479	0.40457	0.096:0.0:0.904:0.0	.	63;63	Q8WW14-3;Q8WW14	.;CJ082_HUMAN	G	63	ENSP00000358212:A63G	ENSP00000358212:A63G	A	-	2	0	C10orf82	118415195	0.014000	0.17966	0.010000	0.14722	0.031000	0.12232	1.748000	0.38308	1.161000	0.42604	0.561000	0.74099	GCC		0.562	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000050527.1	NM_144661		50	254	0	0	0	1	0	50	254				
PLCB2	5330	broad.mit.edu	37	15	40581489	40581489	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr15:40581489C>G	ENST00000260402.3	-	31	3587	c.3338G>C	c.(3337-3339)cGg>cCg	p.R1113P	PLCB2_ENST00000557821.1_Missense_Mutation_p.R1109P|PLCB2_ENST00000456256.2_Missense_Mutation_p.R1098P	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1113					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		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;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TTCCATCTCCCGTATCTGTTC	0.582																																						ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(3337-3339)cGg>cCg		phospholipase C, beta 2							143.0	152.0	149.0					15																	40581489		1956	4138	6094	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40581489C>G		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.3338G>C	15.37:g.40581489C>G	ENSP00000260402:p.Arg1113Pro					PLCB2_ENST00000456256.2_Missense_Mutation_p.R1098P|PLCB2_ENST00000557821.1_Missense_Mutation_p.R1109P	p.R1113P	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	31	3587	-		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)	1113					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.3338G>C	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852673	0.51270	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.45668	0.89;0.89	5.05	-0.161	0.13371	PLC-beta, C-terminal (1);	0.561271	0.17537	N	0.170673	T	0.33177	0.0854	N	0.22421	0.69	0.80722	D	1	P;B;P	0.37122	0.523;0.451;0.583	P;B;P	0.46299	0.509;0.333;0.511	T	0.06180	-1.0841	10	0.33141	T	0.24	.	8.7765	0.34765	0.0:0.4418:0.0:0.5582	.	1098;1109;1113	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	P	1113;1098	ENSP00000260402:R1113P;ENSP00000411991:R1098P	ENSP00000260402:R1113P	R	-	2	0	PLCB2	38368781	0.889000	0.30405	0.991000	0.47740	0.983000	0.72400	-0.086000	0.11233	-0.207000	0.10187	0.561000	0.74099	CGG		0.582	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			11	386	0	0	0	1	0	11	386				
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403								p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507																																						ENST00000379485.1																			7	Substitution - Missense(7)	p.T403K(7)	prostate(2)|skin(2)|NS(1)|kidney(1)|endometrium(1)	NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1207-1209)aCa>aAa		kelch repeat and BTB (POZ) domain containing 6							112.0	104.0	107.0					13																	41705440		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705440G>T	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1208C>A	13.37:g.41705440G>T	ENSP00000368799:p.Thr403Lys					KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	p.T403K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1442	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	403					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1208C>A	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.482688	0.01027	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.64618	-0.11;-0.11	3.8	1.18	0.20946	Kelch-type beta propeller (1);	0.117488	0.53938	N	0.000042	T	0.17066	0.0410	N	0.00260	-1.75	0.27866	N	0.940205	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	.	5.3509	0.16036	0.0:0.1047:0.1871:0.7082	.	337;403	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	403;337	ENSP00000368799:T403K;ENSP00000444326:T337K	ENSP00000368799:T403K	T	-	2	0	KBTBD6	40603440	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	3.048000	0.49862	0.145000	0.18977	-0.521000	0.04368	ACA		0.507	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		7	440	1	0	0.0381472	1	0.0381472	7	440				
ZNF667	63934	broad.mit.edu	37	19	56953041	56953041	+	Silent	SNP	T	T	C			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:56953041T>C	ENST00000504904.3	-	7	2042	c.1323A>G	c.(1321-1323)aaA>aaG	p.K441K	ZNF667_ENST00000292069.6_Silent_p.K441K|ZNF667_ENST00000342634.3_Silent_p.K569K|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	441					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		ATTTGAAAGGTTTCTCTTCAG	0.338																																						ENST00000504904.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1321-1323)aaA>aaG		zinc finger protein 667							47.0	48.0	48.0					19																	56953041		2203	4300	6503	SO:0001819	synonymous_variant	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953041T>C		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1323A>G	19.37:g.56953041T>C						ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Silent_p.K569K|ZNF667_ENST00000292069.6_Silent_p.K441K	p.K441K			Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	7	2042	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	441					B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	c.1323A>G	CCDS12944.1																																																																																				0.338	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		12	429	0	0	0	1	0	12	429				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		6	426	0	0	0	1	0	6	426				
COL5A1	1289	broad.mit.edu	37	9	137709638	137709638	+	Silent	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:137709638C>T	ENST00000371817.3	+	54	4605	c.4191C>T	c.(4189-4191)ccC>ccT	p.P1397P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1397	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCAGGCCCCGCAGGCCCCG	0.657																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(4189-4191)ccC>ccT		collagen, type V, alpha 1							86.0	76.0	79.0					9																	137709638		2200	4300	6500	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137709638C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4191C>T	9.37:g.137709638C>T							p.P1397P	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	54	4605	+		Myeloproliferative disorder(178;0.0341)	1397			Triple-helical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.4191C>T	CCDS6982.1																																																																																				0.657	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		11	46	0	0	0	1	0	11	46				
PSG3	5671	broad.mit.edu	37	19	43237204	43237204	+	Silent	SNP	G	G	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:43237204G>T	ENST00000327495.5	-	3	625	c.441C>A	c.(439-441)ccC>ccA	p.P147P	PSG3_ENST00000595140.1_Silent_p.P147P|PSG3_ENST00000490592.1_5'Flank	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	147	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGGAGGGCTTGGGAGTCTCCA	0.522																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(439-441)ccC>ccA		pregnancy specific beta-1-glycoprotein 3							136.0	138.0	137.0					19																	43237204		2203	4300	6503	SO:0001819	synonymous_variant	5671				defense response|female pregnancy	extracellular region		g.chr19:43237204G>T		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.441C>A	19.37:g.43237204G>T						PSG3_ENST00000595140.1_Silent_p.P147P	p.P147P	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			3	625	-		Prostate(69;0.00682)	147			Ig-like C2-type 1.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Silent	SNP	ENST00000327495.5	37	c.441C>A	CCDS12611.1																																																																																				0.522	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		150	695	1	0	6.68944e-66	1	7.53811e-66	150	695				
GREB1	9687	broad.mit.edu	37	2	11780565	11780565	+	Silent	SNP	G	G	A	rs376089071		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:11780565G>A	ENST00000381486.2	+	33	6135	c.5835G>A	c.(5833-5835)acG>acA	p.T1945T	GREB1_ENST00000234142.5_Silent_p.T1945T|GREB1_ENST00000396123.1_Silent_p.T943T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1945						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTTTTCTGACGGGACGACACA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		18022	0.0		0.001	False		,,,				2504	0.0				Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(5833-5835)acG>acA		growth regulation by estrogen in breast cancer 1		G		1,3893		0,1,1946	78.0	83.0	82.0		5835	-6.8	0.6	2		82	2,8252		0,2,4125	no	coding-synonymous	GREB1	NM_014668.3		0,3,6071	AA,AG,GG		0.0242,0.0257,0.0247		1945/1950	11780565	3,12145	1947	4127	6074	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11780565G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5835G>A	2.37:g.11780565G>A						GREB1_ENST00000396123.1_Silent_p.T943T|GREB1_ENST00000234142.5_Silent_p.T1945T	p.T1945T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	33	6135	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1945					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.5835G>A	CCDS42655.1																																																																																				0.607	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		29	300	0	0	0	1	0	29	300				
WDR48	57599	broad.mit.edu	37	3	39118643	39118643	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:39118643G>A	ENST00000302313.5	+	9	939	c.911G>A	c.(910-912)aGa>aAa	p.R304K	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.R222K|WDR48_ENST00000544962.1_Missense_Mutation_p.R96K	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	304					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAGCTTGATAGATCAGCTGAT	0.373																																						ENST00000302313.5																			0				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(910-912)aGa>aAa		WD repeat domain 48							110.0	111.0	110.0					3																	39118643		2203	4300	6503	SO:0001583	missense	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39118643G>A	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.911G>A	3.37:g.39118643G>A	ENSP00000307491:p.Arg304Lys					WDR48_ENST00000396258.3_Missense_Mutation_p.R222K|WDR48_ENST00000544962.1_Missense_Mutation_p.R96K|WDR48_ENST00000418020.1_5'UTR	p.R304K	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	9	939	+			304					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	c.911G>A	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948961	0.53186	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;D;T	0.87809	2.28;-2.3;2.25	6.16	6.16	0.99307	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88489	0.6450	N	0.22421	0.69	0.80722	D	1	P;B;B;B	0.47910	0.902;0.046;0.003;0.024	P;B;B;B	0.60173	0.87;0.007;0.001;0.002	D	0.84664	0.0708	10	0.22706	T	0.39	-0.2443	20.8598	0.99761	0.0:0.0:1.0:0.0	.	96;222;295;304	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	K	304;96;222	ENSP00000307491:R304K;ENSP00000445187:R96K;ENSP00000379557:R222K	ENSP00000307491:R304K	R	+	2	0	WDR48	39093647	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.771000	0.98977	2.937000	0.99478	0.650000	0.86243	AGA		0.373	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		60	323	0	0	0	1	0	60	323				
PATZ1	23598	broad.mit.edu	37	22	31740473	31740473	+	Silent	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr22:31740473C>T	ENST00000266269.5	-	1	1745	c.1116G>A	c.(1114-1116)cgG>cgA	p.R372R	PATZ1_ENST00000215919.3_Silent_p.R372R|PATZ1_ENST00000351933.4_Silent_p.R372R|PATZ1_ENST00000405309.3_Silent_p.R372R|AC005003.1_ENST00000504184.2_5'Flank	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	372					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R372R(2)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						ACAGCTTGTGCCGGTTAAGAT	0.582																																						ENST00000266269.5																		EWSR1/PATZ1(2)	2	Substitution - coding silent(2)	p.R372R(2)	kidney(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						c.(1114-1116)cgG>cgA		POZ (BTB) and AT hook containing zinc finger 1							113.0	108.0	110.0					22																	31740473		2203	4300	6503	SO:0001819	synonymous_variant	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31740473C>T	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1116G>A	22.37:g.31740473C>T						PATZ1_ENST00000405309.3_Silent_p.R372R|PATZ1_ENST00000351933.4_Silent_p.R372R|PATZ1_ENST00000215919.3_Silent_p.R372R	p.R372R	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN			1	1745	-			372					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Silent	SNP	ENST00000266269.5	37	c.1116G>A	CCDS13894.1																																																																																				0.582	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		5	317	0	0	0	1	0	5	317				
FOXJ3	22887	broad.mit.edu	37	1	42693584	42693584	+	Silent	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:42693584C>T	ENST00000372572.1	-	7	809	c.498G>A	c.(496-498)cgG>cgA	p.R166R	FOXJ3_ENST00000372573.1_Silent_p.R166R|FOXJ3_ENST00000361776.1_Silent_p.R166R|FOXJ3_ENST00000545068.1_Silent_p.R166R|FOXJ3_ENST00000361346.1_Silent_p.R166R	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	166					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCTTCTTTGGCCGAGTAGGCA	0.388																																						ENST00000372572.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(496-498)cgG>cgA		forkhead box J3							106.0	96.0	100.0					1																	42693584		2203	4300	6503	SO:0001819	synonymous_variant	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:42693584C>T	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.498G>A	1.37:g.42693584C>T						FOXJ3_ENST00000372573.1_Silent_p.R166R|FOXJ3_ENST00000361776.1_Silent_p.R166R|FOXJ3_ENST00000361346.1_Silent_p.R166R|FOXJ3_ENST00000545068.1_Silent_p.R166R	p.R166R	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN			7	809	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	166					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Silent	SNP	ENST00000372572.1	37	c.498G>A	CCDS30689.1																																																																																				0.388	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		6	599	0	0	0	1	0	6	599				
TRPM6	140803	broad.mit.edu	37	9	77390934	77390934	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:77390934G>A	ENST00000360774.1	-	24	3505	c.3268C>T	c.(3268-3270)Cgc>Tgc	p.R1090C	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1085C|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1085C|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1090C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1090C	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1090					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATGATGTAGCGATAGCGGTTG	0.493																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(3268-3270)Cgc>Tgc		transient receptor potential cation channel, subfamily M, member 6							118.0	127.0	124.0					9																	77390934		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77390934G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3268C>T	9.37:g.77390934G>A	ENSP00000354006:p.Arg1090Cys					TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1090C|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1090C|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1085C|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1085C	p.R1090C			Q9BX84	TRPM6_HUMAN			24	3505	-			1090					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.3268C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	32	5.120843	0.94385	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.55588	0.6;0.6;0.6;0.6;0.51	5.76	5.76	0.90799	.	0.046412	0.85682	D	0.000000	T	0.72779	0.3503	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.67900	0.932;0.931;0.954	T	0.74426	-0.3669	10	0.87932	D	0	.	19.9561	0.97218	0.0:0.0:1.0:0.0	.	1090;1085;1085	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	C	1090;1090;1085;1085;1090;753;753	ENSP00000354006:R1090C;ENSP00000407341:R1090C;ENSP00000396672:R1085C;ENSP00000354962:R1085C;ENSP00000366060:R1090C	ENSP00000309693:R753C	R	-	1	0	TRPM6	76580754	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.827000	0.86722	2.725000	0.93324	0.591000	0.81541	CGC		0.493	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		12	420	0	0	0	1	0	12	420				
GPR133	283383	broad.mit.edu	37	12	131476784	131476784	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr12:131476784G>A	ENST00000261654.5	+	8	1372	c.813G>A	c.(811-813)atG>atA	p.M271I	GPR133_ENST00000535015.1_Missense_Mutation_p.M303I|RP11-76C10.5_ENST00000542980.1_lincRNA	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	271					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCTTTCAGATGCCCACAGATG	0.393																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(811-813)atG>atA		G protein-coupled receptor 133							176.0	194.0	188.0					12																	131476784		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131476784G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.813G>A	12.37:g.131476784G>A	ENSP00000261654:p.Met271Ile					GPR133_ENST00000535015.1_Missense_Mutation_p.M303I|RP11-76C10.5_ENST00000542980.1_lincRNA	p.M271I	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	8	1372	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		271					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.813G>A	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	2.052	-0.417574	0.04766	.	.	ENSG00000111452	ENST00000261654;ENST00000542091;ENST00000535015;ENST00000537600	T;T	0.38887	1.11;1.11	5.62	2.61	0.31194	.	1.491050	0.03428	N	0.207351	T	0.30727	0.0774	L	0.29908	0.895	0.22081	N	0.999377	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16512	-1.0400	10	0.27785	T	0.31	.	3.881	0.09079	0.1601:0.1364:0.5778:0.1257	.	303;271	B7ZLF7;Q6QNK2	.;GP133_HUMAN	I	271;211;303;30	ENSP00000261654:M271I;ENSP00000444425:M303I	ENSP00000261654:M271I	M	+	3	0	GPR133	130042737	0.174000	0.23070	0.228000	0.23943	0.043000	0.13939	0.405000	0.21015	1.350000	0.45770	0.655000	0.94253	ATG		0.393	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		24	944	0	0	0	1	0	24	944				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	255	0	0	0	1	0	4	255				
DIP2C	22982	broad.mit.edu	37	10	410376	410376	+	Silent	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:410376G>A	ENST00000280886.6	-	20	2502	c.2415C>T	c.(2413-2415)aaC>aaT	p.N805N	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Silent_p.N126N	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	805						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGTCGTCGGCGTTGTGCCTGC	0.602																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(2413-2415)aaC>aaT		DIP2 disco-interacting protein 2 homolog C (Drosophila)							78.0	76.0	76.0					10																	410376		2203	4300	6503	SO:0001819	synonymous_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:410376G>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2415C>T	10.37:g.410376G>A						DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Silent_p.N126N	p.N805N	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	20	2502	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	805					B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	c.2415C>T	CCDS7054.1																																																																																				0.602	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		59	263	0	0	0	1	0	59	263				
MUC4	4585	broad.mit.edu	37	3	195505870	195505870	+	Missense_Mutation	SNP	G	G	A	rs201928034		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:195505870G>A	ENST00000463781.3	-	2	13040	c.12581C>T	c.(12580-12582)cCt>cTt	p.P4194L	MUC4_ENST00000475231.1_Missense_Mutation_p.P4194L|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTCGGTGACAGGAAGAGGGGT	0.602																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12580-12582)cCt>cTt		mucin 4, cell surface associated							21.0	15.0	17.0					3																	195505870		689	1578	2267	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505870G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12581C>T	3.37:g.195505870G>A	ENSP00000417498:p.Pro4194Leu					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P4194L	p.P4194L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13040	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	957					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12581C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	1.704	-0.500860	0.04261	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.33654	1.46;1.4	.	.	.	.	.	.	.	.	T	0.35913	0.0948	N	0.19112	0.55	0.20196	N	0.999925	D	0.59357	0.985	D	0.64042	0.921	T	0.17319	-1.0373	7	.	.	.	.	6.6097	0.22745	2.0E-4:0.0:0.9998:0.0	.	4066	E7ESK3	.	L	4194	ENSP00000417498:P4194L;ENSP00000420243:P4194L	.	P	-	2	0	MUC4	196990649	0.001000	0.12720	0.080000	0.20451	0.057000	0.15508	0.823000	0.27366	0.452000	0.26830	0.074000	0.15403	CCT		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	20	0	0	0	1	0	4	20				
ADAMTS18	170692	broad.mit.edu	37	16	77317969	77317969	+	Splice_Site	SNP	C	C	G			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr16:77317969C>G	ENST00000282849.5	-	23	3969		c.e23-1		RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18						eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GATGGATCCTCTAAAATAAGA	0.398																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.e23-1		ADAM metallopeptidase with thrombospondin type 1 motif, 18							106.0	100.0	102.0					16																	77317969		2198	4300	6498	SO:0001630	splice_region_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77317969C>G	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3551-1G>C	16.37:g.77317969C>G						RP11-538I12.3_ENST00000561672.1_RNA		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			23	3969	-								Q6P4R5|Q6ZWJ9	Splice_Site	SNP	ENST00000282849.5	37		CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894540	0.72639	.	.	ENSG00000140873	ENST00000282849	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3291	0.94278	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS18	75875470	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	7.188000	0.77739	2.814000	0.96858	0.655000	0.94253	.		0.398	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		Intron	35	238	0	0	0	1	0	35	238				
BRCA1	672	broad.mit.edu	37	17	41245612	41245612	+	Missense_Mutation	SNP	T	T	C	rs397508919		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:41245612T>C	ENST00000357654.3	-	10	2054	c.1936A>G	c.(1936-1938)Agc>Ggc	p.S646G	BRCA1_ENST00000354071.3_Missense_Mutation_p.S646G|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.S646G|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.S350G|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.S599G|BRCA1_ENST00000346315.3_Missense_Mutation_p.S646G|BRCA1_ENST00000491747.2_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	646					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTTCACTGCTAGAACAACTA	0.408			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(1048-1050)Agc>Ggc	Homologous recombination	breast cancer 1, early onset							96.0	91.0	93.0					17																	41245612		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41245612T>C	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1936A>G	17.37:g.41245612T>C	ENSP00000350283:p.Ser646Gly	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000493795.1_Missense_Mutation_p.S599G|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.S646G|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.S646G|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.S646G|BRCA1_ENST00000354071.3_Missense_Mutation_p.S646G	p.S350G	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	2075	-		Breast(137;0.000717)	646					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.1048A>G	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701528	0.48307	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152	D;D;D;D;D;D;D;D	0.99032	-3.64;-3.72;-3.69;-3.57;-3.66;-3.78;-3.99;-5.35	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000002	D	0.99318	0.9761	M	0.93594	3.435	0.32644	N	0.52031	D;D;P;P;D;P	0.89917	1.0;1.0;0.751;0.849;0.984;0.808	D;D;B;P;P;P	0.71414	0.973;0.973;0.318;0.561;0.799;0.614	D	0.99886	1.1122	10	0.72032	D	0.01	-12.2956	9.02	0.36193	0.0:0.0823:0.0:0.9177	.	646;605;646;646;646;646	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	G	646;646;646;646;350;646;599;646;620	ENSP00000350283:S646G;ENSP00000326002:S646G;ENSP00000246907:S646G;ENSP00000310938:S350G;ENSP00000418960:S646G;ENSP00000418775:S599G;ENSP00000419274:S646G;ENSP00000419988:S620G	ENSP00000310938:S350G	S	-	1	0	BRCA1	38499138	1.000000	0.71417	0.987000	0.45799	0.844000	0.47949	3.457000	0.53007	2.170000	0.68504	0.459000	0.35465	AGC		0.408	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		56	510	0	0	0	1	0	56	510				
DAPK3	1613	broad.mit.edu	37	19	3964300	3964300	+	Silent	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:3964300C>T	ENST00000545797.2	-	4	738	c.495G>A	c.(493-495)gcG>gcA	p.A165A	MIR637_ENST00000385000.1_RNA|DAPK3_ENST00000301264.3_Silent_p.A165A			O43293	DAPK3_HUMAN	death-associated protein kinase 3	165	Activation segment. {ECO:0000250|UniProtKB:O96017}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CGATCTTGTGCGCGATGCCGA	0.622																																						ENST00000545797.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21						c.(493-495)gcG>gcA		death-associated protein kinase 3							213.0	133.0	160.0					19																	3964300		2203	4300	6503	SO:0001819	synonymous_variant	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3964300C>T	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.495G>A	19.37:g.3964300C>T						DAPK3_ENST00000301264.3_Silent_p.A165A	p.A165A			O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	4	738	-		Hepatocellular(1079;0.137)	165			Protein kinase.		A0AVN4|B3KQE2|Q05JY4	Silent	SNP	ENST00000545797.2	37	c.495G>A	CCDS12116.1																																																																																				0.622	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		4	169	0	0	0	1	0	4	169				
ARID3C	138715	broad.mit.edu	37	9	34622033	34622033	+	Silent	SNP	G	G	A	rs563083593		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:34622033G>A	ENST00000378909.2	-	6	1214	c.1122C>T	c.(1120-1122)aaC>aaT	p.N374N	DCTN3_ENST00000341694.2_5'Flank|DCTN3_ENST00000447983.2_5'Flank|DCTN3_ENST00000378913.2_5'Flank|DCTN3_ENST00000259632.7_5'Flank|DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000477738.2_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	374	Pro-rich.|REKLES. {ECO:0000255|PROSITE- ProRule:PRU00819}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		AGACCACCCCGTTGATCTCTA	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17709	0.0		0.0	False		,,,				2504	0.0					ENST00000378909.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14						c.(1120-1122)aaC>aaT		AT rich interactive domain 3C (BRIGHT-like)							153.0	128.0	136.0					9																	34622033		2203	4300	6503	SO:0001819	synonymous_variant	138715				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:34622033G>A		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"""-"""	21209	protein-coding gene	gene with protein product			"""AT rich interactive domain 3C (BRIGHT- like)"""				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.1122C>T	9.37:g.34622033G>A							p.N374N	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)	6	1214	-	all_epithelial(49;0.102)		374			Pro-rich.|REKLES.			Silent	SNP	ENST00000378909.2	37	c.1122C>T	CCDS35006.1																																																																																				0.552	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		42	300	0	0	0	1	0	42	300				
BTN2A2	10385	broad.mit.edu	37	6	26392774	26392774	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:26392774G>A	ENST00000356709.4	+	8	1262	c.1151G>A	c.(1150-1152)tGg>tAg	p.W384*	BTN2A2_ENST00000482536.1_Nonsense_Mutation_p.W174*|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Nonsense_Mutation_p.W384*|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000352867.2_Nonsense_Mutation_p.W268*	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	384	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						AAACATTACTGGGAGGTGGAG	0.572																																						ENST00000356709.4																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(1150-1152)tGg>tAg		butyrophilin, subfamily 2, member A2							139.0	128.0	132.0					6																	26392774		2203	4300	6503	SO:0001587	stop_gained	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26392774G>A	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.1151G>A	6.37:g.26392774G>A	ENSP00000349143:p.Trp384*					BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000352867.2_Nonsense_Mutation_p.W268*|BTN2A2_ENST00000482536.1_Nonsense_Mutation_p.W174*|BTN2A2_ENST00000416795.2_Nonsense_Mutation_p.W384*	p.W384*	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN			8	1262	+			384			B30.2/SPRY.		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Nonsense_Mutation	SNP	ENST00000356709.4	37	c.1151G>A	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	.	32	5.166959	0.94768	.	.	ENSG00000124508	ENST00000490025;ENST00000356709;ENST00000352867;ENST00000482536;ENST00000416795	.	.	.	3.92	3.92	0.45320	.	0.000000	0.47455	D	0.000228	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.825	0.63346	0.0:0.0:1.0:0.0	.	.	.	.	X	179;384;268;174;384	.	ENSP00000337117:W268X	W	+	2	0	BTN2A2	26500753	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.910000	0.48766	1.916000	0.55485	0.454000	0.30748	TGG		0.572	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			4	290	0	0	0	1	0	4	290				
UBBP4	23666	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T	rs570609187	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:21730847G>T	ENST00000578713.1	+	1	153	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R50L					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522													.|||	3	0.000599042	0.0008	0.0	5008	,	,		21142	0.002		0.0	False		,,,				2504	0.0					ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(148-150)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730847G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.149G>T	17.37:g.21730847G>T	ENSP00000464265:p.Arg50Leu					UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L	p.R50L							2	546	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.149G>T																																																																																					0.522	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	202	1	0	0.00909568	1	0.00921777	4	202				
PCSK5	5125	broad.mit.edu	37	9	78790136	78790136	+	Intron	SNP	T	T	C	rs62556589		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:78790136T>C	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376767.3_Missense_Mutation_p.M664T|PCSK5_ENST00000376752.4_Intron	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						tggaatggaatgaaatggaat	0.423																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1990-1992)aTg>aCg		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790136T>C		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+91T>C	9.37:g.78790136T>C						PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron	p.M664T			Q92824	PCSK5_HUMAN			14	2503	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1991T>C	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.632416	0.00806	.	.	ENSG00000099139	ENST00000376767;ENST00000396108	T	0.72282	-0.64	.	.	.	.	.	.	.	.	T	0.50514	0.1620	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.30001	-0.9993	6	0.24483	T	0.36	.	.	.	.	rs62556589	664	B1AMG5	.	T	664	ENSP00000365958:M664T	ENSP00000365958:M664T	M	+	2	0	PCSK5	77979956	0.008000	0.16893	0.036000	0.18154	0.039000	0.13416	-0.019000	0.12546	0.228000	0.21019	0.225000	0.17782	ATG		0.423	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	80	0	0	0	1	0	4	80				
BAI1	575	broad.mit.edu	37	8	143618425	143618425	+	Silent	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr8:143618425C>T	ENST00000517894.1	+	26	4542	c.3648C>T	c.(3646-3648)aaC>aaT	p.N1216N	BAI1_ENST00000323289.5_Silent_p.N1216N			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1216					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCTTCCAGAACGGCCACGCCC	0.692																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3646-3648)aaC>aaT		brain-specific angiogenesis inhibitor 1							26.0	34.0	32.0					8																	143618425		2078	4197	6275	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143618425C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3648C>T	8.37:g.143618425C>T						BAI1_ENST00000323289.5_Silent_p.N1216N	p.N1216N			O14514	BAI1_HUMAN			26	4542	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1216						Silent	SNP	ENST00000517894.1	37	c.3648C>T																																																																																					0.692	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		4	47	0	0	0	1	0	4	47				
RUFY3	22902	broad.mit.edu	37	4	71588247	71588247	+	De_novo_Start_OutOfFrame	SNP	T	T	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr4:71588247T>A	ENST00000226328.4	+	0	520				RUFY3_ENST00000417478.2_Intron|RUFY3_ENST00000536664.1_5'Flank|RUFY3_ENST00000381006.3_De_novo_Start_OutOfFrame	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3						negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			tgtgtgtgagtgtgtgtgtgt	0.478																																						ENST00000226328.4																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16								RUN and FYVE domain containing 3							77.0	68.0	71.0					4																	71588247		2203	4300	6503			22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71588247T>A	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.-44T>A	4.37:g.71588247T>A						RUFY3_ENST00000381006.3_De_novo_Start_OutOfFrame|RUFY3_ENST00000417478.2_Intron		NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		0	520	+		all_hematologic(202;0.248)						B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Translation_Start_Site	SNP	ENST00000226328.4	37		CCDS3547.1																																																																																				0.478	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		4	81	0	0	0	1	0	4	81				
TENM3	55714	broad.mit.edu	37	4	183673042	183673042	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr4:183673042G>A	ENST00000511685.1	+	20	3842	c.3719G>A	c.(3718-3720)cGc>cAc	p.R1240H	TENM3_ENST00000406950.2_Missense_Mutation_p.R1240H|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1240					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AGAATTTATCGCCCAAAGTCA	0.512																																						ENST00000511685.1																			0											c.(3718-3720)cGc>cAc		teneurin transmembrane protein 3							98.0	97.0	97.0					4																	183673042		1916	4121	6037	SO:0001583	missense	55714							g.chr4:183673042G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3719G>A	4.37:g.183673042G>A	ENSP00000424226:p.Arg1240His					TENM3_ENST00000406950.2_Missense_Mutation_p.R1240H|TENM3_ENST00000502950.1_3'UTR	p.R1240H							20	3842	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.3719G>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393194	0.96009	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.91407	-2.84;-2.84	5.38	5.38	0.77491	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.96818	0.8961	H	0.94658	3.565	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.97440	1.0021	9	0.87932	D	0	.	19.317	0.94218	0.0:0.0:1.0:0.0	.	1240	Q9P273	TEN3_HUMAN	H	1240	ENSP00000424226:R1240H;ENSP00000385276:R1240H	ENSP00000385276:R1240H	R	+	2	0	ODZ3	183910036	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.601000	0.98297	2.806000	0.96561	0.655000	0.94253	CGC		0.512	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			6	324	0	0	0	1	0	6	324				
FAT2	2196	broad.mit.edu	37	5	150923075	150923075	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr5:150923075G>A	ENST00000261800.5	-	9	7625	c.7613C>T	c.(7612-7614)gCc>gTc	p.A2538V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2538	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCAGAGTGGCAATCTGGCC	0.453																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(7612-7614)gCc>gTc		FAT atypical cadherin 2							152.0	155.0	154.0					5																	150923075		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150923075G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7613C>T	5.37:g.150923075G>A	ENSP00000261800:p.Ala2538Val						p.A2538V	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	7625	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2538			Cadherin 22.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.7613C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	4.277	0.050637	0.08243	.	.	ENSG00000086570	ENST00000261800	T	0.52295	0.67	5.34	5.34	0.76211	Cadherin (4);Cadherin-like (1);	0.271335	0.31660	N	0.007273	T	0.16938	0.0407	N	0.00960	-1.095	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.18209	-1.0344	10	0.15066	T	0.55	.	8.3401	0.32239	0.0774:0.0:0.7667:0.1559	.	2538	Q9NYQ8	FAT2_HUMAN	V	2538	ENSP00000261800:A2538V	ENSP00000261800:A2538V	A	-	2	0	FAT2	150903268	0.981000	0.34729	0.988000	0.46212	0.863000	0.49368	4.966000	0.63715	2.498000	0.84270	0.462000	0.41574	GCC		0.453	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		8	845	0	0	0	1	0	8	845				
ZDBF2	57683	broad.mit.edu	37	2	207171284	207171284	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:207171284G>T	ENST00000374423.3	+	5	2418	c.2032G>T	c.(2032-2034)Gac>Tac	p.D678Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	678							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCAATTAGCTGACCAGTCTCA	0.428																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(2032-2034)Gac>Tac		zinc finger, DBF-type containing 2							71.0	70.0	71.0					2																	207171284		1895	4132	6027	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207171284G>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2032G>T	2.37:g.207171284G>T	ENSP00000363545:p.Asp678Tyr						p.D678Y	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	2418	+			678					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.2032G>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287181	0.40494	.	.	ENSG00000204186	ENST00000374423	T	0.54675	0.56	4.24	3.33	0.38152	.	0.943578	0.08666	N	0.911684	T	0.57330	0.2046	L	0.34521	1.04	0.09310	N	1	D	0.69078	0.997	P	0.58577	0.841	T	0.47156	-0.9139	10	0.66056	D	0.02	.	9.9562	0.41668	0.0:0.2064:0.7936:0.0	.	678	Q9HCK1	ZDBF2_HUMAN	Y	678	ENSP00000363545:D678Y	ENSP00000363545:D678Y	D	+	1	0	ZDBF2	206879529	0.012000	0.17670	0.014000	0.15608	0.007000	0.05969	1.571000	0.36450	1.318000	0.45170	0.655000	0.94253	GAC		0.428	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		29	156	1	0	1.32181e-22	1	1.45688e-22	29	156				
SNAPC4	6621	broad.mit.edu	37	9	139289824	139289824	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:139289824C>T	ENST00000298532.2	-	4	765	c.397G>A	c.(397-399)Ggc>Agc	p.G133S		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AGGCTTTTGCCATCTTTCACC	0.567																																						ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(397-399)Ggc>Agc		small nuclear RNA activating complex, polypeptide 4, 190kDa							114.0	102.0	106.0					9																	139289824		2203	4300	6503	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139289824C>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.397G>A	9.37:g.139289824C>T	ENSP00000298532:p.Gly133Ser						p.G133S	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	4	765	-		Myeloproliferative disorder(178;0.0511)	133			SNAPC5-binding.			Missense_Mutation	SNP	ENST00000298532.2	37	c.397G>A	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	6.565	0.472500	0.12461	.	.	ENSG00000165684	ENST00000298532	T	0.28255	1.62	5.35	-2.81	0.05805	.	1.072810	0.07153	N	0.849409	T	0.25791	0.0628	L	0.48362	1.52	0.09310	N	0.999994	B	0.28378	0.209	B	0.22880	0.042	T	0.25012	-1.0144	10	0.52906	T	0.07	-3.3704	10.5123	0.44868	0.0:0.4466:0.0:0.5534	.	133	Q5SXM2	SNPC4_HUMAN	S	133	ENSP00000298532:G133S	ENSP00000298532:G133S	G	-	1	0	SNAPC4	138409645	0.003000	0.15002	0.000000	0.03702	0.004000	0.04260	-0.062000	0.11674	-0.992000	0.03472	-1.074000	0.02243	GGC		0.567	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		9	274	0	0	0	1	0	9	274				
IRX5	10265	broad.mit.edu	37	16	54966435	54966435	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr16:54966435G>A	ENST00000394636.4	+	2	612	c.275G>A	c.(274-276)gGc>gAc	p.G92D	IRX5_ENST00000558597.1_Missense_Mutation_p.G26D|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000320990.5_Missense_Mutation_p.G92D|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5	92					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CACACACCCGGCATGGCGGGC	0.652																																						ENST00000394636.4																			0				kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(274-276)gGc>gAc		iroquois homeobox 5							43.0	49.0	47.0					16																	54966435		2198	4300	6498	SO:0001583	missense	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54966435G>A	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.275G>A	16.37:g.54966435G>A	ENSP00000378132:p.Gly92Asp					IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Missense_Mutation_p.G26D|IRX5_ENST00000320990.5_Missense_Mutation_p.G92D	p.G92D			P78411	IRX5_HUMAN			2	612	+			92					H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	ENST00000394636.4	37	c.275G>A	CCDS10751.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805678	0.70682	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	T;T	0.62639	0.02;0.01	4.68	4.68	0.58851	.	0.051954	0.85682	D	0.000000	T	0.78735	0.4330	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81278	-0.1005	10	0.66056	D	0.02	-12.7714	12.9719	0.58517	0.0:0.1639:0.8361:0.0	.	92	P78411	IRX5_HUMAN	D	92	ENSP00000378132:G92D;ENSP00000316250:G92D	ENSP00000316250:G92D	G	+	2	0	IRX5	53523936	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.497000	0.97970	2.423000	0.82170	0.655000	0.94253	GGC		0.652	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			5	217	0	0	0	1	0	5	217				
ALOX5	240	broad.mit.edu	37	10	45878098	45878098	+	Silent	SNP	C	C	T	rs150281723	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:45878098C>T	ENST00000374391.2	+	2	371	c.318C>T	c.(316-318)ggC>ggT	p.G106G	ALOX5_ENST00000542434.1_Silent_p.G106G	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	106	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)	p.G106G(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	GGATCACCGGCGATGTCGAGG	0.592													C|||	12	0.00239617	0.0	0.0	5008	,	,		20608	0.0109		0.0	False		,,,				2504	0.001					ENST00000374391.2																			1	Substitution - coding silent(1)	p.G106G(1)	large_intestine(1)	breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(316-318)ggC>ggT		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	C		0,4406		0,0,2203	61.0	50.0	54.0		318	-7.7	0.1	10	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous	ALOX5	NM_000698.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		106/675	45878098	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45878098C>T	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.318C>T	10.37:g.45878098C>T						ALOX5_ENST00000542434.1_Silent_p.G106G	p.G106G	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN			2	371	+		Lung SC(717;0.0257)	106			PLAT.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Silent	SNP	ENST00000374391.2	37	c.318C>T	CCDS7212.1																																																																																				0.592	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			14	93	0	0	0	1	0	14	93				
SLC18A3	6572	broad.mit.edu	37	10	50819229	50819229	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:50819229G>A	ENST00000374115.3	+	1	883	c.443G>A	c.(442-444)cGc>cAc	p.R148H	CHAT_ENST00000339797.1_Intron|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000395559.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	148					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TTCATCGACCGCATGAGCTAC	0.617																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(442-444)cGc>cAc		solute carrier family 18 (vesicular acetylcholine transporter), member 3							93.0	88.0	89.0					10																	50819229		2203	4300	6503	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819229G>A	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.443G>A	10.37:g.50819229G>A	ENSP00000363229:p.Arg148His					CHAT_ENST00000339797.1_Intron	p.R148H	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	883	+			148					B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.443G>A	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826104	0.90955	.	.	ENSG00000187714	ENST00000374115	T	0.65549	-0.16	4.8	4.8	0.61643	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000001	D	0.83982	0.5372	M	0.93678	3.445	0.58432	D	0.999993	D	0.64830	0.994	D	0.66847	0.947	D	0.88998	0.3419	10	0.87932	D	0	-4.4522	17.8543	0.88758	0.0:0.0:1.0:0.0	.	148	Q16572	VACHT_HUMAN	H	148	ENSP00000363229:R148H	ENSP00000363229:R148H	R	+	2	0	SLC18A3	50489235	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.464000	0.97655	2.203000	0.70933	0.561000	0.74099	CGC		0.617	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		6	583	0	0	0	1	0	6	583				
BCRP7	100133163	broad.mit.edu	37	22	18844790	18844790	+	3'UTR	SNP	C	C	T	rs5993357		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr22:18844790C>T	ENST00000412938.1	+	0	3040																											GTGGAGGAGACGTCTCCCATG	0.577																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844790C>T																												ENST00000412938.1:c.*3037C>T	22.37:g.18844790C>T														0	3040	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.577	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	74	0	0	0	1	0	4	74				
IDH2	3418	broad.mit.edu	37	15	90630448	90630448	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr15:90630448C>A	ENST00000330062.3	-	7	976	c.863G>T	c.(862-864)cGg>cTg	p.R288L	IDH2_ENST00000559482.1_Missense_Mutation_p.R179L|IDH2_ENST00000539790.1_Missense_Mutation_p.R158L|IDH2_ENST00000540499.2_Missense_Mutation_p.R236L	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	288					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATCAATGAGCCGGTGCTCATA	0.527			M		GBM						OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		0				biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(862-864)cGg>cTg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							131.0	124.0	126.0					15																	90630448		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90630448C>A		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.863G>T	15.37:g.90630448C>A	ENSP00000331897:p.Arg288Leu		OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1276	IDH2_ENST00000559482.1_Missense_Mutation_p.R179L|IDH2_ENST00000539790.1_Missense_Mutation_p.R158L|IDH2_ENST00000540499.2_Missense_Mutation_p.R236L	p.R288L	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		7	976	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		288					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.863G>T	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.476860	0.84640	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	T;T;T	0.76316	-1.01;-1.01;-1.01	5.73	5.73	0.89815	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.90995	0.7168	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.92661	0.6141	10	0.87932	D	0	.	17.3795	0.87401	0.0:1.0:0.0:0.0	.	288;288	Q53GL5;P48735	.;IDHP_HUMAN	L	288;158;236	ENSP00000331897:R288L;ENSP00000438457:R158L;ENSP00000446147:R236L	ENSP00000331897:R288L	R	-	2	0	IDH2	88431452	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	7.786000	0.85741	2.709000	0.92574	0.491000	0.48974	CGG		0.527	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			6	233	1	0	0.00198382	1	0.00205176	6	233				
MBD3L1	85509	broad.mit.edu	37	19	8953738	8953738	+	Silent	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:8953738G>A	ENST00000595891.1	+	3	615	c.384G>A	c.(382-384)gcG>gcA	p.A128A	MBD3L1_ENST00000305625.2_Silent_p.A128A			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						CTTCAGATGCGGTGGAGATAA	0.522																																						ENST00000595891.1																			0				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						c.(382-384)gcG>gcA		methyl-CpG binding domain protein 3-like 1							56.0	46.0	50.0					19																	8953738		2203	4300	6503	SO:0001819	synonymous_variant	85509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:8953738G>A	AY038022	CCDS12209.1	19p13.2	2011-01-31	2003-03-19	2003-03-21	ENSG00000170948	ENSG00000170948			15774	protein-coding gene	gene with protein product		607963	"""methyl-CpG binding domain protein 3-like"""	MBD3L		12504854	Standard	NM_145208		Approved		uc002mko.2	Q8WWY6		ENST00000595891.1:c.384G>A	19.37:g.8953738G>A						MBD3L1_ENST00000305625.2_Silent_p.A128A	p.A128A			Q8WWY6	MB3L1_HUMAN			3	615	+			128					B5BUM6|Q2M291	Silent	SNP	ENST00000595891.1	37	c.384G>A	CCDS12209.1																																																																																				0.522	MBD3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459973.1	NM_145208		21	118	0	0	0	1	0	21	118				
FSCB	84075	broad.mit.edu	37	14	44974339	44974339	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr14:44974339C>T	ENST00000340446.4	-	1	2143	c.1852G>A	c.(1852-1854)Gcc>Acc	p.A618T	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	618	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCAGCGGGGGCCTCCTCAGCT	0.617																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(1852-1854)Gcc>Acc		fibrous sheath CABYR binding protein							9.0	10.0	10.0					14																	44974339		2110	4184	6294	SO:0001583	missense	84075					cilium		g.chr14:44974339C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1852G>A	14.37:g.44974339C>T	ENSP00000344579:p.Ala618Thr						p.A618T	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2143	-			618			Ala-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1852G>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	c	12.57	1.976988	0.34848	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.14144	2.53	4.95	-4.64	0.03349	.	.	.	.	.	T	0.08223	0.0205	L	0.40543	1.245	0.09310	N	1	P	0.41848	0.763	B	0.40009	0.316	T	0.10989	-1.0606	9	0.33940	T	0.23	-0.0988	0.4709	0.00532	0.3443:0.2681:0.1394:0.2481	.	618	Q5H9T9	FSCB_HUMAN	T	618;511	ENSP00000344579:A618T	ENSP00000344579:A618T	A	-	1	0	FSCB	44044089	0.000000	0.05858	0.000000	0.03702	0.169000	0.22640	-4.571000	0.00214	-1.155000	0.02822	0.650000	0.86243	GCC		0.617	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		6	118	0	0	0	1	0	6	118				
C11orf70	85016	broad.mit.edu	37	11	101953816	101953816	+	Missense_Mutation	SNP	G	G	A	rs181449558		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:101953816G>A	ENST00000434758.2	+	7	718	c.690G>A	c.(688-690)atG>atA	p.M230I		NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	230										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CTGCTGGTATGTGCTATCCTT	0.294													G|||	1	0.000199681	0.0	0.0	5008	,	,		12078	0.0		0.001	False		,,,				2504	0.0					ENST00000434758.2																			0				breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12						c.(688-690)atG>atA		chromosome 11 open reading frame 70		G	ILE/MET	0,4406		0,0,2203	147.0	137.0	141.0		690	4.0	1.0	11		141	8,8590	6.4+/-24.3	0,8,4291	yes	missense	C11orf70	NM_032930.2	10	0,8,6494	AA,AG,GG		0.093,0.0,0.0615	benign	230/268	101953816	8,12996	2203	4299	6502	SO:0001583	missense	85016							g.chr11:101953816G>A	AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.690G>A	11.37:g.101953816G>A	ENSP00000414390:p.Met230Ile						p.M230I	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	7	718	+	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	230					E9PJU1	Missense_Mutation	SNP	ENST00000434758.2	37	c.690G>A	CCDS8313.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.29	1.310068	0.23821	0.0	9.3E-4	ENSG00000137691	ENST00000434758;ENST00000423732	.	.	.	5.85	3.99	0.46301	.	0.448291	0.26062	N	0.026578	T	0.46600	0.1401	L	0.50333	1.59	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.36578	-0.9742	9	0.23891	T	0.37	0.0275	7.5577	0.27833	0.1437:0.0:0.7203:0.1361	.	230	Q9BRQ4	CK070_HUMAN	I	230;192	.	ENSP00000392150:M192I	M	+	3	0	C11orf70	101459026	0.991000	0.36638	0.996000	0.52242	0.588000	0.36517	0.758000	0.26447	1.487000	0.48415	0.585000	0.79938	ATG		0.294	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	NM_032930		114	442	0	0	0	1	0	114	442				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			9	190	0	0	0	1	0	9	190				
ZBTB16	7704	broad.mit.edu	37	11	114027126	114027126	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:114027126C>T	ENST00000335953.4	+	3	1716	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	ZBTB16_ENST00000392996.2_Missense_Mutation_p.R446W	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	446					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GGATAGTTTGCGGCTGAGAAT	0.547																																						ENST00000335953.4																			0				central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6						c.(1336-1338)Cgg>Tgg		zinc finger and BTB domain containing 16							163.0	122.0	136.0					11																	114027126		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:114027126C>T	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1336C>T	11.37:g.114027126C>T	ENSP00000338157:p.Arg446Trp					ZBTB16_ENST00000392996.2_Missense_Mutation_p.R446W	p.R446W	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	3	1716	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	446					Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.1336C>T	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389876	0.82902	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.15372	2.43;2.43	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.38134	0.1029	M	0.62723	1.935	0.51767	D	0.999937	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.10245	-1.0638	10	0.72032	D	0.01	-2.7332	13.0927	0.59174	0.1603:0.8397:0.0:0.0	.	446;451	Q05516;Q59H43	ZBT16_HUMAN;.	W	446;446;323	ENSP00000338157:R446W;ENSP00000376721:R446W	ENSP00000309507:R323W	R	+	1	2	ZBTB16	113532336	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.419000	0.66435	2.500000	0.84329	0.655000	0.94253	CGG		0.547	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		4	215	0	0	0	1	0	4	215				
WWP2	11060	broad.mit.edu	37	16	69969883	69969883	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr16:69969883G>A	ENST00000359154.2	+	18	2071	c.1970G>A	c.(1969-1971)tGg>tAg	p.W657*	WWP2_ENST00000448661.1_Nonsense_Mutation_p.W657*|WWP2_ENST00000568684.1_Nonsense_Mutation_p.W218*|MIR140_ENST00000385282.1_RNA|WWP2_ENST00000356003.2_Nonsense_Mutation_p.W657*|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Nonsense_Mutation_p.W541*	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	657	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCATTGTCTGGATCAAGTGA	0.542																																						ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1969-1971)tGg>tAg		WW domain containing E3 ubiquitin protein ligase 2							143.0	130.0	134.0					16																	69969883		2198	4300	6498	SO:0001587	stop_gained	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69969883G>A	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1970G>A	16.37:g.69969883G>A	ENSP00000352069:p.Trp657*					WWP2_ENST00000356003.2_Nonsense_Mutation_p.W657*|WWP2_ENST00000448661.1_Nonsense_Mutation_p.W657*|WWP2_ENST00000542271.1_Nonsense_Mutation_p.W541*|WWP2_ENST00000568684.1_Nonsense_Mutation_p.W218*|WWP2_ENST00000544162.1_3'UTR	p.W657*	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			18	2071	+			657			HECT.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Nonsense_Mutation	SNP	ENST00000359154.2	37	c.1970G>A	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	39	7.554393	0.98355	.	.	ENSG00000198373	ENST00000359154;ENST00000545099;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	.	.	.	5.7	5.7	0.88788	.	0.105878	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.843	0.96697	0.0:0.0:1.0:0.0	.	.	.	.	X	657;218;657;657;544;541	.	.	W	+	2	0	WWP2	68527384	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.679000	0.91253	0.655000	0.94253	TGG		0.542	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		82	346	0	0	0	1	0	82	346				
ACSM4	341392	broad.mit.edu	37	12	7469871	7469871	+	Silent	SNP	C	C	T	rs200562081		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr12:7469871C>T	ENST00000399422.4	+	4	807	c.759C>T	c.(757-759)tgC>tgT	p.C253C		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	253					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						TCACCCTCTGCGGAAGGTAGG	0.463													C|||	1	0.000199681	0.0	0.0014	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					ENST00000399422.4																			0				endometrium(6)|kidney(1)|lung(14)	21						c.(757-759)tgC>tgT		acyl-CoA synthetase medium-chain family member 4		C		0,3840		0,0,1920	31.0	33.0	32.0		759	-0.3	1.0	12		32	1,8221		0,1,4110	no	coding-synonymous	ACSM4	NM_001080454.1		0,1,6030	TT,TC,CC		0.0122,0.0,0.0083		253/581	7469871	1,12061	1920	4111	6031	SO:0001819	synonymous_variant	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7469871C>T		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.759C>T	12.37:g.7469871C>T							p.C253C	NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN			4	807	+			253					A8MTI6	Silent	SNP	ENST00000399422.4	37	c.759C>T	CCDS44825.1																																																																																				0.463	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		7	26	0	0	0	1	0	7	26				
NCOA6	23054	broad.mit.edu	37	20	33337722	33337722	+	Missense_Mutation	SNP	G	G	A	rs187622379		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr20:33337722G>A	ENST00000374796.2	-	10	4846	c.2276C>T	c.(2275-2277)aCg>aTg	p.T759M	NCOA6_ENST00000359003.2_Missense_Mutation_p.T759M			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	759	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)			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						CATCTGTCCCGTAAACTGCAC	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		22320	0.001		0.0	False		,,,				2504	0.0					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.(2275-2277)aCg>aTg		nuclear receptor coactivator 6							100.0	87.0	92.0					20																	33337722		2203	4300	6503	SO:0001583	missense	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.chr20:33337722G>A	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.2276C>T	20.37:g.33337722G>A	ENSP00000363929:p.Thr759Met					NCOA6_ENST00000359003.2_Missense_Mutation_p.T759M	p.T759M			Q14686	NCOA6_HUMAN			10	4846	-			759			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.2276C>T	CCDS13241.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.50	3.405308	0.62288	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.24350	1.86;1.86	5.56	5.56	0.83823	.	0.255877	0.33534	N	0.004805	T	0.22820	0.0551	N	0.14661	0.345	0.32293	N	0.565994	D	0.63046	0.992	P	0.47528	0.549	T	0.09618	-1.0666	10	0.66056	D	0.02	-1.5786	16.7201	0.85408	0.0:0.1288:0.8712:0.0	.	759	Q14686	NCOA6_HUMAN	M	759	ENSP00000363929:T759M;ENSP00000351894:T759M	ENSP00000351894:T759M	T	-	2	0	NCOA6	32801383	1.000000	0.71417	0.997000	0.53966	0.919000	0.55068	4.403000	0.59729	2.890000	0.99128	0.655000	0.94253	ACG		0.542	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	280	0	0	0	1	0	4	280				
NBPF9	400818	broad.mit.edu	37	1	144814702	144814702	+	Missense_Mutation	SNP	G	G	T	rs202229831	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:144814702G>T	ENST00000440491.2	+	3	340	c.340G>T	c.(340-342)Gct>Tct	p.A114S	NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.A114S	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	372						cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						CCTGGTTCACGCTCAGGAACG	0.493													.|||	28	0.00559105	0.0174	0.0029	5008	,	,		21849	0.001		0.002	False		,,,				2504	0.0					ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(340-342)Gct>Tct		neuroblastoma breakpoint family, member 9							74.0	58.0	63.0					1																	144814702		692	1588	2280	SO:0001583	missense	400818							g.chr1:144814702G>T		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.340G>T	1.37:g.144814702G>T	ENSP00000390934:p.Ala114Ser					NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.A114S	p.A114S	NM_001037675.2	NP_001032764.1					3	340	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.340G>T		.	.	.	.	.	.	.	.	.	.	.	0.001	-3.251443	0.00022	.	.	ENSG00000168614	ENST00000338347;ENST00000440491	T;T	0.03468	3.92;3.94	0.618	-1.24	0.09435	.	.	.	.	.	T	0.00384	0.0012	.	.	.	0.09310	N	0.999997	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.49995	-0.8879	8	0.02654	T	1	.	6.752	0.23491	0.1656:0.0:0.6575:0.177	.	372;112	Q3BBV1;A2BGT5	NBPFK_HUMAN;.	S	114	ENSP00000342975:A114S;ENSP00000390934:A114S	ENSP00000342975:A114S	A	+	1	0	NBPF9	143526059	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.627000	0.00410	-4.662000	0.00037	-3.692000	0.00024	GCT		0.493	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		7	758	1	0	3.86212e-05	1	4.07818e-05	7	758				
MRPS33	51650	broad.mit.edu	37	7	140710243	140710243	+	Missense_Mutation	SNP	G	G	A	rs369862542		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr7:140710243G>A	ENST00000393008.3	-	2	346	c.191C>T	c.(190-192)aCg>aTg	p.T64M	MRPS33_ENST00000496958.1_Missense_Mutation_p.T64M|MRPS33_ENST00000467334.1_Missense_Mutation_p.T54M|MRPS33_ENST00000472343.1_5'Flank|MRPS33_ENST00000324787.5_Missense_Mutation_p.T64M|MRPS33_ENST00000469351.1_Missense_Mutation_p.T64M	NM_016071.3	NP_057155.1	Q9Y291	RT33_HUMAN	mitochondrial ribosomal protein S33	64					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(1)|kidney(1)	4	Melanoma(164;0.00956)					AAATCGGAGCGTCTGCATGAG	0.413																																						ENST00000393008.3																			0				breast(2)|endometrium(1)|kidney(1)	4						c.(190-192)aCg>aTg		mitochondrial ribosomal protein S33		G	MET/THR,MET/THR	0,4406		0,0,2203	158.0	149.0	152.0		191,191	-4.8	0.0	7		152	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	MRPS33	NM_016071.3,NM_053035.2	81,81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	64/107,64/107	140710243	2,13004	2203	4300	6503	SO:0001583	missense	51650				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr7:140710243G>A	AF078858	CCDS5864.1	7q34	2012-09-13			ENSG00000090263	ENSG00000090263		"""Mitochondrial ribosomal proteins / small subunits"""	16634	protein-coding gene	gene with protein product		611993				11279123, 10810093	Standard	NM_016071		Approved	CGI-139	uc003vwe.4	Q9Y291	OTTHUMG00000157456	ENST00000393008.3:c.191C>T	7.37:g.140710243G>A	ENSP00000376732:p.Thr64Met					MRPS33_ENST00000469351.1_Missense_Mutation_p.T64M|MRPS33_ENST00000467334.1_Missense_Mutation_p.T54M|MRPS33_ENST00000496958.1_Missense_Mutation_p.T64M|MRPS33_ENST00000324787.5_Missense_Mutation_p.T64M	p.T64M	NM_016071.3	NP_057155.1	Q9Y291	RT33_HUMAN			2	346	-	Melanoma(164;0.00956)		64						Missense_Mutation	SNP	ENST00000393008.3	37	c.191C>T	CCDS5864.1	.	.	.	.	.	.	.	.	.	.	G	9.817	1.184686	0.21870	0.0	2.33E-4	ENSG00000090263	ENST00000544013;ENST00000393008;ENST00000324787;ENST00000496958;ENST00000469351;ENST00000467334	.	.	.	5.1	-4.84	0.03151	.	0.517024	0.23549	N	0.046999	T	0.20780	0.0500	N	0.16368	0.405	0.09310	N	0.999996	D	0.69078	0.997	P	0.56514	0.8	T	0.25363	-1.0134	9	0.28530	T	0.3	-2.3832	5.3	0.15773	0.4111:0.0:0.2195:0.3694	.	64	Q9Y291	RT33_HUMAN	M	64;64;64;64;64;54	.	ENSP00000320567:T64M	T	-	2	0	MRPS33	140356712	0.093000	0.21703	0.010000	0.14722	0.057000	0.15508	0.429000	0.21412	-0.574000	0.05990	0.467000	0.42956	ACG		0.413	MRPS33-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348878.1	NM_053035		61	307	0	0	0	1	0	61	307				
SSH1	54434	broad.mit.edu	37	12	109186420	109186420	+	Missense_Mutation	SNP	C	C	T	rs146699038	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr12:109186420C>T	ENST00000326495.5	-	14	1628	c.1535G>A	c.(1534-1536)cGg>cAg	p.R512Q	SSH1_ENST00000360239.3_Missense_Mutation_p.R200Q|SSH1_ENST00000551165.1_Missense_Mutation_p.R512Q|SSH1_ENST00000326470.5_Missense_Mutation_p.R523Q	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	512					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGAGAGTCGCCGGAAACAGCA	0.637													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15695	0.0		0.0	False		,,,				2504	0.0					ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1534-1536)cGg>cAg		slingshot protein phosphatase 1		C	GLN/ARG,GLN/ARG,GLN/ARG	8,4394		0,8,2193	31.0	38.0	36.0		1535,1568,1535	4.6	0.8	12	dbSNP_134	36	0,8594		0,0,4297	yes	missense,missense,missense	SSH1	NM_001161330.1,NM_001161331.1,NM_018984.3	43,43,43	0,8,6490	TT,TC,CC		0.0,0.1817,0.0616	probably-damaging,probably-damaging,probably-damaging	512/693,523/704,512/1050	109186420	8,12988	2201	4297	6498	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109186420C>T	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1535G>A	12.37:g.109186420C>T	ENSP00000315713:p.Arg512Gln					SSH1_ENST00000326470.5_Missense_Mutation_p.R523Q|SSH1_ENST00000551165.1_Missense_Mutation_p.R512Q|SSH1_ENST00000360239.3_Missense_Mutation_p.R200Q	p.R512Q	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			14	1628	-			512					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.1535G>A	CCDS9121.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.68	2.607225	0.46527	0.001817	0.0	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	T;T;T;T	0.15834	2.39;2.4;2.49;2.46	5.48	4.6	0.57074	.	3.113600	0.01024	N	0.004037	T	0.23054	0.0557	M	0.71581	2.175	0.39015	D	0.959636	P;B;P;P	0.39624	0.681;0.218;0.569;0.681	B;B;B;B	0.26614	0.071;0.016;0.07;0.071	T	0.39563	-0.9608	10	0.37606	T	0.19	-25.6956	12.894	0.58089	0.0:0.9248:0.0:0.0752	.	523;512;512;200	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	Q	200;512;512;523	ENSP00000353374:R200Q;ENSP00000315713:R512Q;ENSP00000448824:R512Q;ENSP00000326107:R523Q	ENSP00000326107:R523Q	R	-	2	0	SSH1	107710549	0.990000	0.36364	0.815000	0.32552	0.069000	0.16628	2.653000	0.46691	1.460000	0.47911	-0.136000	0.14681	CGG		0.637	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		7	254	0	0	0	1	0	7	254				
MUC16	94025	broad.mit.edu	37	19	9074660	9074660	+	Silent	SNP	G	G	T	rs377588927		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:9074660G>T	ENST00000397910.4	-	3	12989	c.12786C>A	c.(12784-12786)atC>atA	p.I4262I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4264	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATGGCCTGGGATAGGAGAAT	0.468																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(12784-12786)atC>atA		mucin 16, cell surface associated							126.0	125.0	125.0					19																	9074660		2010	4166	6176	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074660G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12786C>A	19.37:g.9074660G>T							p.I4262I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	12989	-			4264			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.12786C>A	CCDS54212.1																																																																																				0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	255	1	0	0.00307968	1	0.00316348	7	255				
ZNF679	168417	broad.mit.edu	37	7	63720697	63720697	+	Silent	SNP	A	A	G			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr7:63720697A>G	ENST00000421025.1	+	3	407	c.138A>G	c.(136-138)ttA>ttG	p.L46L	ZNF679_ENST00000255746.4_Silent_p.L46L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATGTGATGTTAGAGAACTACA	0.378																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(136-138)ttA>ttG		zinc finger protein 679							47.0	42.0	44.0					7																	63720697		692	1591	2283	SO:0001819	synonymous_variant	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63720697A>G	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.138A>G	7.37:g.63720697A>G						ZNF679_ENST00000255746.4_Silent_p.L46L	p.L46L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			3	407	+			46			KRAB.			Silent	SNP	ENST00000421025.1	37	c.138A>G	CCDS47592.1																																																																																				0.378	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		7	809	0	0	0	1	0	7	809				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_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		50	227	0	0	0	1	0	50	227				
BMS1P20	96610	broad.mit.edu	37	22	22661721	22661721	+	RNA	SNP	G	G	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr22:22661721G>T	ENST00000426066.1	+	0	500					NR_027293.1				BMS1 pseudogene 20																		TTTTAGCTTTGTGCTTTTCCT	0.378																																						ENST00000426066.1																			0																																																			0							g.chr22:22661721G>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661721G>T								NR_027293.1						0	500	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.378	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	71	1	0	0.00198382	1	0.00205176	4	71				
ADAMTSL4	54507	broad.mit.edu	37	1	150530955	150530955	+	Missense_Mutation	SNP	G	G	A	rs138636937		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:150530955G>A	ENST00000369038.2	+	13	2590	c.2389G>A	c.(2389-2391)Gtg>Atg	p.V797M	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.V797M|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.V797M|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.V820M			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	797	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCAGTGCTCCGTGCGGTGCGG	0.647																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(2389-2391)Gtg>Atg		ADAMTS-like 4		G	MET/VAL,MET/VAL	0,4404		0,0,2202	27.0	30.0	29.0		2389,2389	4.9	0.8	1	dbSNP_134	29	1,8593		0,1,4296	no	missense,missense	ADAMTSL4	NM_019032.4,NM_025008.3	21,21	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	797/1075,797/878	150530955	1,12997	2202	4297	6499	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150530955G>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2389G>A	1.37:g.150530955G>A	ENSP00000358034:p.Val797Met					ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.V820M|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.V797M|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.V797M	p.V797M	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		15	2625	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		797			TSP type-1 3.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.2389G>A	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516530	0.64634	0.0	1.16E-4	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000407995;ENST00000369039;ENST00000369038	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	4.91	4.91	0.64330	.	.	.	.	.	T	0.79924	0.4530	M	0.90198	3.095	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.997;0.992	D	0.83613	0.0135	9	0.66056	D	0.02	.	15.633	0.76926	0.0:0.0:1.0:0.0	.	758;820;797;797	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	M	797;797;335;820;797	ENSP00000358037:V797M;ENSP00000271643:V797M;ENSP00000358035:V820M;ENSP00000358034:V797M	ENSP00000271643:V797M	V	+	1	0	ADAMTSL4	148797579	1.000000	0.71417	0.776000	0.31678	0.216000	0.24613	9.034000	0.93747	2.549000	0.85964	0.462000	0.41574	GTG		0.647	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		37	114	0	0	0	1	0	37	114				
DUOX1	53905	broad.mit.edu	37	15	45433521	45433521	+	Nonsense_Mutation	SNP	C	C	T	rs564683577		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr15:45433521C>T	ENST00000321429.4	+	15	2004	c.1597C>T	c.(1597-1599)Cga>Tga	p.R533*	DUOX1_ENST00000561166.1_Nonsense_Mutation_p.R179*|DUOX1_ENST00000389037.3_Nonsense_Mutation_p.R533*	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	533	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGAAGAAATCCGAAATACCAC	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20235	0.0		0.0	False		,,,				2504	0.0					ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(1597-1599)Cga>Tga		dual oxidase 1							115.0	106.0	109.0					15																	45433521		2198	4298	6496	SO:0001587	stop_gained	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45433521C>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1597C>T	15.37:g.45433521C>T	ENSP00000317997:p.Arg533*					DUOX1_ENST00000389037.3_Nonsense_Mutation_p.R533*|DUOX1_ENST00000561166.1_Nonsense_Mutation_p.R179*	p.R533*	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	15	2004	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	533			Peroxidase-like; mediates peroxidase activity.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Nonsense_Mutation	SNP	ENST00000321429.4	37	c.1597C>T	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	37	6.140306	0.97320	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	.	.	.	4.53	2.15	0.27550	.	0.095326	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0907	10.5604	0.45142	0.4411:0.5589:0.0:0.0	.	.	.	.	X	533	.	ENSP00000317997:R533X	R	+	1	2	DUOX1	43220813	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	2.572000	0.45999	0.336000	0.23639	-0.271000	0.10264	CGA		0.527	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		11	272	0	0	0	1	0	11	272				
DMD	1756	broad.mit.edu	37	X	32663260	32663260	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chrX:32663260C>T	ENST00000357033.4	-	10	1176	c.970G>A	c.(970-972)Gct>Act	p.A324T	DMD_ENST00000378677.2_Missense_Mutation_p.A320T|DMD_ENST00000288447.4_Missense_Mutation_p.A316T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	324					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTCAGGAGCTTCCAAATGC	0.348																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(970-972)Gct>Act		dystrophin							119.0	107.0	111.0					X																	32663260		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32663260C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.970G>A	X.37:g.32663260C>T	ENSP00000354923:p.Ala324Thr					DMD_ENST00000378677.2_Missense_Mutation_p.A320T|DMD_ENST00000288447.4_Missense_Mutation_p.A316T	p.A324T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			10	1176	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	324					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.970G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	3.513	-0.099324	0.07010	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.72615	0.16;0.16;-0.67	5.67	2.85	0.33270	.	0.197530	0.24231	U	0.040342	T	0.40815	0.1132	N	0.05078	-0.115	0.80722	D	1	B;B;B;B;B	0.10296	0.0;0.0;0.002;0.003;0.001	B;B;B;B;B	0.10450	0.0;0.0;0.005;0.002;0.002	T	0.32188	-0.9916	10	0.02654	T	1	.	7.4854	0.27429	0.0:0.574:0.0:0.426	.	320;316;316;324;320	B1AK23;Q4G0X0;P11532-4;P11532;E9PDN5	.;.;.;DMD_HUMAN;.	T	316;320;324;324;201;316	ENSP00000367948:A320T;ENSP00000354923:A324T;ENSP00000288447:A316T	ENSP00000288447:A316T	A	-	1	0	DMD	32573181	0.963000	0.33076	1.000000	0.80357	0.984000	0.73092	-0.020000	0.12525	0.611000	0.30052	0.600000	0.82982	GCT		0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		8	437	0	0	0	1	0	8	437				
DYNC2H1	79659	broad.mit.edu	37	11	103027117	103027117	+	Splice_Site	SNP	G	G	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:103027117G>T	ENST00000375735.2	+	26	3889	c.3745G>T	c.(3745-3747)Gat>Tat	p.D1249Y	DYNC2H1_ENST00000398093.3_Splice_Site_p.D1249Y|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1249	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGTTAAATAGGATTTAAATAG	0.284																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.e26-1		dynein, cytoplasmic 2, heavy chain 1							29.0	29.0	29.0					11																	103027117		1811	4071	5882	SO:0001630	splice_region_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103027117G>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3745-1G>T	11.37:g.103027117G>T						DYNC2H1_ENST00000398093.3_Splice_Site_p.D1249_splice|DYNC2H1_ENST00000334267.7_Intron	p.D1249_splice	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	26	3889	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1249			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Splice_Site	SNP	ENST00000375735.2	37	c.3744_splice	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300875	0.60195	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.62639	0.01;0.01	5.27	5.27	0.74061	Dynein heavy chain, domain-2 (1);	0.197764	0.33895	N	0.004459	T	0.76140	0.3946	M	0.88181	2.935	0.80722	D	1	B;B	0.33171	0.4;0.348	B;B	0.43123	0.409;0.301	T	0.76817	-0.2819	9	.	.	.	.	18.8855	0.92376	0.0:0.0:1.0:0.0	.	1249;1249	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	Y	1249	ENSP00000364887:D1249Y;ENSP00000381167:D1249Y	.	D	+	1	0	DYNC2H1	102532327	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.376000	0.79658	2.472000	0.83506	0.563000	0.77884	GAT		0.284	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	Missense_Mutation	21	102	1	0	2.70639e-06	1	2.89834e-06	21	102				
PPARGC1A	10891	broad.mit.edu	37	4	23830129	23830129	+	Silent	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr4:23830129G>A	ENST00000264867.2	-	5	770	c.651C>T	c.(649-651)aaC>aaT	p.N217N	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	217					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GAGGGTCATCGTTTGTGGTCA	0.468																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(649-651)aaC>aaT		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							381.0	346.0	357.0					4																	23830129		2203	4300	6503	SO:0001819	synonymous_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23830129G>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.651C>T	4.37:g.23830129G>A						PPARGC1A_ENST00000509702.1_5'UTR	p.N217N	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			5	770	-		Breast(46;0.0503)	217					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	c.651C>T	CCDS3429.1																																																																																				0.468	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		12	553	0	0	0	1	0	12	553				
L1CAM	3897	broad.mit.edu	37	X	153134383	153134383	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chrX:153134383G>A	ENST00000370060.1	-	12	1481	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	431	Ig-like C2-type 5.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGATTGTCCGCAGTCAGGAT	0.617																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1291-1293)gCg>gTg		L1 cell adhesion molecule							128.0	97.0	107.0					X																	153134383		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153134383G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1292C>T	X.37:g.153134383G>A	ENSP00000359077:p.Ala431Val					L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V	p.A431V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			12	1481	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		431			Ig-like C2-type 5.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1292C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	7.720	0.696948	0.15106	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.60424	0.19;0.2;0.19;0.21;0.23;0.23;0.19	5.53	0.212	0.15240	Immunoglobulin-like (1);	1.465370	0.04158	N	0.322492	T	0.44540	0.1298	L	0.29908	0.895	0.09310	N	1	B;B;B	0.20164	0.034;0.017;0.042	B;B;B	0.16722	0.009;0.006;0.016	T	0.34477	-0.9827	10	0.62326	D	0.03	.	4.1815	0.10378	0.0831:0.2626:0.4422:0.212	.	426;431;431	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	431;433;431;433;426;426;431	ENSP00000359077:A431V;ENSP00000438430:A433V;ENSP00000359074:A431V;ENSP00000439645:A433V;ENSP00000354712:A426V;ENSP00000359072:A426V;ENSP00000355380:A431V	ENSP00000355380:A431V	A	-	2	0	L1CAM	152787577	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.054000	0.14205	-0.087000	0.12528	-0.347000	0.07816	GCG		0.617	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		5	269	0	0	0	1	0	5	269				
CTNNA2	1496	broad.mit.edu	37	2	79971679	79971679	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:79971679T>G	ENST00000402739.4	+	2	274	c.269T>G	c.(268-270)gTg>gGg	p.V90G	CTNNA2_ENST00000541047.1_Missense_Mutation_p.V90G|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V90G|CTNNA2_ENST00000466387.1_Missense_Mutation_p.V90G|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V90G|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V124G	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	90					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAAGAGTTGGTGGCTGCTGTA	0.443																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(268-270)gTg>gGg		catenin (cadherin-associated protein), alpha 2							91.0	96.0	94.0					2																	79971679		2026	4202	6228	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:79971679T>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.269T>G	2.37:g.79971679T>G	ENSP00000384638:p.Val90Gly					CTNNA2_ENST00000540488.1_Missense_Mutation_p.V90G|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V90G|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V90G|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V90G|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V124G	p.V90G			P26232	CTNA2_HUMAN			7	993	+			90					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.269T>G		.	.	.	.	.	.	.	.	.	.	T	16.78	3.219037	0.58560	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000409971;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.5	5.5	0.81552	.	0.140504	0.47852	D	0.000201	T	0.19406	0.0466	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.10497	-1.0627	10	0.15066	T	0.55	.	13.5514	0.61734	0.0:0.0:0.0:1.0	.	90;90;90	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	G	90;90;90;124;90;90;90	ENSP00000418191:V90G;ENSP00000419295:V90G;ENSP00000387073:V90G;ENSP00000355398:V124G;ENSP00000384638:V90G;ENSP00000444675:V90G;ENSP00000441705:V90G	ENSP00000355398:V124G	V	+	2	0	CTNNA2	79825187	1.000000	0.71417	0.964000	0.40570	0.951000	0.60555	6.280000	0.72626	2.091000	0.63221	0.383000	0.25322	GTG		0.443	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		5	162	0	0	0	1	0	5	162				
FLNC	2318	broad.mit.edu	37	7	128480725	128480725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr7:128480725G>A	ENST00000325888.8	+	10	1934	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H	FLNC_ENST00000346177.6_Missense_Mutation_p.R558H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	558					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCCATCCCTCGCAGGTGAGTA	0.637																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(1672-1674)cGc>cAc		filamin C, gamma							126.0	140.0	135.0					7																	128480725		2108	4216	6324	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128480725G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1673G>A	7.37:g.128480725G>A	ENSP00000327145:p.Arg558His					FLNC_ENST00000346177.6_Missense_Mutation_p.R558H	p.R558H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			10	1934	+			558					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.1673G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708659	0.68615	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.91894	-2.93;-2.93	5.02	5.02	0.67125	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.059561	0.64402	D	0.000004	D	0.94345	0.8182	L	0.53249	1.67	0.47183	D	0.999344	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.953	D	0.94549	0.7752	10	0.87932	D	0	.	12.2416	0.54546	0.0893:0.0:0.9107:0.0	.	558;558	Q14315-2;Q14315	.;FLNC_HUMAN	H	558	ENSP00000327145:R558H;ENSP00000344002:R558H	ENSP00000327145:R558H	R	+	2	0	FLNC	128267961	0.981000	0.34729	1.000000	0.80357	0.037000	0.13140	4.138000	0.58017	2.327000	0.79052	0.491000	0.48974	CGC		0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			43	338	0	0	0	1	0	43	338				
BCL11A	53335	broad.mit.edu	37	2	60688929	60688929	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:60688929G>A	ENST00000335712.6	-	4	1345	c.1118C>T	c.(1117-1119)cCg>cTg	p.P373L	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.P373L|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.P339L|BCL11A_ENST00000538214.1_Missense_Mutation_p.P339L|BCL11A_ENST00000537768.1_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	373	Pro-rich.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGACTTGACCGGGGGCTGGGA	0.627			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1117-1119)cCg>cTg		B-cell CLL/lymphoma 11A (zinc finger protein)							45.0	53.0	51.0					2																	60688929		2200	4295	6495	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688929G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1118C>T	2.37:g.60688929G>A	ENSP00000338774:p.Pro373Leu					BCL11A_ENST00000356842.4_Missense_Mutation_p.P373L|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.P339L|BCL11A_ENST00000538214.1_Missense_Mutation_p.P339L	p.P373L	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1345	-			373			Pro-rich.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1118C>T	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.783620	0.31593	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.10288	2.89;3.11;3.12;3.03	5.74	4.84	0.62591	.	0.186906	0.46442	D	0.000293	T	0.16471	0.0396	M	0.61703	1.905	0.80722	D	1	B;D;B;P	0.56746	0.334;0.977;0.226;0.652	B;B;B;B	0.43194	0.063;0.411;0.017;0.044	T	0.02126	-1.1209	10	0.54805	T	0.06	-1.7699	16.5742	0.84633	0.0:0.1305:0.8695:0.0	.	339;339;373;373	F5H2Y4;Q9H165-6;Q9H165;D9YZV9	.;.;BC11A_HUMAN;.	L	373;409;339;373;339	ENSP00000349300:P373L;ENSP00000438303:P339L;ENSP00000338774:P373L;ENSP00000351307:P339L	ENSP00000338774:P373L	P	-	2	0	BCL11A	60542433	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.309000	0.65774	1.392000	0.46585	0.655000	0.94253	CCG		0.627	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		44	217	0	0	0	1	0	44	217				
PHF8	23133	broad.mit.edu	37	X	54069187	54069187	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chrX:54069187C>T	ENST00000357988.5	-	2	441	c.83G>A	c.(82-84)cGc>cAc	p.R28H	PHF8_ENST00000322659.8_5'UTR|PHF8_ENST00000338946.6_5'UTR|PHF8_ENST00000338154.6_5'UTR|PHF8_ENST00000462182.1_5'Flank	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	28					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GAGCGTTCTGCGGCCGGCCAG	0.597											OREG0019805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357988.5																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(82-84)cGc>cAc		PHD finger protein 8							37.0	27.0	30.0					X																	54069187		2200	4297	6497	SO:0001583	missense	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54069187C>T	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.83G>A	X.37:g.54069187C>T	ENSP00000350676:p.Arg28His		OREG0019805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	997	PHF8_ENST00000338946.6_5'UTR|PHF8_ENST00000338154.6_5'UTR|PHF8_ENST00000322659.8_5'UTR	p.R28H	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN			2	441	-			28					B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	c.83G>A	CCDS55420.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883919	0.33255	.	.	ENSG00000172943	ENST00000357988;ENST00000396277;ENST00000453905	T;T	0.18657	2.49;2.2	5.14	0.16	0.14972	.	1.117560	0.06850	N	0.797139	T	0.10852	0.0265	N	0.08118	0	0.19300	N	0.999971	B	0.02656	0.0	B	0.01281	0.0	T	0.34204	-0.9838	10	0.62326	D	0.03	0.9987	5.5865	0.17277	0.0:0.5422:0.1305:0.3273	.	28	Q9UPP1	PHF8_HUMAN	H	28;22;28	ENSP00000350676:R28H;ENSP00000405897:R28H	ENSP00000350676:R28H	R	-	2	0	PHF8	54085912	0.707000	0.27866	0.000000	0.03702	0.006000	0.05464	1.015000	0.29963	-0.365000	0.08076	-0.994000	0.02522	CGC		0.597	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		4	39	0	0	0	1	0	4	39				
TIAM2	26230	broad.mit.edu	37	6	155451469	155451469	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:155451469C>T	ENST00000461783.3	+	6	2385	c.1112C>T	c.(1111-1113)gCg>gTg	p.A371V	TIAM2_ENST00000360366.4_Missense_Mutation_p.A371V|TIAM2_ENST00000456144.1_Missense_Mutation_p.A371V|TIAM2_ENST00000529824.2_Missense_Mutation_p.A371V|TIAM2_ENST00000318981.5_Missense_Mutation_p.A371V|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	371					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAGGATACTGCGAAGAAGGAC	0.547																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(1111-1113)gCg>gTg		T-cell lymphoma invasion and metastasis 2							72.0	70.0	71.0					6																	155451469		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155451469C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1112C>T	6.37:g.155451469C>T	ENSP00000437188:p.Ala371Val					TIAM2_ENST00000529824.2_Missense_Mutation_p.A371V|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.A371V|TIAM2_ENST00000456144.1_Missense_Mutation_p.A371V|TIAM2_ENST00000360366.4_Missense_Mutation_p.A371V	p.A371V			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	2385	+		Ovarian(120;0.196)	371					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.1112C>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126396	0.37533	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05382	3.57;3.45;3.51;3.57;3.57;3.51	5.29	5.29	0.74685	.	0.813614	0.11671	N	0.540830	T	0.03608	0.0103	L	0.40543	1.245	0.47407	D	0.999411	B	0.29909	0.261	B	0.19148	0.024	T	0.35276	-0.9795	10	0.59425	D	0.04	.	17.1487	0.86773	0.0:1.0:0.0:0.0	.	371	Q8IVF5	TIAM2_HUMAN	V	371;617;371;371;371;371;371	ENSP00000437188:A371V;ENSP00000434901:A371V;ENSP00000407746:A371V;ENSP00000327315:A371V;ENSP00000353528:A371V;ENSP00000433348:A371V	ENSP00000327315:A371V	A	+	2	0	TIAM2	155493161	0.002000	0.14202	0.364000	0.25888	0.430000	0.31655	1.419000	0.34793	2.489000	0.83994	0.655000	0.94253	GCG		0.547	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		12	199	0	0	0	1	0	12	199				
VPS25	84313	broad.mit.edu	37	17	40925498	40925498	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:40925498C>A	ENST00000253794.2	+	1	45	c.5C>A	c.(4-6)gCg>gAg	p.A2E		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	2					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 membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		ACTACGATGGCGATGAGTTTC	0.612																																						ENST00000253794.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5						c.(4-6)gCg>gAg		vacuolar protein sorting 25 homolog (S. cerevisiae)							185.0	159.0	168.0					17																	40925498		2203	4300	6503	SO:0001583	missense	84313				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm		g.chr17:40925498C>A	AB014763	CCDS11438.1	17q21.31	2014-02-12	2006-04-04		ENSG00000131475	ENSG00000131475			28122	protein-coding gene	gene with protein product		610907	"""vacuolar protein sorting 25 (yeast)"""			15511219	Standard	NM_032353		Approved	MGC10540, EAP20, DERP9	uc002ibi.3	Q9BRG1		ENST00000253794.2:c.5C>A	17.37:g.40925498C>A	ENSP00000253794:p.Ala2Glu						p.A2E	NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	1	45	+		Breast(137;0.00104)	2					B2R581	Missense_Mutation	SNP	ENST00000253794.2	37	c.5C>A	CCDS11438.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496557	0.64186	.	.	ENSG00000131475	ENST00000253794	T	0.47869	0.83	4.95	4.95	0.65309	.	0.067954	0.56097	D	0.000024	T	0.35799	0.0944	N	0.24115	0.695	0.48341	D	0.999631	B	0.11235	0.004	B	0.11329	0.006	T	0.19811	-1.0294	10	0.62326	D	0.03	-16.8888	13.689	0.62533	0.0:1.0:0.0:0.0	.	2	Q9BRG1	VPS25_HUMAN	E	2	ENSP00000253794:A2E	ENSP00000253794:A2E	A	+	2	0	VPS25	38179024	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.300000	0.43620	2.292000	0.77174	0.491000	0.48974	GCG		0.612	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452383.1	NM_032353		88	552	1	0	4.25105e-50	1	4.75488e-50	88	552				
HIST1H2BF	8343	broad.mit.edu	37	6	26199947	26199947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:26199947G>A	ENST00000359985.1	+	1	200	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3D_ENST00000377831.5_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	54					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CCCGACACCGGCATCTCATCC	0.567																																						ENST00000359985.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17						c.(160-162)gGc>gAc		histone cluster 1, H2bf							222.0	205.0	211.0					6																	26199947		2203	4300	6503	SO:0001583	missense	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26199947G>A	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.161G>A	6.37:g.26199947G>A	ENSP00000353074:p.Gly54Asp						p.G54D	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN			1	200	+		all_hematologic(11;0.196)	54					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000359985.1	37	c.161G>A	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	16.80	3.222980	0.58668	.	.	ENSG00000197846	ENST00000359985	T	0.69435	-0.4	3.89	3.89	0.44902	.	0.000000	0.42172	D	0.000755	T	0.73442	0.3587	.	.	.	0.41511	D	0.988346	.	.	.	.	.	.	T	0.78807	-0.2059	7	0.87932	D	0	.	15.7145	0.77658	0.0:0.0:1.0:0.0	.	.	.	.	D	54	ENSP00000353074:G54D	ENSP00000353074:G54D	G	+	2	0	HIST1H2BF	26307926	1.000000	0.71417	0.996000	0.52242	0.014000	0.08584	9.518000	0.98022	2.102000	0.63906	0.650000	0.86243	GGC		0.567	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		7	855	0	0	0	1	0	7	855				
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1				BMS1 pseudogene 20																		CAGATGCGTCTGAAGAAACAT	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661478T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661478T>G								NR_027293.1						0	368	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			9	235	0	0	0	1	0	9	235				
DYSF	8291	broad.mit.edu	37	2	71742844	71742844	+	Missense_Mutation	SNP	C	C	T	rs398123802		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:71742844C>T	ENST00000258104.3	+	7	1032	c.755C>T	c.(754-756)aCg>aTg	p.T252M	DYSF_ENST00000409744.1_Missense_Mutation_p.T253M|DYSF_ENST00000409651.1_Missense_Mutation_p.T284M|DYSF_ENST00000410020.3_Missense_Mutation_p.T284M|DYSF_ENST00000410041.1_Missense_Mutation_p.T284M|DYSF_ENST00000394120.2_Missense_Mutation_p.T253M|DYSF_ENST00000409582.3_Missense_Mutation_p.T283M|DYSF_ENST00000413539.2_Missense_Mutation_p.T283M|DYSF_ENST00000429174.2_Missense_Mutation_p.T252M|DYSF_ENST00000409762.1_Missense_Mutation_p.T283M|DYSF_ENST00000409366.1_Missense_Mutation_p.T253M	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	252	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCAAGCGGACGCGGATCCAC	0.612																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(754-756)aCg>aTg		dysferlin							101.0	95.0	97.0					2																	71742844		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71742844C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.755C>T	2.37:g.71742844C>T	ENSP00000258104:p.Thr252Met					DYSF_ENST00000413539.2_Missense_Mutation_p.T283M|DYSF_ENST00000410020.3_Missense_Mutation_p.T284M|DYSF_ENST00000409582.3_Missense_Mutation_p.T283M|DYSF_ENST00000409651.1_Missense_Mutation_p.T284M|DYSF_ENST00000410041.1_Missense_Mutation_p.T284M|DYSF_ENST00000409366.1_Missense_Mutation_p.T253M|DYSF_ENST00000394120.2_Missense_Mutation_p.T253M|DYSF_ENST00000409762.1_Missense_Mutation_p.T283M|DYSF_ENST00000409744.1_Missense_Mutation_p.T253M|DYSF_ENST00000429174.2_Missense_Mutation_p.T252M	p.T252M	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			7	1032	+			252			C2 2.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.755C>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899610	0.72754	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57	5.0	5.0	0.66597	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.98086	0.9369	H	0.95470	3.675	0.53688	D	0.99997	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0	D	0.99274	1.0894	10	0.87932	D	0	-14.9292	16.1703	0.81808	0.0:1.0:0.0:0.0	.	284;284;253;253;284;253;283;252;283;283;252;252;253;252	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	M	283;283;283;252;252;284;253;253;253;284;284	ENSP00000407046:T283M;ENSP00000387137:T283M;ENSP00000386547:T283M;ENSP00000398305:T252M;ENSP00000258104:T252M;ENSP00000386683:T284M;ENSP00000377678:T253M;ENSP00000386285:T253M;ENSP00000386512:T253M;ENSP00000386881:T284M;ENSP00000386617:T284M	ENSP00000258104:T252M	T	+	2	0	DYSF	71596352	1.000000	0.71417	0.934000	0.37439	0.374000	0.29953	7.351000	0.79395	2.475000	0.83589	0.549000	0.68633	ACG		0.612	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		10	239	0	0	0	1	0	10	239				
CDHR3	222256	broad.mit.edu	37	7	105673026	105673026	+	Silent	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr7:105673026G>A	ENST00000317716.9	+	19	2621	c.2541G>A	c.(2539-2541)gcG>gcA	p.A847A	CDHR3_ENST00000478080.1_Silent_p.A759A|CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000542731.1_Silent_p.A847A	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	847					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GTGGCAAAGCGTGGGCTGAGG	0.577																																						ENST00000542731.1																			0				breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						c.(2539-2541)gcG>gcA		cadherin-related family member 3							79.0	86.0	83.0					7																	105673026		2098	4238	6336	SO:0001819	synonymous_variant	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105673026G>A	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2541G>A	7.37:g.105673026G>A						CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000317716.9_Silent_p.A847A|CDHR3_ENST00000478080.1_Silent_p.A759A	p.A847A			Q6ZTQ4	CDHR3_HUMAN			19	2649	+			847					Q8TCI7	Silent	SNP	ENST00000317716.9	37	c.2541G>A	CCDS47684.1																																																																																				0.577	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		9	163	0	0	0	1	0	9	163				
OR1N2	138882	broad.mit.edu	37	9	125316158	125316158	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:125316158G>A	ENST00000373688.2	+	1	768	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	237			R -> C (in dbSNP:rs41316976).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTATGTCCGCATTTTCTGG	0.517																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(709-711)cGc>cAc		olfactory receptor, family 1, subfamily N, member 2							252.0	239.0	243.0					9																	125316158		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316158G>A		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.710G>A	9.37:g.125316158G>A	ENSP00000362792:p.Arg237His						p.R237H	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	768	+			237		R -> C (in dbSNP:rs41316976).			A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.710G>A	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	1.404	-0.577288	0.03854	.	.	ENSG00000171501	ENST00000373688	T	0.00107	8.72	4.56	-0.82	0.10826	GPCR, rhodopsin-like superfamily (1);	0.976894	0.08366	N	0.956924	T	0.00109	0.0003	N	0.17594	0.5	0.09310	N	1	B	0.16396	0.017	B	0.20184	0.028	T	0.01225	-1.1413	10	0.28530	T	0.3	.	4.6663	0.12668	0.5603:0.0:0.2724:0.1672	.	237	Q8NGR9	OR1N2_HUMAN	H	237	ENSP00000362792:R237H	ENSP00000362792:R237H	R	+	2	0	OR1N2	124355979	0.000000	0.05858	0.004000	0.12327	0.987000	0.75469	-2.545000	0.00933	-0.028000	0.13850	0.644000	0.83932	CGC		0.517	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			5	513	0	0	0	1	0	5	513				
COQ3	51805	broad.mit.edu	37	6	99831606	99831606	+	Silent	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:99831606G>A	ENST00000254759.3	-	2	225	c.201C>T	c.(199-201)atC>atT	p.I67I	COQ3_ENST00000369242.1_5'UTR|COQ3_ENST00000479163.1_5'UTR	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	67					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		AACAGGAAAAGATCGTCCTGT	0.338																																						ENST00000254759.3																			0				cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8						c.(199-201)atC>atT		coenzyme Q3 methyltransferase							83.0	89.0	87.0					6																	99831606		2203	4299	6502	SO:0001819	synonymous_variant	51805				glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity	g.chr6:99831606G>A	AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"""polyprenyldihydroxybenzoate methyltransferase"""	605196	"""coenzyme Q3 homolog, methyltransferase (yeast)"", ""coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"""			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.201C>T	6.37:g.99831606G>A						COQ3_ENST00000479163.1_5'UTR|COQ3_ENST00000369242.1_5'UTR	p.I67I	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0625)	2	225	-		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	67					B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Silent	SNP	ENST00000254759.3	37	c.201C>T	CCDS5042.1																																																																																				0.338	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041602.1	NM_017421		23	723	0	0	0	1	0	23	723				
GRID2	2895	broad.mit.edu	37	4	94547520	94547520	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr4:94547520T>G	ENST00000282020.4	+	14	2552	c.2294T>G	c.(2293-2295)gTt>gGt	p.V765G	GRID2_ENST00000510992.1_Missense_Mutation_p.V670G	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	765					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GGAAATACTGTTGCTGATCGG	0.388																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2293-2295)gTt>gGt		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						200.0	177.0	185.0					4																	94547520		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94547520T>G	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2294T>G	4.37:g.94547520T>G	ENSP00000282020:p.Val765Gly					GRID2_ENST00000510992.1_Missense_Mutation_p.V670G	p.V765G	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	14	2552	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	765					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.2294T>G	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.906796	0.52333	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.11604	2.76;2.76	5.13	5.13	0.70059	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.109275	0.64402	D	0.000006	T	0.11281	0.0275	L	0.34521	1.04	0.80722	D	1	B;B	0.20459	0.045;0.045	B;B	0.21917	0.037;0.037	T	0.05305	-1.0893	10	0.87932	D	0	.	15.2141	0.73250	0.0:0.0:0.0:1.0	.	670;765	E9PH24;O43424	.;GRID2_HUMAN	G	765;670	ENSP00000282020:V765G;ENSP00000421257:V670G	ENSP00000282020:V765G	V	+	2	0	GRID2	94766543	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	4.456000	0.60081	2.055000	0.61198	0.397000	0.26171	GTT		0.388	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			20	512	0	0	0	1	0	20	512				
KIAA1217	56243	broad.mit.edu	37	10	24831899	24831899	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:24831899G>T	ENST00000376454.3	+	19	3730	c.3700G>T	c.(3700-3702)Gaa>Taa	p.E1234*	KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376451.2_Nonsense_Mutation_p.E917*|KIAA1217_ENST00000396446.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1234					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGAACATCAGAATATAAAAC	0.413																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2749-2751)Gaa>Taa		KIAA1217							41.0	41.0	41.0					10																	24831899		2203	4300	6503	SO:0001587	stop_gained	56243				embryonic skeletal system development	cytoplasm		g.chr10:24831899G>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3700G>T	10.37:g.24831899G>T	ENSP00000365637:p.Glu1234*					KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.E1234*|KIAA1217_ENST00000458595.1_Intron	p.E917*			Q5T5P2	SKT_HUMAN			14	3009	+			1234					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Nonsense_Mutation	SNP	ENST00000376454.3	37	c.2749G>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	42	9.260198	0.99117	.	.	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000450158;ENST00000376451	.	.	.	5.42	4.5	0.54988	.	0.360938	0.28062	N	0.016754	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	15.1525	0.72713	0.0:0.1417:0.8583:0.0	.	.	.	.	X	917;1234;917;917	.	ENSP00000365634:E917X	E	+	1	0	KIAA1217	24871905	0.993000	0.37304	0.790000	0.31976	0.868000	0.49771	2.681000	0.46926	1.264000	0.44198	0.561000	0.74099	GAA		0.413	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		41	152	1	0	2.6416e-12	1	2.84915e-12	41	152				
EXTL1	2134	broad.mit.edu	37	1	26359784	26359784	+	Missense_Mutation	SNP	G	G	A	rs376982523		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:26359784G>A	ENST00000374280.3	+	8	2363	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	499					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTCGATGCCCGCAGCAGTCTT	0.597																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(1495-1497)cGc>cAc		exostosin-like glycosyltransferase 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	76.0	69.0	71.0		1496	3.9	1.0	1		71	0,8600		0,0,4300	no	missense	EXTL1	NM_004455.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	499/677	26359784	1,13005	2203	4300	6503	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26359784G>A	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1496G>A	1.37:g.26359784G>A	ENSP00000363398:p.Arg499His						p.R499H	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	8	2363	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	499					Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.1496G>A	CCDS271.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464549	0.43736	2.27E-4	0.0	ENSG00000158008	ENST00000374280	T	0.75704	-0.96	5.06	3.93	0.45458	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.323633	0.33092	N	0.005297	T	0.36496	0.0969	N	0.00237	-1.79	0.27362	N	0.955932	B	0.09022	0.002	B	0.09377	0.004	T	0.37686	-0.9695	10	0.51188	T	0.08	-12.2433	7.0466	0.25048	0.8869:0.0:0.1131:0.0	.	499	Q92935	EXTL1_HUMAN	H	499	ENSP00000363398:R499H	ENSP00000363398:R499H	R	+	2	0	EXTL1	26232371	1.000000	0.71417	0.991000	0.47740	0.940000	0.58332	6.140000	0.71738	0.950000	0.37743	0.561000	0.74099	CGC		0.597	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		4	157	0	0	0	1	0	4	157				
KRT24	192666	broad.mit.edu	37	17	38857493	38857493	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:38857493G>A	ENST00000264651.2	-	3	810	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	252	Coil 1B.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				AGGACTTTCCGCAGGCCATTG	0.547																																					GBM(61;380 1051 14702 23642 31441)	ENST00000264651.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(754-756)Cgg>Tgg		keratin 24							99.0	86.0	90.0					17																	38857493		2203	4300	6503	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38857493G>A		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.754C>T	17.37:g.38857493G>A	ENSP00000264651:p.Arg252Trp						p.R252W	NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN			3	810	-		Breast(137;0.00526)	252			Coil 1B.|Rod.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.754C>T	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282977	0.40394	.	.	ENSG00000167916	ENST00000264651	D	0.92545	-3.06	5.82	1.51	0.23008	Filament (1);	.	.	.	.	D	0.97145	0.9067	H	0.96175	3.78	0.38355	D	0.944446	D	0.89917	1.0	D	0.78314	0.991	D	0.98696	1.0698	9	0.87932	D	0	.	15.8909	0.79296	0.0:0.0:0.5363:0.4637	.	252	Q2M2I5	K1C24_HUMAN	W	252	ENSP00000264651:R252W	ENSP00000264651:R252W	R	-	1	2	KRT24	36111019	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	0.336000	0.19823	0.078000	0.16900	-1.227000	0.01581	CGG		0.547	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		11	266	0	0	0	1	0	11	266				
NBPF10	100132406	broad.mit.edu	37	1	145327548	145327548	+	Missense_Mutation	SNP	A	A	G	rs202019968		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:145327548A>G	ENST00000342960.5	+	32	4140	c.4105A>G	c.(4105-4107)Aat>Gat	p.N1369D	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	712						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGACTCACTGAATAGATGTTA	0.473																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(4105-4107)Aat>Gat		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145327548A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.4105A>G	1.37:g.145327548A>G	ENSP00000345684:p.Asn1369Asp					NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.N1369D	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	32	4140	+	all_hematologic(923;0.032)		1369					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.4105A>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.181510	0.00308	.	.	ENSG00000163386	ENST00000342960	T	0.03301	3.98	1.5	-0.755	0.11061	.	.	.	.	.	T	0.00210	0.0006	N	0.00179	-1.91	0.09310	N	1	.	.	.	.	.	.	T	0.40608	-0.9554	7	0.02654	T	1	.	5.1791	0.15150	0.6356:0.0:0.3644:0.0	.	.	.	.	D	1369	ENSP00000345684:N1369D	ENSP00000345684:N1369D	N	+	1	0	NBPF10	144038905	0.003000	0.15002	0.004000	0.12327	0.050000	0.14768	-0.536000	0.06135	-0.488000	0.06726	-1.353000	0.01230	AAT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	18	0	0	0	1	0	4	18				
PHLDB2	90102	broad.mit.edu	37	3	111603672	111603672	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:111603672G>A	ENST00000431670.2	+	2	1159	c.748G>A	c.(748-750)Gga>Aga	p.G250R	PHLDB2_ENST00000393923.3_Missense_Mutation_p.G277R|PHLDB2_ENST00000478922.1_Missense_Mutation_p.G250R|PHLDB2_ENST00000481953.1_Missense_Mutation_p.G250R|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G250R|PHLDB2_ENST00000393925.3_Missense_Mutation_p.G250R|PHLDB2_ENST00000477695.1_Missense_Mutation_p.G250R	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	250						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAGTCACATGGGAGCCTACAG	0.507																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(748-750)Gga>Aga		pleckstrin homology-like domain, family B, member 2							65.0	68.0	67.0					3																	111603672		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603672G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.748G>A	3.37:g.111603672G>A	ENSP00000405405:p.Gly250Arg					PHLDB2_ENST00000393925.3_Missense_Mutation_p.G250R|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G277R|PHLDB2_ENST00000478922.1_Missense_Mutation_p.G250R|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G250R|PHLDB2_ENST00000481953.1_Missense_Mutation_p.G250R|PHLDB2_ENST00000477695.1_Missense_Mutation_p.G250R	p.G250R	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			2	1159	+			250					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.748G>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815029	0.70912	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.57273	0.44;0.62;0.46;0.41;0.62;0.46	5.4	5.4	0.78164	.	0.241259	0.41823	D	0.000803	T	0.67988	0.2952	L	0.51422	1.61	0.48185	D	0.999601	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.998;1.0	D;D;D;D;D	0.97110	0.942;1.0;1.0;0.962;0.995	T	0.69320	-0.5176	10	0.72032	D	0.01	.	16.4564	0.84019	0.0:0.0:1.0:0.0	.	250;250;250;250;277	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	R	277;277;250;250;250;250;250;250;250	ENSP00000377500:G277R;ENSP00000405405:G250R;ENSP00000405292:G250R;ENSP00000418296:G250R;ENSP00000377502:G250R;ENSP00000418319:G250R	ENSP00000352764:G277R	G	+	1	0	PHLDB2	113086362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.291000	0.65667	2.703000	0.92315	0.655000	0.94253	GGA		0.507	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		150	268	0	0	0	1	0	150	268				
FAT1	2195	broad.mit.edu	37	4	187510153	187510153	+	Missense_Mutation	SNP	C	C	T	rs367799188		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr4:187510153C>T	ENST00000441802.2	-	27	13569	c.13360G>A	c.(13360-13362)Gaa>Aaa	p.E4454K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4454					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E4454K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGCTGAATTCGGGCGGTAAC	0.527										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			1	Substitution - Missense(1)	p.E4454K(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(13360-13362)Gaa>Aaa		FAT atypical cadherin 1		C	LYS/GLU	0,3870		0,0,1935	237.0	239.0	238.0		13360	5.4	0.2	4		238	1,8265		0,1,4132	no	missense	FAT1	NM_005245.3	56	0,1,6067	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	4454/4589	187510153	1,12135	1935	4133	6068	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187510153C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.13360G>A	4.37:g.187510153C>T	ENSP00000406229:p.Glu4454Lys	HNSCC(5;0.00058)					p.E4454K	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			27	13569	-			4454						Missense_Mutation	SNP	ENST00000441802.2	37	c.13360G>A	CCDS47177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.74|18.74	3.688735|3.688735	0.68271|0.68271	0.0|0.0	1.21E-4|1.21E-4	ENSG00000083857|ENSG00000083857	ENST00000441802;ENST00000260147|ENST00000512772;ENST00000507105	T|.	0.41400|.	1.0|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74107|0.74107	0.3673|0.3673	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.70999|0.70999	-0.4719|-0.4719	10|5	0.42905|.	T|.	0.14|.	.|.	19.3098|19.3098	0.94182|0.94182	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4454|.	Q14517|.	FAT1_HUMAN|.	K|Q	4454;4456|233;221	ENSP00000406229:E4454K|.	ENSP00000260147:E4456K|.	E|R	-|-	1|2	0|0	FAT1|FAT1	187747147|187747147	1.000000|1.000000	0.71417|0.71417	0.163000|0.163000	0.22734|0.22734	0.033000|0.033000	0.12548|0.12548	7.111000|7.111000	0.77077|0.77077	2.800000|2.800000	0.96347|0.96347	0.455000|0.455000	0.32223|0.32223	GAA|CGA		0.527	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		25	903	0	0	0	1	0	25	903				
TMC7	79905	broad.mit.edu	37	16	19049313	19049313	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr16:19049313G>A	ENST00000304381.5	+	8	1253	c.1123G>A	c.(1123-1125)Gca>Aca	p.A375T	TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000569532.1_Missense_Mutation_p.A375T|TMC7_ENST00000421369.3_Missense_Mutation_p.A265T	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	375					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGTTTTAGGGGCATGCTTTTA	0.398																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(793-795)Gca>Aca		transmembrane channel-like 7							219.0	188.0	199.0					16																	19049313		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19049313G>A	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1123G>A	16.37:g.19049313G>A	ENSP00000304710:p.Ala375Thr					TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000569532.1_Missense_Mutation_p.A375T|TMC7_ENST00000304381.5_Missense_Mutation_p.A375T	p.A265T	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			8	1351	+			375					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.793G>A	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328730	0.41197	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.55052	0.54;0.54	5.5	3.44	0.39384	.	0.355140	0.27866	N	0.017521	T	0.44644	0.1303	L	0.52011	1.625	0.09310	N	1	B;B	0.33549	0.417;0.417	B;B	0.34093	0.175;0.133	T	0.46512	-0.9186	10	0.56958	D	0.05	.	9.7628	0.40543	0.0746:0.0:0.7848:0.1405	.	375;375	Q7Z402;B3KSZ3	TMC7_HUMAN;.	T	375;265	ENSP00000304710:A375T;ENSP00000397081:A265T	ENSP00000304710:A375T	A	+	1	0	TMC7	18956814	0.841000	0.29509	0.039000	0.18376	0.474000	0.32979	3.975000	0.56859	2.588000	0.87417	0.650000	0.86243	GCA		0.398	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		6	637	0	0	0	1	0	6	637				
KRTAP4-5	85289	broad.mit.edu	37	17	39305619	39305619	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:39305619G>T	ENST00000343246.4	-	1	435	c.401C>A	c.(400-402)tCt>tAt	p.S134Y		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	134	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S134Y(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ttcacagcaagaggggtggca	0.637																																						ENST00000343246.4																			2	Substitution - Missense(2)	p.S134Y(2)	lung(1)|central_nervous_system(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6						c.(400-402)tCt>tAt		keratin associated protein 4-5							22.0	21.0	22.0					17																	39305619		2194	4283	6477	SO:0001583	missense	85289					keratin filament		g.chr17:39305619G>T	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.401C>A	17.37:g.39305619G>T	ENSP00000340546:p.Ser134Tyr						p.S134Y	NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	435	-		Breast(137;0.000496)	139			27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].			Missense_Mutation	SNP	ENST00000343246.4	37	c.401C>A	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	7.535	0.659572	0.14645	.	.	ENSG00000198271	ENST00000343246	T	0.01446	4.88	3.31	-2.73	0.05950	.	0.818375	0.09819	U	0.751710	T	0.08626	0.0214	M	0.94021	3.485	0.09310	N	1	P	0.48998	0.918	P	0.49853	0.624	T	0.17531	-1.0366	10	0.52906	T	0.07	.	14.3902	0.66973	0.0:0.5611:0.4389:0.0	.	139	Q9BYR2	KRA45_HUMAN	Y	134	ENSP00000340546:S134Y	ENSP00000340546:S134Y	S	-	2	0	KRTAP4-5	36559145	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.079000	0.03410	-0.156000	0.11079	0.563000	0.77884	TCT		0.637	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			5	146	1	0	0.0215528	1	0.0216964	5	146				
AJAP1	55966	broad.mit.edu	37	1	4772583	4772585	+	In_Frame_Del	DEL	CCA	CCA	-	rs141981296	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:4772583_4772585delCCA	ENST00000378191.4	+	2	1034_1036	c.653_655delCCA	c.(652-657)gccacc>gcc	p.T225del	AJAP1_ENST00000378190.3_In_Frame_Del_p.T225del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	225	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T225_A226insT(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACTGTGGccgccaccaccaccac	0.635																																						ENST00000378191.4																			1	Insertion - In frame(1)	p.T225_A226insT(1)	large_intestine(1)	endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(652-657)gcc>g		adherens junctions associated protein 1																																				SO:0001651	inframe_deletion	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772583_4772585delCCA	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.653_655delCCA	1.37:g.4772592_4772594delCCA	ENSP00000367433:p.Thr225del					AJAP1_ENST00000378190.3_In_Frame_Del_p.AT218del	p.AT218del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	1034_1036	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	218			Thr-rich.		Q9Y229	In_Frame_Del	DEL	ENST00000378191.4	37	c.653_655delCCA	CCDS54.1																																																																																				0.635	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		7	101						7	101	---	---	---	---
NRD1	4898	broad.mit.edu	37	1	52290962	52290962	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:52290962delA	ENST00000354831.7	-	8	1426	c.1237delT	c.(1237-1239)tggfs	p.W413fs	NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs|NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	344					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ATCTTACCCCAAAAAAATTTT	0.318																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(1237-1239)ggfs		nardilysin (N-arginine dibasic convertase)							53.0	55.0	54.0					1																	52290962		2203	4300	6503	SO:0001589	frameshift_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52290962delA	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1237delT	1.37:g.52290962delA	ENSP00000346890:p.Trp413fs					NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs|NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs|NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000485608.1_5'UTR	p.W413fs	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			8	1426	-			344					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Frame_Shift_Del	DEL	ENST00000354831.7	37	c.1237delT	CCDS559.1																																																																																				0.318	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		9	1087						9	1087	---	---	---	---
ZCCHC11	23318	broad.mit.edu	37	1	52991653	52991653	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:52991653delT	ENST00000371544.3	-	2	562	c.300delA	c.(298-300)aaafs	p.K100fs	ZCCHC11_ENST00000355809.4_Frame_Shift_Del_p.K100fs|ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.K100fs|ZCCHC11_ENST00000371541.1_5'Flank	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	100					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AATTAGGAAATTTTTTTGCTT	0.388																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(298-300)aafs		zinc finger, CCHC domain containing 11							130.0	131.0	130.0					1																	52991653		2203	4300	6503	SO:0001589	frameshift_variant	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52991653delT	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.300delA	1.37:g.52991653delT	ENSP00000360599:p.Lys100fs					ZCCHC11_ENST00000355809.4_Frame_Shift_Del_p.K100fs|ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.K100fs	p.K100fs	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			2	562	-			100					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Frame_Shift_Del	DEL	ENST00000371544.3	37	c.300delA	CCDS30716.1																																																																																				0.388	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		7	921						7	921	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142699959	142699960	+	lincRNA	INS	-	-	A	rs199580941|rs200844453|rs200996945	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:142699959_142699960insA	ENST00000610091.1	-	0	3130																											tatatatatatatatatCCAAA	0.257																																						ENST00000369381.2																			0																																																			0							g.chr1:142699959_142699960insA																													1.37:g.142699960_142699960dupA														0	2077	-									RNA	INS	ENST00000610091.1	37																																																																																						0.257	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	8						4	8	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)cccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1540-1542)ccfs		B-cell CLL/lymphoma 9				35,42,4183		0,0,35,4,34,2057	60.0	70.0	66.0			3.6	1.0	1		67	38,97,8115		0,0,38,24,49,4014	no	codingComplex	BCL9	NM_004326.2		0,0,73,28,83,6071	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6364,1.8075,1.6946			147091501	73,139,12298	2203	4300	6503	SO:0001589	frameshift_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091501delC	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1540delC	1.37:g.147091501delC	ENSP00000234739:p.Pro517fs						p.P517fs	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	2280	+	all_hematologic(923;0.115)		517			Poly-Pro.|Pro-rich.		Q5T489	Frame_Shift_Del	DEL	ENST00000234739.3	37	c.1540delC	CCDS30833.1																																																																																				0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		11	481						11	481	---	---	---	---
LMX1A	4009	broad.mit.edu	37	1	165177332	165177334	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:165177332_165177334delTGC	ENST00000342310.3	-	7	1165_1167	c.783_785delGCA	c.(781-786)cagcaa>caa	p.261_262QQ>Q	RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000367893.4_In_Frame_Del_p.261_262QQ>Q|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_In_Frame_Del_p.261_262QQ>Q	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	261	Gln-rich.|Poly-Gln.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGCTGATCTTGCTGCTGCTGCT	0.567																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(781-786)caa>ca		LIM homeobox transcription factor 1, alpha																																				SO:0001651	inframe_deletion	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165177332_165177334delTGC	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.783_785delGCA	1.37:g.165177341_165177343delTGC	ENSP00000340226:p.Gln262del					LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del	p.QQ261del	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			7	1165_1167	-	all_hematologic(923;0.248)		261			Gln-rich.|Poly-Gln.		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	In_Frame_Del	DEL	ENST00000342310.3	37	c.783_785delGCA	CCDS1247.1																																																																																				0.567	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		7	122						7	122	---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247024493	247024494	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:247024493_247024494insA	ENST00000391829.2	-	29	3962_3963	c.3839_3840insT	c.(3838-3840)ttcfs	p.F1280fs	AHCTF1_ENST00000326225.3_Frame_Shift_Ins_p.F1289fs|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Frame_Shift_Ins_p.F1315fs			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1280	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GGCTGTTCAGGAAAAAAGATGT	0.401																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(3943-3945)tctfs		AT hook containing transcription factor 1																																				SO:0001589	frameshift_variant	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247024493_247024494insA		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3840dupT	1.37:g.247024499_247024499dupA	ENSP00000375705:p.Phe1280fs					AHCTF1_ENST00000326225.3_Frame_Shift_Ins_p.S1289fs|AHCTF1_ENST00000391829.2_Frame_Shift_Ins_p.S1280fs|AHCTF1_ENST00000470300.1_5'UTR	p.S1315fs			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		29	4080_4081	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1280			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Frame_Shift_Ins	INS	ENST00000391829.2	37	c.3944_3945insT																																																																																					0.401	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		48	366						48	366	---	---	---	---
IGKV1D-8	28904	broad.mit.edu	37	2	90259860	90259861	+	RNA	INS	-	-	C			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:90259860_90259861insC	ENST00000471857.1	+	0	236									immunoglobulin kappa variable 1D-8																		AATTTACTCAGCCAATGTGCTC	0.48																																						ENST00000471857.1																			0																																																			0							g.chr2:90259860_90259861insC	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90259862_90259862dupC														0	236	+									RNA	INS	ENST00000471857.1	37																																																																																						0.480	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		8	696						8	696	---	---	---	---
ZC3H8	84524	broad.mit.edu	37	2	112988508	112988512	+	Frame_Shift_Del	DEL	TTCTT	TTCTT	-	rs540736599	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:112988508_112988512delTTCTT	ENST00000409573.2	-	8	988_992	c.859_863delAAGAA	c.(859-864)aagaagfs	p.KK287fs	ZC3H8_ENST00000272570.5_Frame_Shift_Del_p.KK287fs|ZC3H8_ENST00000476902.1_5'UTR			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	287					apoptotic process (GO:0006915)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to antibiotic (GO:0046677)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|T cell homeostasis (GO:0043029)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						TTTACATGACTTCTTTTCAGTATCC	0.268														10	0.00199681	0.0	0.0029	5008	,	,		14672	0.0		0.008	False		,,,				2504	0.0					ENST00000409573.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						c.(859-864)gfs		zinc finger CCCH-type containing 8				0,2554		0,0,1277						1.2	1.0			38	34,5696		3,28,2834	no	frameshift	ZC3H8	NM_032494.2		3,28,4111	A1A1,A1R,RR		0.5934,0.0,0.4104				34,8250				SO:0001589	frameshift_variant	84524				apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:112988508_112988512delTTCTT	AF334161	CCDS46392.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000144161	ENSG00000144161		"""Zinc fingers, CCCH-type domain containing"""	30941	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 8"""	ZC3HDC8		12477932	Standard	NM_032494		Approved	Fliz1	uc021vmw.1	Q8N5P1	OTTHUMG00000153270	ENST00000409573.2:c.859_863delAAGAA	2.37:g.112988508_112988512delTTCTT	ENSP00000386488:p.Lys287fs					ZC3H8_ENST00000476902.1_5'UTR|ZC3H8_ENST00000272570.5_Frame_Shift_Del_p.KK287fs	p.KK287fs			Q8N5P1	ZC3H8_HUMAN			8	988_992	-			287					Q9BZ75	Frame_Shift_Del	DEL	ENST00000409573.2	37	c.859_863delAAGAA	CCDS46392.1																																																																																				0.268	ZC3H8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330521.3	NM_032494		2	4						2	4	---	---	---	---
NFKBIZ	64332	broad.mit.edu	37	3	101575980	101575980	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:101575980delC	ENST00000326172.5	+	10	2003	c.1888delC	c.(1888-1890)cgcfs	p.R630fs	NFKBIZ_ENST00000394054.2_Frame_Shift_Del_p.R530fs|NFKBIZ_ENST00000326151.5_Frame_Shift_Del_p.R508fs	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	630	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GGAACTCATTCGCCTCTTTTT	0.463																																						ENST00000326172.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1888-1890)gcfs		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta							118.0	134.0	128.0					3																	101575980		2203	4300	6503	SO:0001589	frameshift_variant	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101575980delC	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1888delC	3.37:g.101575980delC	ENSP00000325663:p.Arg630fs					NFKBIZ_ENST00000394054.2_Frame_Shift_Del_p.R530fs|NFKBIZ_ENST00000326151.5_Frame_Shift_Del_p.R508fs	p.R630fs	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN			10	2003	+			630			Interaction with NFKB1/p50 (By similarity).		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Frame_Shift_Del	DEL	ENST00000326172.5	37	c.1888delC	CCDS2946.1																																																																																				0.463	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		54	381						54	381	---	---	---	---
CFAP44	55779	broad.mit.edu	37	3	113098247	113098249	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:113098247_113098249delTCC	ENST00000295868.2	-	17	2364_2366	c.2202_2204delGGA	c.(2200-2205)gaggaa>gaa	p.734_735EE>E	WDR52_ENST00000393845.2_In_Frame_Del_p.734_735EE>E|WDR52_ENST00000475568.1_5'Flank	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TGGctcttcttcctcctcctcct	0.458																																						ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(2200-2205)gaa>ga		WD repeat domain 52																																				SO:0001651	inframe_deletion	55779							g.chr3:113098247_113098249delTCC																												ENST00000295868.2:c.2202_2204delGGA	3.37:g.113098256_113098258delTCC	ENSP00000295868:p.Glu737del					WDR52_ENST00000295868.2_In_Frame_Del_p.EE736del	p.EE736del	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			17	2268_2270	-			736			Glu-rich.			In_Frame_Del	DEL	ENST00000295868.2	37	c.2202_2204delGGA	CCDS2972.1																																																																																				0.458	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			7	414						7	414	---	---	---	---
WWTR1	25937	broad.mit.edu	37	3	149260194	149260196	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:149260194_149260196delCTG	ENST00000465804.1	-	5	953_955	c.697_699delCAG	c.(697-699)cagdel	p.Q233del	WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del|WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.(697-699)del		WW domain containing transcription regulator 1																																				SO:0001651	inframe_deletion	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149260194_149260196delCTG	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.697_699delCAG	3.37:g.149260203_149260205delCTG	ENSP00000419465:p.Gln233del					WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del	p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	953_955	-			233			Gln-rich.		D3DNH7|Q8N3P2|Q9Y3W6	In_Frame_Del	DEL	ENST00000465804.1	37	c.697_699delCAG	CCDS3144.1																																																																																				0.581	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		9	262						9	262	---	---	---	---
CXXC4	80319	broad.mit.edu	37	4	105412094	105412096	+	In_Frame_Del	DEL	GAG	GAG	-	rs146939312		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr4:105412094_105412096delGAG	ENST00000426831.1	-	1	371_373	c.357_359delCTC	c.(355-360)tcctcg>tcg	p.119_120SS>S	CXXC4_ENST00000394767.2_In_Frame_Del_p.288_289SS>S|CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA|AC093628.1_ENST00000606234.1_RNA			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	119	Poly-Ser.				negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)	p.S120A(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGAGGAGGACGAGGAGGAGGAGG	0.606																																						ENST00000394767.2																			1	Substitution - Missense(1)	p.S120A(1)	large_intestine(1)	kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(862-867)tcg>tc		CXXC finger protein 4				3,4263		0,3,2130						2.7	1.0			75	7,8245		0,7,4119	no	coding	CXXC4	NM_025212.1		0,10,6249	A1A1,A1R,RR		0.0848,0.0703,0.0799				10,12508				SO:0001651	inframe_deletion	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412094_105412096delGAG		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.357_359delCTC	4.37:g.105412103_105412105delGAG	ENSP00000412267:p.Ser123del					CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_In_Frame_Del_p.SS121del|AC093628.1_ENST00000606234.1_RNA	p.SS290del	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	2	1314_1316	-			121						In_Frame_Del	DEL	ENST00000426831.1	37	c.864_866delCTC																																																																																					0.606	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		7	318						7	318	---	---	---	---
FTH1P3	2498	broad.mit.edu	37	5	17354204	17354205	+	lincRNA	INS	-	-	T	rs529084938	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr5:17354204_17354205insT	ENST00000511821.1	+	0	101				FTH1P10_ENST00000401830.3_RNA																							ACTGATTCACATTTTTTTCCAA	0.465																																						ENST00000511821.1																			0																																																			0							g.chr5:17354204_17354205insT																													5.37:g.17354211_17354211dupT						FTH1P10_ENST00000401830.3_RNA								0	101	+									RNA	INS	ENST00000511821.1	37																																																																																						0.465	CTD-2139B15.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366261.1			91	587						91	587	---	---	---	---
NPR3	4883	broad.mit.edu	37	5	32789822	32789823	+	3'UTR	DEL	GT	GT	-	rs370388563		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr5:32789822_32789823delGT	ENST00000265074.8	+	0	5340_5341				AC026703.1_ENST00000326958.1_Frame_Shift_Del_p.C106fs	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CTGATTTTGGGTGTGTGTGTGT	0.421																																						ENST00000326958.1																			0											c.(313-318)gggtfs																																						SO:0001624	3_prime_UTR_variant	0							g.chr5:32789822_32789823delGT		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3372GT>-	5.37:g.32789832_32789833delGT						NPR3_ENST00000265074.8_3'UTR	p.GC105fs							1	878_879	+								A2RRD1|B4DT84|E7EPG9	Frame_Shift_Del	DEL	ENST00000265074.8	37	c.315_316delGT	CCDS56357.1																																																																																				0.421	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		8	467						8	467	---	---	---	---
ZNF165	7718	broad.mit.edu	37	6	28056524	28056525	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:28056524_28056525delAG	ENST00000377325.1	+	4	1290_1291	c.734_735delAG	c.(733-735)cagfs	p.Q245fs	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	245					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGAGTCTCAGAGACTCTCGT	0.446																																						ENST00000377325.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(733-735)cfs		zinc finger protein 165																																				SO:0001589	frameshift_variant	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28056524_28056525delAG	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.734_735delAG	6.37:g.28056526_28056527delAG	ENSP00000366542:p.Gln245fs						p.Q245fs	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN			4	1290_1291	+			245						Frame_Shift_Del	DEL	ENST00000377325.1	37	c.734_735delAG	CCDS4643.1																																																																																				0.446	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		15	318						15	318	---	---	---	---
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gaafs	p.E169fs	SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289																																						ENST00000370455.3																			1	Deletion - Frameshift(1)	p.K145fs*48(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(505-507)gafs		small ArfGAP 1							23.0	28.0	26.0					6																	71508370		2184	4254	6438	SO:0001589	frameshift_variant	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71508370delA	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.506delA	6.37:g.71508370delA	ENSP00000359484:p.Glu169fs					SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs	p.E169fs	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN			6	754	+			169					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Frame_Shift_Del	DEL	ENST00000370455.3	37	c.506delA	CCDS43478.1																																																																																				0.289	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		7	79						7	79	---	---	---	---
ARHGAP18	93663	broad.mit.edu	37	6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aacfs	p.N163fs		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)		GGTACTGTTTGTTTTTTTTCCT	0.421																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(487-489)aaafs		Rho GTPase activating protein 18																																				SO:0001589	frameshift_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959602_129959603insT	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.489dupA	6.37:g.129959610_129959610dupT	ENSP00000357131:p.Asn163fs						p.K163fs	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)	3	576_577	-			163						Frame_Shift_Ins	INS	ENST00000368149.2	37	c.488_489insA	CCDS34535.1																																																																																				0.421	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		7	688						7	688	---	---	---	---
TRGJP	6970	broad.mit.edu	37	7	38313227	38313227	+	RNA	DEL	T	T	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr7:38313227delT	ENST00000390338.2	-	0	21				TRGJP1_ENST00000390339.1_RNA					T cell receptor gamma joining P																		AATACCTTGATTTTTTTGCCC	0.388																																						ENST00000390338.2																			0																				118.0	125.0	123.0					7																	38313227		1803	4069	5872			0							g.chr7:38313227delT	M12950		7p14	2012-02-07			ENSG00000211691	ENSG00000211691		"""T cell receptors / TRG locus"""	12279	other	T cell receptor gene	"""T-cell receptor, gamma, joining segment JP"""			TCRGJP		2938743	Standard	NG_001336		Approved	JP			OTTHUMG00000155220		7.37:g.38313227delT														0	21	-									RNA	DEL	ENST00000390338.2	37																																																																																						0.388	TRGJP-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000338826.1	NG_001336		7	653						7	653	---	---	---	---
CCT6P1	643253	broad.mit.edu	37	7	65226569	65226569	+	RNA	DEL	T	T	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr7:65226569delT	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		gcccggccCCttttttttttt	0.413																																						ENST00000442266.1																			0																																																			0							g.chr7:65226569delT	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.65226569delT														0	1167	+									RNA	DEL	ENST00000442266.1	37																																																																																						0.413	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		9	34						9	34	---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6302639	6302639	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr8:6302639delA	ENST00000344683.5	+	8	1472	c.1396delA	c.(1396-1398)aaafs	p.K467fs	MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K467fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K419fs	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	467					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)	p.T468fs*32(2)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CTGCGTTGGCAAAAAAACCAG	0.443																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	2	Deletion - Frameshift(2)	p.T468fs*32(2)	large_intestine(1)|lung(1)	central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(1396-1398)aafs		microcephalin 1							80.0	78.0	79.0					8																	6302639		1856	4107	5963	SO:0001589	frameshift_variant	79648					microtubule organizing center		g.chr8:6302639delA	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1396delA	8.37:g.6302639delA	ENSP00000342924:p.Lys467fs					MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K467fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K419fs	p.K467fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	8	1472	+		Hepatocellular(245;0.0663)	467					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Frame_Shift_Del	DEL	ENST00000344683.5	37	c.1396delA	CCDS43689.1																																																																																				0.443	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		8	484						8	484	---	---	---	---
PTP4A3	11156	broad.mit.edu	37	8	142444235	142444238	+	IGR	DEL	GGGT	GGGT	-	rs371671775		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr8:142444235_142444238delGGGT	ENST00000521578.1	+	0	1717				CTD-3064M3.7_ENST00000606664.1_RNA|MROH5_ENST00000430863.1_RNA			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3						peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GGTGTTGGGGGGGTGGGGGGTGGG	0.637																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5																																				SO:0001628	intergenic_variant	389690							g.chr8:142444235_142444238delGGGT	AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365			8.37:g.142444235_142444238delGGGT								NM_207414.2	NP_997297.2					0	3937	-								Q8IVN5|Q99849|Q9BTW5	RNA	DEL	ENST00000521578.1	37		CCDS6383.1																																																																																				0.637	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378977.1	NM_032611		3	4						3	4	---	---	---	---
LINC01410	103352539	broad.mit.edu	37	9	66464060	66464061	+	lincRNA	DEL	AC	AC	-	rs370823519		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:66464060_66464061delAC	ENST00000424345.1	+	0	224																											GTTTTTCCTGACACCTCTCCTT	0.49																																						ENST00000424345.1																			0																																																			0							g.chr9:66464060_66464061delAC																													9.37:g.66464062_66464063delAC														0	224	+									RNA	DEL	ENST00000424345.1	37																																																																																						0.490	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			2	4						2	4	---	---	---	---
TPRN	286262	broad.mit.edu	37	9	140087025	140087027	+	In_Frame_Del	DEL	TCC	TCC	-	rs376810326		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:140087025_140087027delTCC	ENST00000409012.4	-	2	1928_1930	c.1842_1844delGGA	c.(1840-1845)gaggaa>gaa	p.614_615EE>E	TPRN_ENST00000541945.1_5'Flank|TPRN_ENST00000321773.2_In_Frame_Del_p.553_554EE>E	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	614	Glu-rich.				sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)		p.E315delE(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						ctcttcctcttcctcctcctcct	0.596																																						ENST00000409012.4																			1	Deletion - In frame(1)	p.E315delE(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						c.(1840-1845)gaa>ga		taperin																																				SO:0001651	inframe_deletion	286262				sensory perception of sound	stereocilium		g.chr9:140087025_140087027delTCC	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"""chromosome 9 open reading frame 75"", ""deafness, autosomal recessive 79"""	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1842_1844delGGA	9.37:g.140087034_140087036delTCC	ENSP00000387100:p.Glu621del					TPRN_ENST00000321773.2_In_Frame_Del_p.EE559del	p.EE620del	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN			2	1928_1930	-			620			Glu-rich.		B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	In_Frame_Del	DEL	ENST00000409012.4	37	c.1842_1844delGGA	CCDS56594.1																																																																																				0.596	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		8	85						8	85	---	---	---	---
RTKN2	219790	broad.mit.edu	37	10	63958149	63958149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:63958149delT	ENST00000373789.3	-	12	1444	c.1348delA	c.(1348-1350)attfs	p.I450fs	RTKN2_ENST00000315289.2_Frame_Shift_Del_p.I252fs|RTKN2_ENST00000395265.1_Frame_Shift_Del_p.I471fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	450					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.I450fs*67(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTCTCTTCAATTTTTTTTTGT	0.333																																						ENST00000373789.3																			1	Deletion - Frameshift(1)	p.I450fs*67(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1348-1350)ttfs		rhotekin 2							60.0	64.0	63.0					10																	63958149		2202	4299	6501	SO:0001589	frameshift_variant	219790				signal transduction	intracellular		g.chr10:63958149delT	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1348delA	10.37:g.63958149delT	ENSP00000362894:p.Ile450fs					RTKN2_ENST00000315289.2_Frame_Shift_Del_p.I252fs|RTKN2_ENST00000395265.1_Frame_Shift_Del_p.I471fs	p.I450fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN			12	1444	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		450					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Frame_Shift_Del	DEL	ENST00000373789.3	37	c.1348delA	CCDS7263.1																																																																																				0.333	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		7	403						7	403	---	---	---	---
AGAP11	119385	broad.mit.edu	37	10	88754812	88754813	+	RNA	INS	-	-	ATA	rs35989321|rs67319117|rs398014362|rs372109601	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:88754812_88754813insATA	ENST00000444431.1	+	0	335				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										AATTGATGATGataataatagt	0.292														2027	0.404752	0.6021	0.5058	5008	,	,		16108	0.2381		0.329	False		,,,				2504	0.316					ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11																																						119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88754812_88754813insATA			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88754819_88754821dupATA						RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA				Q8TF27	AGA11_HUMAN			0	335	+								B9EIP7|D3DWE4	RNA	INS	ENST00000444431.1	37																																																																																						0.292	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		6	7						6	7	---	---	---	---
LZTS2	84445	broad.mit.edu	37	10	102763415	102763417	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:102763415_102763417delCCT	ENST00000370220.1	+	2	3623_3625	c.560_562delCCT	c.(559-564)gcctcc>gcc	p.S197del	LZTS2_ENST00000370223.3_In_Frame_Del_p.S197del					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGGGGCCCTGcctcctcctcctc	0.65																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(559-564)gcc>g		leucine zipper, putative tumor suppressor 2				12,4252		3,6,2123						5.3	1.0			94	17,8235		4,9,4113	no	coding	LZTS2	NM_032429.2		7,15,6236	A1A1,A1R,RR		0.206,0.2814,0.2317				29,12487				SO:0001651	inframe_deletion	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102763415_102763417delCCT	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.560_562delCCT	10.37:g.102763424_102763426delCCT	ENSP00000359240:p.Ser197del					LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del	p.AS187del			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	2	3623_3625	+			187			Required for centrosomal localization (By similarity).			In_Frame_Del	DEL	ENST00000370220.1	37	c.560_562delCCT	CCDS7507.1																																																																																				0.650	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		9	683						9	683	---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3720389	3720389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:3720389delT	ENST00000324932.7	-	25	4352	c.3932delA	c.(3931-3933)aacfs	p.N1311fs	NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000488828.1_5'Flank	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1328					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CACAGGGCTGTTTTTTTGGGT	0.512			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3931-3933)acfs		nucleoporin 98kDa							176.0	183.0	180.0					11																	3720389		2201	4298	6499	SO:0001589	frameshift_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3720389delT	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.3932delA	11.37:g.3720389delT	ENSP00000316032:p.Asn1311fs					NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs	p.N1311fs	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	25	4352	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1328					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Frame_Shift_Del	DEL	ENST00000324932.7	37	c.3932delA	CCDS7746.1																																																																																				0.512	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		9	1122						9	1122	---	---	---	---
PHF21A	51317	broad.mit.edu	37	11	46001356	46001358	+	In_Frame_Del	DEL	GTG	GTG	-	rs372037631		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:46001356_46001358delGTG	ENST00000418153.2	-	6	512_514	c.313_315delCAC	c.(313-315)cacdel	p.H105del	PHF21A_ENST00000323180.6_In_Frame_Del_p.H105del|PHF21A_ENST00000257821.4_In_Frame_Del_p.H105del			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	105	Gln-rich.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						actgctgggcgtggtggtggtgg	0.488																																						ENST00000257821.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.(313-315)del		PHD finger protein 21A																																				SO:0001651	inframe_deletion	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:46001356_46001358delGTG	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.313_315delCAC	11.37:g.46001365_46001367delGTG	ENSP00000398824:p.His105del					PHF21A_ENST00000418153.2_In_Frame_Del_p.H105del|PHF21A_ENST00000323180.6_In_Frame_Del_p.H105del	p.H105del	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN			6	936_938	-			105			Gln-rich.		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	In_Frame_Del	DEL	ENST00000418153.2	37	c.313_315delCAC	CCDS44578.1																																																																																				0.488	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		7	342						7	342	---	---	---	---
ATL3	25923	broad.mit.edu	37	11	63420049	63420050	+	Splice_Site	INS	-	-	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:63420049_63420050insA	ENST00000398868.3	-	4	682		c.e4-2		RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000332645.4_Splice_Site|ATL3_ENST00000538786.1_Splice_Site	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3						endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AACTGCAACCTAAAAAAAAGGA	0.371																																						ENST00000398868.3																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.e4-2		atlastin GTPase 3																																				SO:0001630	splice_region_variant	25923				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr11:63420049_63420050insA		CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.406-2->T	11.37:g.63420057_63420057dupA						ATL3_ENST00000332645.4_Splice_Site|RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000538786.1_Splice_Site		NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN			4	682	-								Q8N7W5|Q9H8Q5|Q9UFL1	Splice_Site	INS	ENST00000398868.3	37		CCDS41663.1																																																																																				0.371	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	NM_015459	Intron	7	284						7	284	---	---	---	---
RTN3	10313	broad.mit.edu	37	11	63525655	63525656	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:63525655_63525656insA	ENST00000377819.5	+	9	3235_3236	c.3081_3082insA	c.(3082-3084)aaafs	p.K1028fs	RTN3_ENST00000354497.4_Frame_Shift_Ins_p.PK146fs|RTN3_ENST00000540798.1_Frame_Shift_Ins_p.K916fs|RTN3_ENST00000537981.1_Frame_Shift_Ins_p.K232fs|RTN3_ENST00000356000.3_Frame_Shift_Ins_p.K251fs|C11orf95_ENST00000433688.1_lincRNA|RTN3_ENST00000339997.4_Frame_Shift_Ins_p.K1009fs|RTN3_ENST00000341307.2_Frame_Shift_Ins_p.Q212fs	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	1028	Interaction with FADD.|Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CTGGAATCGCCAAAAAAAAGGC	0.337																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(3079-3084)gcaaaafs		reticulon 3																																				SO:0001589	frameshift_variant	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63525655_63525656insA	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.3089dupA	11.37:g.63525663_63525663dupA	ENSP00000367050:p.Lys1028fs					RTN3_ENST00000540798.1_Frame_Shift_Ins_p.AK915fs|RTN3_ENST00000341307.2_Frame_Shift_Ins_p.K212fs|RTN3_ENST00000339997.4_Frame_Shift_Ins_p.AK1008fs|RTN3_ENST00000354497.4_Frame_Shift_Ins_p.Q146fs|RTN3_ENST00000537981.1_Frame_Shift_Ins_p.AK231fs|RTN3_ENST00000356000.3_Frame_Shift_Ins_p.AK250fs	p.AK1027fs	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			9	3235_3236	+			1027			Interaction with FADD.|Reticulon.		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Frame_Shift_Ins	INS	ENST00000377819.5	37	c.3081_3082insA	CCDS58141.1																																																																																				0.337	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		8	322						8	322	---	---	---	---
SIK2	23235	broad.mit.edu	37	11	111594482	111594482	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:111594482delT	ENST00000304987.3	+	15	2583	c.2410delT	c.(2410-2412)tccfs	p.S804fs		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	804					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GCCCCTGCCCTCCACTTCCGG	0.672																																						ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(2410-2412)ccfs		salt-inducible kinase 2							127.0	137.0	134.0					11																	111594482		2201	4297	6498	SO:0001589	frameshift_variant	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111594482delT	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.2410delT	11.37:g.111594482delT	ENSP00000305976:p.Ser804fs						p.S804fs	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			15	2583	+			804					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Frame_Shift_Del	DEL	ENST00000304987.3	37	c.2410delT	CCDS8347.1																																																																																				0.672	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		7	918						7	918	---	---	---	---
PRDM10	56980	broad.mit.edu	37	11	129772249	129772251	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:129772249_129772251delTGG	ENST00000360871.3	-	21	3659_3661	c.3428_3430delCCA	c.(3427-3432)accaac>aac	p.T1143del	PRDM10_ENST00000528746.1_In_Frame_Del_p.T1104del|PRDM10_ENST00000526082.1_In_Frame_Del_p.T1061del|PRDM10_ENST00000423662.2_In_Frame_Del_p.T1048del|PRDM10_ENST00000304538.6_In_Frame_Del_p.T1010del|PRDM10_ENST00000358825.5_In_Frame_Del_p.T1147del	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CCGTTCCCGTTGGTGGTGGTGGT	0.547																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(3439-3444)aac>a		PR domain containing 10																																				SO:0001651	inframe_deletion	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129772249_129772251delTGG	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.3428_3430delCCA	11.37:g.129772258_129772260delTGG	ENSP00000354118:p.Thr1143del					PRDM10_ENST00000304538.6_In_Frame_Del_p.TN1010del|PRDM10_ENST00000526082.1_In_Frame_Del_p.TN1061del|PRDM10_ENST00000423662.2_In_Frame_Del_p.TN1048del|PRDM10_ENST00000360871.3_In_Frame_Del_p.TN1143del|PRDM10_ENST00000528746.1_In_Frame_Del_p.TN1104del	p.TN1147del	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	22	3671_3673	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	1134					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	In_Frame_Del	DEL	ENST00000360871.3	37	c.3440_3442delCCA	CCDS8484.1																																																																																				0.547	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		7	672						7	672	---	---	---	---
LINC00477	144360	broad.mit.edu	37	12	24736734	24736735	+	lincRNA	INS	-	-	A			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr12:24736734_24736735insA	ENST00000483544.1	-	0	367_368					NR_029451.2		Q96M19	CL067_HUMAN	long intergenic non-protein coding RNA 477							integral component of membrane (GO:0016021)											AGGCGAAGAAGAAAAAAAAATC	0.569																																						ENST00000483544.1																			0																	11,4253		0,11,2121						0.8	0.1			47	8,8246		0,8,4119	no	intergenic				0,19,6240	A1A1,A1R,RR		0.0969,0.258,0.1518				19,12499						0							g.chr12:24736734_24736735insA	AK057456		12p12.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000197503	ENSG00000197503		"""Long non-coding RNAs"""	26557	non-coding RNA	RNA, long non-coding	"""family with sequence similarity 191, member B"""		"""chromosome 12 open reading frame 67"""	C12orf67		14702039	Standard	NR_029451		Approved	FLJ32894, FAM191B	uc001rgb.1	Q96M19	OTTHUMG00000159485		12.37:g.24736743_24736743dupA								NR_029451.2						0	367_368	-									RNA	INS	ENST00000483544.1	37																																																																																						0.569	LINC00477-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000355725.1	NM_144667		7	275						7	275	---	---	---	---
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggtfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433																																						ENST00000266673.5																			0				large_intestine(1)|lung(8)	9						c.(991-993)ggfs		transmembrane protein 19							199.0	184.0	189.0					12																	72094757		2203	4300	6503	SO:0001589	frameshift_variant	55266					integral to membrane		g.chr12:72094757delT	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.993delT	12.37:g.72094757delT	ENSP00000266673:p.Gly331fs						p.G331fs	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	6	1587	+		Breast(359;0.0889)	331					B2RDL2|Q53FY3|Q9NV41	Frame_Shift_Del	DEL	ENST00000266673.5	37	c.993delT	CCDS9002.1																																																																																				0.433	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		7	1042						7	1042	---	---	---	---
DDX55	57696	broad.mit.edu	37	12	124103201	124103202	+	Intron	DEL	TG	TG	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr12:124103201_124103202delTG	ENST00000238146.4	+	12	1214				SNORA9_ENST00000384170.1_RNA|DDX55_ENST00000538744.1_Intron|DDX55_ENST00000421670.3_De_novo_Start_InFrame|DDX55_ENST00000541259.1_Intron	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GAATGTGGTATGTGTGTGTGTG	0.52											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000421670.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14								DEAD (Asp-Glu-Ala-Asp) box polypeptide 55																																				SO:0001627	intron_variant	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124103201_124103202delTG	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1165-14TG>-	12.37:g.124103211_124103212delTG			OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron|DDX55_ENST00000238146.4_Intron				Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	0	639_640	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)							Q658L6|Q8IYH0|Q9HCH7	Translation_Start_Site	DEL	ENST00000238146.4	37		CCDS9251.1																																																																																				0.520	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			7	192						7	192	---	---	---	---
GPALPP1	55425	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr13:45580365_45580367delGAT	ENST00000379151.4	+	3	353_355	c.250_252delGAT	c.(250-252)gatdel	p.D88del	RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000361121.2_In_Frame_Del_p.D88del|GPALPP1_ENST00000357537.3_De_novo_Start_InFrame	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	88	Poly-Asp.																Ggatgatgacgatgatgatgatg	0.335																																						ENST00000361121.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12						c.(250-252)del						311,3953		154,3,1975						-7.1	0.0			182	654,7600		325,4,3798	no	coding	KIAA1704	NM_018559.2		479,7,5773	A1A1,A1R,RR		7.9234,7.2936,7.7089				965,11553				SO:0001651	inframe_deletion	0							g.chr13:45580365_45580367delGAT	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.250_252delGAT	13.37:g.45580374_45580376delGAT	ENSP00000368447:p.Asp88del					KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|RP11-321C24.1_ENST00000437748.2_lincRNA	p.D88del			Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	3	285_287	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	88			Poly-Asp.		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	In_Frame_Del	DEL	ENST00000379151.4	37	c.250_252delGAT	CCDS9394.1																																																																																				0.335	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559		7	880						7	880	---	---	---	---
ESD	2098	broad.mit.edu	37	13	47354112	47354112	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr13:47354112delT	ENST00000378720.3	-	8	740	c.558delA	c.(556-558)aaafs	p.K186fs	ESD_ENST00000495654.1_5'UTR|ESD_ENST00000378697.1_Frame_Shift_Del_p.K157fs	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	186					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CACTAAAGGCTTTTTTGCCCC	0.353																																						ENST00000378720.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(556-558)aafs		esterase D	Glutathione(DB00143)						102.0	103.0	102.0					13																	47354112		2203	4300	6503	SO:0001589	frameshift_variant	2098					cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity	g.chr13:47354112delT	M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"""S-formylglutathione hydrolase"""	133280	"""esterase D/formylglutathione hydrolase"""				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.558delA	13.37:g.47354112delT	ENSP00000367992:p.Lys186fs					ESD_ENST00000378697.1_Frame_Shift_Del_p.K157fs|ESD_ENST00000495654.1_5'UTR	p.K186fs	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN		GBM - Glioblastoma multiforme(144;2.66e-05)	8	740	-		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	186					Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Frame_Shift_Del	DEL	ENST00000378720.3	37	c.558delA	CCDS9404.1																																																																																				0.353	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1			7	805						7	805	---	---	---	---
IRF9	10379	broad.mit.edu	37	14	24633132	24633134	+	In_Frame_Del	DEL	AGC	AGC	-	rs199740615		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	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			7	258						7	258	---	---	---	---
LINC01588	283551	broad.mit.edu	37	14	50517576	50517577	+	lincRNA	INS	-	-	AA			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr14:50517576_50517577insAA	ENST00000556019.2	-	0	186				RP11-58E21.5_ENST00000603228.1_lincRNA																							GCCCTGGAGTCAGACTGCTACC	0.515																																						ENST00000556019.2																			0																																																			0							g.chr14:50517576_50517577insAA																													14.37:g.50517576_50517577insAA														0	186	-									RNA	INS	ENST00000556019.2	37																																																																																						0.515	RP11-58E21.7-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000410876.2			7	203						7	203	---	---	---	---
LOC100128233	100128233	broad.mit.edu	37	14	65685934	65685934	+	lincRNA	DEL	T	T	-	rs202191969	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr14:65685934delT	ENST00000531609.1	-	0	129					NR_103769.1																						TCTGGCTCTAttttttttttt	0.418													|||unknown(HR)	443	0.0884585	0.1082	0.0994	5008	,	,		15330	0.0258		0.1004	False		,,,				2504	0.1063					ENST00000531609.1																			0																																																			0							g.chr14:65685934delT																													14.37:g.65685934delT								NR_103769.1						0	129	-									RNA	DEL	ENST00000531609.1	37																																																																																						0.418	CTD-2509G16.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000388095.1			3	4						3	4	---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30531249	30531251	+	In_Frame_Del	DEL	GCT	GCT	-	rs374222520		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr16:30531249_30531251delGCT	ENST00000356798.6	+	30	3480_3482	c.3300_3302delGCT	c.(3298-3303)gggctg>ggg	p.L1106del	ITGAL_ENST00000433423.2_In_Frame_Del_p.L340del|ITGAL_ENST00000358164.5_In_Frame_Del_p.L1022del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1106					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GCATCGGGGGGCTGCTGCTGCTG	0.601																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(3298-3303)ggg>gg		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)																																			SO:0001651	inframe_deletion	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30531249_30531251delGCT		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.3300_3302delGCT	16.37:g.30531258_30531260delGCT	ENSP00000349252:p.Leu1106del					ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del|ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del	p.GL1100del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			30	3480_3482	+			1100					O43746|Q45H73|Q96HB1|Q9UBC8	In_Frame_Del	DEL	ENST00000356798.6	37	c.3300_3302delGCT	CCDS32433.1																																																																																				0.601	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			8	908						8	908	---	---	---	---
LIG3	3980	broad.mit.edu	37	17	33332963	33332963	+	IGR	DEL	T	T	-	rs34477990|rs397798422	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:33332963delT	ENST00000378526.4	+	0	3721				RP5-837J1.2_ENST00000578488.1_RNA|RFFL_ENST00000580569.1_5'Flank	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent						base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TATCACAGTATTTTTTTTTTT	0.323								Other BER factors					|||unknown(HR)	1475	0.294529	0.6399	0.1282	5008	,	,		17972	0.1875		0.1322	False		,,,				2504	0.2229					ENST00000578488.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:33332963delT		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519		17.37:g.33332963delT														0	857	+								Q16714|Q6NVK3	RNA	DEL	ENST00000378526.4	37		CCDS11284.2																																																																																				0.323	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		3	3						3	3	---	---	---	---
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-	rs148510452|rs556262610	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	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_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_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		9	162						9	162	---	---	---	---
PLEKHM1P	440456	broad.mit.edu	37	17	62788247	62788248	+	RNA	DEL	TG	TG	-	rs374126387		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:62788247_62788248delTG	ENST00000582986.1	-	0	2143					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										GCACTGCCCTtgtgtgtgtgtg	0.505																																						ENST00000582986.1																			0																																																			0							g.chr17:62788247_62788248delTG			17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62788257_62788258delTG								NR_024386.1						0	2143	-									RNA	DEL	ENST00000582986.1	37																																																																																						0.505	PLEKHM1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445598.1	NR_024386		2	4						2	4	---	---	---	---
CTC-439O9.3	0	broad.mit.edu	37	19	31670636	31670638	+	lincRNA	DEL	GGT	GGT	-	rs139984397|rs61269486	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:31670636_31670638delGGT	ENST00000589511.1	+	0	223																											gatgatggtaggtggtggtggtg	0.502														2320	0.463259	0.5212	0.3732	5008	,	,		24521	0.3244		0.4891	False		,,,				2504	0.5654					ENST00000589511.1																			0																																																			0							g.chr19:31670636_31670638delGGT																													19.37:g.31670645_31670647delGGT														0	223	+									RNA	DEL	ENST00000589511.1	37																																																																																						0.502	CTC-439O9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000460489.1			3	4						3	4	---	---	---	---
CHGB	1114	broad.mit.edu	37	20	5903283	5903285	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr20:5903283_5903285delGAG	ENST00000378961.4	+	4	697_699	c.493_495delGAG	c.(493-495)gagdel	p.E169del		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	169	Poly-Glu.					extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGAGAGGATGAGGAGGAGGAGG	0.532																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(493-495)del		chromogranin B (secretogranin 1)																																				SO:0001651	inframe_deletion	1114					extracellular region	hormone activity	g.chr20:5903283_5903285delGAG		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.493_495delGAG	20.37:g.5903292_5903294delGAG	ENSP00000368244:p.Glu169del						p.E169del	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			4	697_699	+			169			Poly-Glu.		A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	In_Frame_Del	DEL	ENST00000378961.4	37	c.493_495delGAG	CCDS13092.1																																																																																				0.532	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		7	213						7	213	---	---	---	---
RAI2	10742	broad.mit.edu	37	X	17818550	17818550	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chrX:17818550delA	ENST00000545871.1	-	3	2041	c.1581delT	c.(1579-1581)tttfs	p.F527fs	RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs|RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	527					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ACTTTCTTGGAAAAAAGGTGG	0.333																																						ENST00000545871.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22						c.(1579-1581)ttfs		retinoic acid induced 2							182.0	201.0	195.0					X																	17818550		2203	4300	6503	SO:0001589	frameshift_variant	10742				embryo development			g.chrX:17818550delA	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1581delT	X.37:g.17818550delA	ENSP00000444210:p.Phe527fs					RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs|RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs	p.F527fs	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN			3	2041	-	Hepatocellular(33;0.183)		527					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Frame_Shift_Del	DEL	ENST00000545871.1	37	c.1581delT	CCDS14183.1																																																																																				0.333	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		9	1826						9	1826	---	---	---	---
ERCC6L	54821	broad.mit.edu	37	X	71427535	71427536	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chrX:71427535_71427536insG	ENST00000334463.3	-	2	1216_1217	c.1081_1082insC	c.(1081-1083)cttfs	p.L361fs	ERCC6L_ENST00000373657.1_Frame_Shift_Ins_p.L238fs|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	361					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TTTCCTGGAAAGGGAAGGCATT	0.366																																						ENST00000373657.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(712-714)ttcfs		excision repair cross-complementing rodent repair deficiency, complementation group 6-like																																				SO:0001589	frameshift_variant	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71427535_71427536insG	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.1082dupC	X.37:g.71427538_71427538dupG	ENSP00000334675:p.Leu361fs					ERCC6L_ENST00000334463.3_Frame_Shift_Ins_p.F361fs|PIN4_ENST00000423432.2_Intron	p.F238fs			Q2NKX8	ERC6L_HUMAN			3	1314_1315	-	Renal(35;0.156)		361			Helicase ATP-binding.		Q8NCI1|Q96H93|Q9NXQ8	Frame_Shift_Ins	INS	ENST00000334463.3	37	c.712_713insC	CCDS35329.1																																																																																				0.366	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		150	561						150	561	---	---	---	---
