#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
GMPPA	29926	broad.mit.edu	37	2	220371072	220371072	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:220371072G>T	ENST00000358215.3	+	12	1459	c.1090G>T	c.(1090-1092)Gat>Tat	p.D364Y	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.D417Y|GMPPA_ENST00000341142.3_Missense_Mutation_p.D364Y|GMPPA_ENST00000373908.1_Missense_Mutation_p.D364Y|GMPPA_ENST00000313597.5_Missense_Mutation_p.D364Y	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	364					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TAACCCCAACGATCCCCGAGC	0.657																																						ENST00000358215.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(1090-1092)Gat>Tat		GDP-mannose pyrophosphorylase A							56.0	58.0	58.0					2																	220371072		2203	4300	6503	SO:0001583	missense	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220371072G>T	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.1090G>T	2.37:g.220371072G>T	ENSP00000350949:p.Asp364Tyr					GMPPA_ENST00000373917.3_Missense_Mutation_p.D417Y|GMPPA_ENST00000373908.1_Missense_Mutation_p.D364Y|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Missense_Mutation_p.D364Y|GMPPA_ENST00000313597.5_Missense_Mutation_p.D364Y	p.D364Y	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	12	1459	+		Renal(207;0.0183)	364					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	c.1090G>T	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317697	0.40996	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000341142	T;T;T;T;T	0.19394	2.19;2.15;2.19;2.19;2.19	4.5	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	L	0.56769	1.78	0.58432	D	0.999999	B;B	0.30104	0.111;0.268	B;B	0.29716	0.068;0.106	T	0.04781	-1.0927	10	0.37606	T	0.19	-12.2674	11.5358	0.50636	0.0889:0.0:0.9111:0.0	.	417;364	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	Y	364;417;364;364;364	ENSP00000315925:D364Y;ENSP00000363027:D417Y;ENSP00000350949:D364Y;ENSP00000363016:D364Y;ENSP00000340760:D364Y	ENSP00000315925:D364Y	D	+	1	0	GMPPA	220079316	1.000000	0.71417	0.998000	0.56505	0.362000	0.29581	5.649000	0.67936	2.039000	0.60335	0.557000	0.71058	GAT		0.657	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		89	376	1	0	6.71967e-41	1	7.2402e-41	89	376				
COL12A1	1303	broad.mit.edu	37	6	75840656	75840656	+	Silent	SNP	C	C	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:75840656C>T	ENST00000322507.8	-	36	6288	c.5979G>A	c.(5977-5979)cgG>cgA	p.R1993R	COL12A1_ENST00000416123.2_Silent_p.R1993R|COL12A1_ENST00000345356.6_Silent_p.R829R|COL12A1_ENST00000483888.2_Silent_p.R1993R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1993	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.R1993R(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCGGAATCAGCCGCTCCAGAT	0.537																																						ENST00000322507.8																			1	Substitution - coding silent(1)	p.R1993R(1)	endometrium(1)	breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(5977-5979)cgG>cgA		collagen, type XII, alpha 1							99.0	101.0	100.0					6																	75840656		2077	4227	6304	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75840656C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5979G>A	6.37:g.75840656C>T						COL12A1_ENST00000483888.2_Silent_p.R1993R|COL12A1_ENST00000416123.2_Silent_p.R1993R|COL12A1_ENST00000345356.6_Silent_p.R829R	p.R1993R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			36	6288	-			1993			Fibronectin type-III 15.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.5979G>A	CCDS43482.1																																																																																				0.537	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		5	387	0	0	0	1	0	5	387				
FAM111B	374393	broad.mit.edu	37	11	58892674	58892674	+	Silent	SNP	G	G	A	rs371989300		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr11:58892674G>A	ENST00000343597.3	+	4	1295	c.1104G>A	c.(1102-1104)ccG>ccA	p.P368P	FAM111B_ENST00000411426.1_Silent_p.P338P|FAM111B_ENST00000529618.1_Silent_p.P338P	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	368							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GACGGAGGCCGCATCTGGGTA	0.383																																						ENST00000343597.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(1102-1104)ccG>ccA		family with sequence similarity 111, member B		G	,,	1,4401	2.1+/-5.4	0,1,2200	68.0	75.0	73.0		1014,1014,1104	-0.8	0.0	11		73	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	FAM111B	NM_001142703.1,NM_001142704.1,NM_198947.3	,,	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,,	338/705,338/705,368/735	58892674	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	374393						catalytic activity	g.chr11:58892674G>A	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1104G>A	11.37:g.58892674G>A						FAM111B_ENST00000411426.1_Silent_p.P338P|FAM111B_ENST00000529618.1_Silent_p.P338P	p.P368P	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN			4	1295	+			368					B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	c.1104G>A	CCDS7972.1																																																																																				0.383	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		8	746	0	0	0	1	0	8	746				
RPL9	6133	broad.mit.edu	37	4	39462521	39462521	+	5'Flank	SNP	C	C	G			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:39462521C>G	ENST00000449470.2	-	0	0				RPL9_ENST00000295955.9_5'Flank|LIAS_ENST00000261434.3_Missense_Mutation_p.L53V|LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000340169.2_Missense_Mutation_p.L53V|LIAS_ENST00000381846.1_Missense_Mutation_p.L53V|LIAS_ENST00000513731.1_Missense_Mutation_p.L53V	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						ATCTGGTGATCTTGCAGACAG	0.403																																						ENST00000261434.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						c.(157-159)Ctt>Gtt		lipoic acid synthetase	Lipoic Acid(DB00166)						86.0	95.0	92.0					4																	39462521		2203	4300	6503	SO:0001631	upstream_gene_variant	11019				inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	g.chr4:39462521C>G	D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"""L ribosomal proteins"""	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367		4.37:g.39462521C>G	Exception_encountered					LIAS_ENST00000340169.2_Missense_Mutation_p.L53V|LIAS_ENST00000513731.1_Missense_Mutation_p.L53V|LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000381846.1_Missense_Mutation_p.L53V	p.L53V	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN			2	275	+			53						Missense_Mutation	SNP	ENST00000449470.2	37	c.157C>G	CCDS3452.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914826	0.33815	.	.	ENSG00000121897	ENST00000340169;ENST00000261434;ENST00000513731;ENST00000381846	T;T;T;T	0.76709	-1.04;-1.03;-0.97;-1.03	6.06	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.75332	0.3835	N	0.11724	0.165	0.45076	D	0.998097	D;B;D;B;B	0.76494	0.998;0.012;0.999;0.002;0.104	D;B;D;B;B	0.83275	0.996;0.009;0.994;0.002;0.054	T	0.70733	-0.4791	10	0.20519	T	0.43	-17.8487	12.1762	0.54186	0.0:0.8692:0.0:0.1308	.	53;53;53;53;53	B4E0L7;C9JCF6;D6RCP8;O43766;Q6P5Q6	.;.;.;LIAS_HUMAN;.	V	53	ENSP00000340676:L53V;ENSP00000261434:L53V;ENSP00000425580:L53V;ENSP00000371270:L53V	ENSP00000261434:L53V	L	+	1	0	LIAS	39138916	0.914000	0.31030	1.000000	0.80357	0.979000	0.70002	1.681000	0.37618	2.880000	0.98712	0.650000	0.86243	CTT		0.403	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1			134	635	0	0	0	1	0	134	635				
BAP1	8314	broad.mit.edu	37	3	52439312	52439312	+	Splice_Site	SNP	T	T	G	rs112194987		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:52439312T>G	ENST00000460680.1	-	11	1403		c.e11-2		BAP1_ENST00000296288.5_Splice_Site	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTGCACCATCTGAGACAGGGC	0.587			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1				Rec	yes		3	3p21.31-p21.2	8314	"""N, Mis, F, S, O"""	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E		"""mesothelioma, uveal melanoma"""	"""uveal melanoma, breast, NSCLC, RCC"""		0				NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.e11-2		BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)							79.0	83.0	82.0					3																	52439312		2203	4300	6503	SO:0001630	splice_region_variant	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52439312T>G	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.932-2A>C	3.37:g.52439312T>G						BAP1_ENST00000296288.5_Splice_Site		NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	11	1403	-								B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Splice_Site	SNP	ENST00000460680.1	37		CCDS2853.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.074700	0.76415	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5477	0.68044	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BAP1	52414352	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	6.079000	0.71291	2.186000	0.69663	0.533000	0.62120	.		0.587	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		Intron	157	515	0	0	0	1	0	157	515				
PSAT1	29968	broad.mit.edu	37	9	80943962	80943962	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr9:80943962C>T	ENST00000376588.3	+	9	1141	c.1073C>T	c.(1072-1074)gCc>gTc	p.A358V	PSAT1_ENST00000347159.2_Missense_Mutation_p.A312V	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	358					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						CAGAAGCTGGCCGCCTTCATG	0.418																																					Colon(34;187 791 10662 18313 37609)	ENST00000376588.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(1072-1074)gCc>gTc		phosphoserine aminotransferase 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						95.0	90.0	92.0					9																	80943962		2203	4300	6503	SO:0001583	missense	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80943962C>T	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.1073C>T	9.37:g.80943962C>T	ENSP00000365773:p.Ala358Val					PSAT1_ENST00000347159.2_Missense_Mutation_p.A312V	p.A358V	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN			9	1141	+			358					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	ENST00000376588.3	37	c.1073C>T	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320249	0.23994	.	.	ENSG00000135069	ENST00000421149;ENST00000347159;ENST00000376588	T;T	0.60548	0.18;0.18	5.65	5.65	0.86999	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.35364	0.0929	N	0.16098	0.37	0.80722	D	1	B;P	0.37122	0.313;0.583	B;B	0.27887	0.084;0.042	T	0.41858	-0.9485	10	0.02654	T	1	-26.2845	19.6837	0.95973	0.0:1.0:0.0:0.0	.	312;358	Q9Y617-2;Q9Y617	.;SERC_HUMAN	V	182;312;358	ENSP00000317606:A312V;ENSP00000365773:A358V	ENSP00000317606:A312V	A	+	2	0	PSAT1	80133782	1.000000	0.71417	0.964000	0.40570	0.936000	0.57629	5.969000	0.70422	2.825000	0.97269	0.655000	0.94253	GCC		0.418	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		6	420	0	0	0	1	0	6	420				
HSP90AB1	3326	broad.mit.edu	37	6	44220861	44220861	+	Missense_Mutation	SNP	G	G	A	rs199628089		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:44220861G>A	ENST00000371554.1	+	11	2025	c.1811G>A	c.(1810-1812)cGg>cAg	p.R604Q	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R604Q|SLC35B2_ENST00000495706.1_5'Flank|MIR4647_ENST00000583964.1_RNA|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R604Q			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	604					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AATATGGAGCGGATCATGAAA	0.527																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(1810-1812)cGg>cAg		heat shock protein 90kDa alpha (cytosolic), class B member 1							61.0	63.0	63.0					6																	44220861		2203	4300	6503	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44220861G>A	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.1811G>A	6.37:g.44220861G>A	ENSP00000360609:p.Arg604Gln					HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R604Q|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R604Q	p.R604Q			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	2025	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		604					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.1811G>A	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	G	35	5.450487	0.96205	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.51574	0.7;0.7;0.7	4.56	4.56	0.56223	.	0.000000	0.64402	U	0.000002	T	0.54159	0.1841	M	0.83953	2.67	0.80722	D	1	D;D;D	0.65815	0.995;0.989;0.989	P;P;P	0.50314	0.637;0.637;0.541	T	0.65076	-0.6256	10	0.62326	D	0.03	-11.7731	17.2754	0.87113	0.0:0.0:1.0:0.0	.	566;594;604	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	Q	604	ENSP00000360709:R604Q;ENSP00000325875:R604Q;ENSP00000360609:R604Q	ENSP00000325875:R604Q	R	+	2	0	HSP90AB1	44328839	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.816000	0.86201	2.265000	0.75225	0.508000	0.49915	CGG		0.527	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		11	690	0	0	0	1	0	11	690				
DNAH3	55567	broad.mit.edu	37	16	21065824	21065824	+	Missense_Mutation	SNP	G	G	A	rs376419884		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr16:21065824G>A	ENST00000261383.3	-	28	3955	c.3956C>T	c.(3955-3957)gCg>gTg	p.A1319V	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1319V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1319	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GACAATCTGCGCAATCTGATC	0.542																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(3955-3957)gCg>gTg		dynein, axonemal, heavy chain 3		G	VAL/ALA	0,4402		0,0,2201	80.0	66.0	70.0		3956	5.8	1.0	16		70	3,8597	3.0+/-9.4	0,3,4297	no	missense	DNAH3	NM_017539.1	64	0,3,6498	AA,AG,GG		0.0349,0.0,0.0231	benign	1319/4117	21065824	3,12999	2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21065824G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3956C>T	16.37:g.21065824G>A	ENSP00000261383:p.Ala1319Val					DNAH3_ENST00000415178.1_Missense_Mutation_p.A1319V	p.A1319V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	28	3955	-			1319			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3956C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864451	0.51482	0.0	3.49E-4	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.59638	0.25;0.25	5.78	5.78	0.91487	.	0.071257	0.52532	D	0.000063	T	0.50565	0.1623	M	0.61703	1.905	0.40639	D	0.981922	P	0.39181	0.663	B	0.21708	0.036	T	0.59177	-0.7503	10	0.54805	T	0.06	.	15.6915	0.77457	0.0:0.2371:0.7629:0.0	.	1319	Q8TD57	DYH3_HUMAN	V	1319	ENSP00000261383:A1319V;ENSP00000394245:A1319V	ENSP00000261383:A1319V	A	-	2	0	DNAH3	20973325	0.190000	0.23276	1.000000	0.80357	0.968000	0.65278	0.421000	0.21280	2.894000	0.99253	0.591000	0.81541	GCG		0.542	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		73	259	0	0	0	1	0	73	259				
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:155887393T>G	ENST00000368321.3	-	11	1360	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q446P	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1336-1338)cAg>cCg		KIAA0907							14.0	18.0	16.0					1																	155887393		2157	4273	6430	SO:0001583	missense	22889							g.chr1:155887393T>G	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1337A>C	1.37:g.155887393T>G	ENSP00000357304:p.Gln446Pro					KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P	p.Q446P			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1362	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		446			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1337A>C	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.413076	0.25465	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.32753	1.44;1.44	5.76	0.471	0.16752	.	0.977681	0.08344	N	0.960281	T	0.04003	0.0112	N	0.03608	-0.345	0.29419	N	0.860713	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43442	-0.9391	10	0.22706	T	0.39	.	8.2981	0.31997	0.1873:0.0:0.4136:0.3991	.	446;446	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	P	446	ENSP00000357304:Q446P;ENSP00000357303:Q446P	ENSP00000357303:Q446P	Q	-	2	0	KIAA0907	154154017	0.988000	0.35896	0.899000	0.35326	0.963000	0.63663	-0.615000	0.05597	-0.064000	0.13043	0.533000	0.62120	CAG		0.567	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		21	180	0	0	0	1	0	21	180				
CSPG5	10675	broad.mit.edu	37	3	47618421	47618421	+	Silent	SNP	C	C	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:47618421C>T	ENST00000383738.2	-	2	3193	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R	CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000456150.1_Silent_p.R227R|CSPG5_ENST00000264723.4_Silent_p.R365R	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		8	865	0	0	0	1	0	8	865				
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs201252723	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373																																						ENST00000453498.1																			0																																																			0							g.chr13:25168432T>C																													13.37:g.25168432T>C														0	1104	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.373	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			5	165	0	0	0	1	0	5	165				
SUN1	23353	broad.mit.edu	37	7	897577	897577	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:897577G>A	ENST00000405266.1	+	14	1642	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N	SUN1_ENST00000456758.2_Missense_Mutation_p.D692N|SUN1_ENST00000413514.2_Missense_Mutation_p.D301N|SUN1_ENST00000452783.2_Missense_Mutation_p.D400N|SUN1_ENST00000425407.2_Missense_Mutation_p.D420N|SUN1_ENST00000389574.3_Missense_Mutation_p.D420N|SUN1_ENST00000401592.1_Missense_Mutation_p.D503N			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	530					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)		p.D420N(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGAGACAGTGGATGCCGTACA	0.458																																						ENST00000456758.2																			1	Substitution - Missense(1)	p.D420N(1)	upper_aerodigestive_tract(1)	NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2074-2076)Gat>Aat		Sad1 and UNC84 domain containing 1							127.0	136.0	133.0					7																	897577		1972	4144	6116	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:897577G>A	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1618G>A	7.37:g.897577G>A	ENSP00000384116:p.Asp540Asn					SUN1_ENST00000452783.2_Missense_Mutation_p.D400N|SUN1_ENST00000401592.1_Missense_Mutation_p.D503N|SUN1_ENST00000389574.3_Missense_Mutation_p.D420N|SUN1_ENST00000413514.2_Missense_Mutation_p.D301N|SUN1_ENST00000405266.1_Missense_Mutation_p.D540N|SUN1_ENST00000425407.2_Missense_Mutation_p.D420N	p.D692N			O94901	SUN1_HUMAN			19	2074	+			530			SUN.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.2074G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.49|15.49	2.849577|2.849577	0.51270|0.51270	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514|ENST00000433212	T;T;T;T;T;T;T;T|.	0.26223|.	2.03;2.09;2.1;2.09;2.09;2.09;1.75;1.8|.	4.84|4.84	3.0|3.0	0.34707|0.34707	.|.	0.259166|.	0.35525|.	N|.	0.003149|.	T|T	0.55513|0.55513	0.1925|0.1925	M|M	0.73598|0.73598	2.24|2.24	0.09310|0.09310	N|N	0.999999|0.999999	D;D;P;D;P;D|.	0.67145|.	0.991;0.996;0.952;0.991;0.799;0.986|.	P;P;P;P;B;P|.	0.60886|.	0.59;0.786;0.612;0.748;0.318;0.88|.	T|T	0.46133|0.46133	-0.9213|-0.9213	10|5	0.72032|.	D|.	0.01|.	-8.9673|-8.9673	9.6429|9.6429	0.39850|0.39850	0.1425:0.0:0.8575:0.0|0.1425:0.0:0.8575:0.0	.|.	301;400;503;692;530;420|.	E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5|.	.;.;.;.;SUN1_HUMAN;.|.	N|E	692;420;400;540;503;530;420;428;301|351	ENSP00000388743:D692N;ENSP00000374225:D420N;ENSP00000413439:D400N;ENSP00000384116:D540N;ENSP00000384015:D503N;ENSP00000392309:D420N;ENSP00000409909:D428N;ENSP00000389313:D301N|.	ENSP00000297445:D530N|.	D|G	+|+	1|2	0|0	SUN1|SUN1	864103|864103	0.020000|0.020000	0.18652|0.18652	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	1.074000|1.074000	0.30703|0.30703	0.542000|0.542000	0.28846|0.28846	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.458	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		168	788	0	0	0	1	0	168	788				
ZNF107	51427	broad.mit.edu	37	7	64166850	64166850	+	Silent	SNP	G	G	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:64166850G>A	ENST00000395391.1	+	4	1543	c.168G>A	c.(166-168)ggG>ggA	p.G56G	ZNF107_ENST00000344930.3_Silent_p.G56G|ZNF107_ENST00000423627.1_Silent_p.G56G			Q9UII5	ZN107_HUMAN	zinc finger protein 107	56					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)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AGTGTACGGGGCACAAAGGAG	0.348																																						ENST00000395391.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37						c.(166-168)ggG>ggA		zinc finger protein 107							82.0	73.0	76.0					7																	64166850		2203	4300	6503	SO:0001819	synonymous_variant	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64166850G>A	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.168G>A	7.37:g.64166850G>A						ZNF107_ENST00000423627.1_Silent_p.G56G|ZNF107_ENST00000344930.3_Silent_p.G56G	p.G56G			Q9UII5	ZN107_HUMAN			4	1543	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	56						Silent	SNP	ENST00000395391.1	37	c.168G>A	CCDS5527.1																																																																																				0.348	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		5	354	0	0	0	1	0	5	354				
CTNNB1	1499	broad.mit.edu	37	3	41277892	41277892	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:41277892G>A	ENST00000349496.5	+	12	2136	c.1856G>A	c.(1855-1857)tGt>tAt	p.C619Y	CTNNB1_ENST00000405570.1_Missense_Mutation_p.C619Y|CTNNB1_ENST00000396185.3_Missense_Mutation_p.C619Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.C612Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.C619Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	619					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.C619Y(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GGGGTCCTCTGTGAACTTGCT	0.438		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	1	Substitution - Missense(1)	p.C619Y(1)	large_intestine(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(1855-1857)tGt>tAt		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						129.0	135.0	133.0					3																	41277892		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41277892G>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1856G>A	3.37:g.41277892G>A	ENSP00000344456:p.Cys619Tyr					CTNNB1_ENST00000396185.3_Missense_Mutation_p.C619Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.C619Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.C619Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.C612Y	p.C619Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	12	2136	+			619					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1856G>A	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352586	0.82132	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.040249	0.85682	D	0.000000	T	0.82208	0.4987	M	0.80616	2.505	0.80722	D	1	P;D;P	0.63046	0.837;0.992;0.923	B;D;P	0.65573	0.332;0.936;0.455	T	0.80353	-0.1418	10	0.33940	T	0.23	-14.298	19.6229	0.95667	0.0:0.0:1.0:0.0	.	547;54;619	B4DSW9;P35222-2;P35222	.;.;CTNB1_HUMAN	Y	619;619;619;612;619	ENSP00000385604:C619Y;ENSP00000379486:C619Y;ENSP00000344456:C619Y;ENSP00000411226:C612Y;ENSP00000379488:C619Y	ENSP00000344456:C619Y	C	+	2	0	CTNNB1	41252896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.628000	0.89032	0.655000	0.94253	TGT		0.438	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		176	812	0	0	0	1	0	176	812				
GRIN3A	116443	broad.mit.edu	37	9	104432526	104432526	+	Missense_Mutation	SNP	C	C	G			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr9:104432526C>G	ENST00000361820.3	-	3	2768	c.2168G>C	c.(2167-2169)tGt>tCt	p.C723S		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	723					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GAGGGCATAACAGATGTTCAA	0.433																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(2167-2169)tGt>tCt		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						116.0	114.0	114.0					9																	104432526		2202	4300	6502	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104432526C>G		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2168G>C	9.37:g.104432526C>G	ENSP00000355155:p.Cys723Ser						p.C723S	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			3	2768	-		Acute lymphoblastic leukemia(62;0.0568)	723					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.2168G>C	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052266	0.75960	.	.	ENSG00000198785	ENST00000361820	T	0.48201	0.82	5.39	5.39	0.77823	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.56093	0.1962	L	0.31157	0.91	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.42899	-0.9424	10	0.12430	T	0.62	.	19.5908	0.95509	0.0:1.0:0.0:0.0	.	723	Q8TCU5	NMD3A_HUMAN	S	723	ENSP00000355155:C723S	ENSP00000355155:C723S	C	-	2	0	GRIN3A	103472347	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.773000	0.85462	2.714000	0.92807	0.580000	0.79431	TGT		0.433	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			6	610	0	0	0	1	0	6	610				
LONRF3	79836	broad.mit.edu	37	X	118140187	118140187	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chrX:118140187G>A	ENST00000371628.3	+	6	1550	c.1519G>A	c.(1519-1521)Ggt>Agt	p.G507S	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Missense_Mutation_p.G251S|LONRF3_ENST00000304778.7_Missense_Mutation_p.G466S	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	507							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GTGCAAAGACGGTCTTTCACA	0.368																																						ENST00000365713.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1396-1398)Ggt>Agt		LON peptidase N-terminal domain and ring finger 3							202.0	189.0	193.0					X																	118140187		2203	4300	6503	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118140187G>A	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1519G>A	X.37:g.118140187G>A	ENSP00000360690:p.Gly507Ser					LONRF3_ENST00000304778.7_Missense_Mutation_p.G466S|LONRF3_ENST00000371628.3_Missense_Mutation_p.G507S|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Missense_Mutation_p.G251S	p.G466S			Q496Y0	LONF3_HUMAN			5	1559	+			507					Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.1396G>A	CCDS35374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.658|2.658	-0.280337|-0.280337	0.05642|0.05642	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289|ENST00000439603	T;T;T;T|.	0.15834|.	2.39;2.39;2.39;2.39|.	5.68|5.68	3.89|3.89	0.44902|0.44902	Zinc finger, RING/FYVE/PHD-type (1);|.	0.276612|.	0.35262|.	N|.	0.003335|.	T|T	0.29423|0.29423	0.0733|0.0733	N|N	0.16567|0.16567	0.415|0.415	0.09310|0.09310	N|N	1|1	B;B;B|.	0.19817|.	0.039;0.018;0.021|.	B;B;B|.	0.15052|.	0.005;0.012;0.005|.	T|T	0.18085|0.18085	-1.0348|-1.0348	10|5	0.08381|.	T|.	0.77|.	-30.4685|-30.4685	10.8398|10.8398	0.46708|0.46708	0.1587:0.0:0.8413:0.0|0.1587:0.0:0.8413:0.0	.|.	251;466;507|.	B3KUN7;Q496Y0-2;Q496Y0|.	.;.;LONF3_HUMAN|.	S|Q	466;466;507;251|272	ENSP00000360691:G466S;ENSP00000307732:G466S;ENSP00000360690:G507S;ENSP00000408894:G251S|.	ENSP00000307732:G466S|.	G|R	+|+	1|2	0|0	LONRF3|LONRF3	118024215|118024215	0.386000|0.386000	0.25180|0.25180	0.854000|0.854000	0.33618|0.33618	0.966000|0.966000	0.64601|0.64601	2.033000|2.033000	0.41136|0.41136	1.146000|1.146000	0.42352|0.42352	0.594000|0.594000	0.82650|0.82650	GGT|CGG		0.368	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		267	499	0	0	0	1	0	267	499				
PCDHB2	56133	broad.mit.edu	37	5	140476009	140476009	+	Silent	SNP	C	C	T	rs147433427		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr5:140476009C>T	ENST00000194155.4	+	1	1783	c.1635C>T	c.(1633-1635)agC>agT	p.S545S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	545	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTGAGCAGCGAGGCGCTGG	0.706																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1633-1635)agC>agT									35.0	39.0	37.0					5																	140476009		2200	4296	6496	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476009C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1635C>T	5.37:g.140476009C>T							p.S545S	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1783	+			545			Cadherin 5.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.1635C>T	CCDS4244.1																																																																																				0.706	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		43	376	0	0	0	1	0	43	376				
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	lincRNA	SNP	G	G	A	rs28392876	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCTTCCGCCGGGCCAGCAGC	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946438G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946438G>A														0	1081	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		7	151	0	0	0	1	0	7	151				
TGFBR1	7046	broad.mit.edu	37	9	101911535	101911535	+	Missense_Mutation	SNP	G	G	A	rs113605875		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr9:101911535G>A	ENST00000374994.4	+	9	1577	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	TGFBR1_ENST00000374990.2_Missense_Mutation_p.R410Q|TGFBR1_ENST00000552516.1_Missense_Mutation_p.R491Q|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R418Q	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	487	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> P (in LDS1). {ECO:0000269|PubMed:15731757, ECO:0000269|PubMed:16928994}.|R -> Q (in LDS1). {ECO:0000269|PubMed:16791849, ECO:0000269|PubMed:16928994, ECO:0000269|PubMed:22113417}.|R -> W (in LDS1). {ECO:0000269|PubMed:16928994}.		activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ACAGCATTGCGGATTAAGAAA	0.373																																						ENST00000374994.4																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27	GRCh37	CM050757|CM063198	TGFBR1	M	rs113605875	c.(1459-1461)cGg>cAg		transforming growth factor, beta receptor 1							87.0	79.0	82.0					9																	101911535		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101911535G>A		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.1460G>A	9.37:g.101911535G>A	ENSP00000364133:p.Arg487Gln					TGFBR1_ENST00000374990.2_Missense_Mutation_p.R410Q|TGFBR1_ENST00000552516.1_Missense_Mutation_p.R491Q|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R418Q	p.R487Q	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN			9	1577	+		Acute lymphoblastic leukemia(62;0.0559)	487		R -> P (in LDS1A and LDS2A).|R -> Q (in LDS2A and AAT5).|R -> W (in LDS2A).	Protein kinase.		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.1460G>A	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907570	0.92107	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.66	5.66	0.87406	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95201	0.8444	L	0.55103	1.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.916;0.999	D	0.95213	0.8327	10	0.87932	D	0	.	18.8853	0.92375	0.0:0.0:1.0:0.0	.	410;487	P36897-3;P36897	.;TGFR1_HUMAN	Q	487;449;410;491;418	ENSP00000364133:R487Q;ENSP00000364129:R410Q;ENSP00000447297:R491Q;ENSP00000450052:R418Q	ENSP00000364129:R410Q	R	+	2	0	TGFBR1	100951356	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.827000	0.97445	0.655000	0.94253	CGG		0.373	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			53	165	0	0	0	1	0	53	165				
TPTE2P2	644623	broad.mit.edu	37	13	52803480	52803480	+	RNA	SNP	G	G	T	rs376784705		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr13:52803480G>T	ENST00000451298.1	-	0	1024				TPTE2P2_ENST00000606973.1_RNA														p.F117L(1)									AATAAATAACGAATCTTTTTA	0.363																																						ENST00000451298.1																			1	Substitution - Missense(1)	p.F117L(1)	kidney(1)																																																0							g.chr13:52803480G>T																													13.37:g.52803480G>T						RP11-64P12.8_ENST00000606031.1_RNA								0	1024	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.363	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			4	66	1	0	2.56e-06	1	2.64649e-06	4	66				
GPANK1	7918	broad.mit.edu	37	6	31631675	31631675	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:31631675C>T	ENST00000375906.1	-	3	1265	c.581G>A	c.(580-582)cGc>cAc	p.R194H	GPANK1_ENST00000375900.4_Missense_Mutation_p.R194H|CSNK2B-LY6G5B-1181_ENST00000375880.2_5'Flank|CSNK2B_ENST00000375882.2_5'Flank|GPANK1_ENST00000375895.2_Missense_Mutation_p.R194H|CSNK2B_ENST00000375865.2_5'Flank|CSNK2B_ENST00000375885.4_5'Flank|GPANK1_ENST00000375893.2_Missense_Mutation_p.R194H|Y_RNA_ENST00000364337.1_RNA|GPANK1_ENST00000375896.4_Missense_Mutation_p.R194H|CSNK2B_ENST00000375866.2_5'Flank	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	194							nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						CCTGACCATGCGGGCTACCTC	0.607																																						ENST00000375906.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						c.(580-582)cGc>cAc		G patch domain and ankyrin repeats 1							86.0	89.0	88.0					6																	31631675		2203	4300	6503	SO:0001583	missense	7918					intracellular	nucleic acid binding	g.chr6:31631675C>T		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"""Ankyrin repeat domain containing"", ""G patch domain containing"""	13920	protein-coding gene	gene with protein product	"""G patch domain containing 10"", ""ankyrin repeat domain 59"""	142610	"""HLA-B associated transcript 4"""	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.581G>A	6.37:g.31631675C>T	ENSP00000365071:p.Arg194His					GPANK1_ENST00000375896.4_Missense_Mutation_p.R194H|GPANK1_ENST00000375895.2_Missense_Mutation_p.R194H|GPANK1_ENST00000375900.4_Missense_Mutation_p.R194H|GPANK1_ENST00000375893.2_Missense_Mutation_p.R194H	p.R194H	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN			3	1265	-			194					A6NG25|B0UXA2|Q5SQ49	Missense_Mutation	SNP	ENST00000375906.1	37	c.581G>A	CCDS4711.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496138	0.85069	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900;ENST00000440842	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.46	4.59	0.56863	Ankyrin repeat-containing domain (3);	0.315937	0.31747	N	0.007135	T	0.48277	0.1491	L	0.46741	1.465	0.42968	D	0.994425	P	0.47962	0.903	P	0.48952	0.596	T	0.49542	-0.8929	10	0.36615	T	0.2	-2.1712	10.3773	0.44090	0.0:0.9089:0.0:0.0911	.	194	O95872	GPAN1_HUMAN	H	194	ENSP00000365071:R194H;ENSP00000365060:R194H;ENSP00000365057:R194H;ENSP00000365059:R194H;ENSP00000365065:R194H	ENSP00000365057:R194H	R	-	2	0	GPANK1	31739654	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	1.773000	0.38563	1.300000	0.44818	-0.291000	0.09656	CGC		0.607	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		6	489	0	0	0	1	0	6	489				
FOLH1B	219595	broad.mit.edu	37	11	89405142	89405142	+	RNA	SNP	C	C	T	rs3018757		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr11:89405142C>T	ENST00000532352.1	+	0	1082							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GTTCATGAAACTGTGAGGAGC	0.433																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B							208.0	185.0	193.0					11																	89405142		2201	4299	6500			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89405142C>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89405142C>T										Q9HBA9	FOH1B_HUMAN			0	1082	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.433	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		7	674	0	0	0	1	0	7	674				
B4GALNT2	124872	broad.mit.edu	37	17	47246916	47246916	+	Silent	SNP	C	C	A	rs148956387	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr17:47246916C>A	ENST00000300404.2	+	11	1586	c.1527C>A	c.(1525-1527)ctC>ctA	p.L509L	B4GALNT2_ENST00000393354.2_Silent_p.L449L|RP11-708H21.4_ENST00000575159.1_lincRNA|B4GALNT2_ENST00000504681.1_Silent_p.L423L	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	509					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GGACCCTACTCGTGGGGTCAT	0.522																																					GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1525-1527)ctC>ctA		beta-1,4-N-acetyl-galactosaminyl transferase 2							82.0	84.0	83.0					17																	47246916		2203	4300	6503	SO:0001819	synonymous_variant	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47246916C>A	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1527C>A	17.37:g.47246916C>A						B4GALNT2_ENST00000393354.2_Silent_p.L449L|B4GALNT2_ENST00000504681.1_Silent_p.L423L	p.L509L	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		11	1586	+			509					B4DZE4|Q14CP1|Q86Y40	Silent	SNP	ENST00000300404.2	37	c.1527C>A	CCDS11544.1																																																																																				0.522	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		96	472	1	0	1.54295e-31	1	1.62808e-31	96	472				
MARCH5	54708	broad.mit.edu	37	10	94110927	94110927	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:94110927G>A	ENST00000358935.2	+	6	1132	c.800G>A	c.(799-801)cGc>cAc	p.R267H		NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	267					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CAGGCACACCGCAAAATTCTG	0.353																																						ENST00000358935.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(799-801)cGc>cAc		membrane-associated ring finger (C3HC4) 5							82.0	78.0	79.0					10																	94110927		2203	4300	6503	SO:0001583	missense	54708				cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr10:94110927G>A	BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26025	protein-coding gene	gene with protein product		610637	"""ring finger protein 153"""	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.800G>A	10.37:g.94110927G>A	ENSP00000351813:p.Arg267His						p.R267H	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN			6	1132	+			267						Missense_Mutation	SNP	ENST00000358935.2	37	c.800G>A	CCDS7420.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627017	0.87560	.	.	ENSG00000198060	ENST00000358935	T	0.70986	-0.53	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.87067	0.6085	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88657	0.3186	10	0.87932	D	0	-4.1613	19.6604	0.95864	0.0:0.0:1.0:0.0	.	267	Q9NX47	MARH5_HUMAN	H	267	ENSP00000351813:R267H	ENSP00000351813:R267H	R	+	2	0	MARCH5	94100907	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.378000	0.97191	2.648000	0.89879	0.655000	0.94253	CGC		0.353	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049388.1	NM_017824		6	417	0	0	0	1	0	6	417				
FMN1	342184	broad.mit.edu	37	15	33261055	33261055	+	Silent	SNP	T	T	G			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr15:33261055T>G	ENST00000559047.1	-	5	2846	c.2847A>C	c.(2845-2847)ccA>ccC	p.P949P	FMN1_ENST00000334528.9_Silent_p.P726P|SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000561249.1_Silent_p.P851P			Q68DA7	FMN1_HUMAN	formin 1	949	FH1.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GTGCAAGTCCTGGGGGTGGTG	0.622																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(2176-2178)ccA>ccC		formin 1							26.0	27.0	27.0					15																	33261055		1775	3996	5771	SO:0001819	synonymous_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261055T>G	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2847A>C	15.37:g.33261055T>G						FMN1_ENST00000561249.1_Silent_p.P851P|FMN1_ENST00000559047.1_Silent_p.P949P	p.P726P	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	2177	-		all_lung(180;1.14e-07)	949			Mediates interaction with alpha-catenin (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37	c.2178A>C																																																																																					0.622	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		14	183	0	0	0	1	0	14	183				
AGPAT3	56894	broad.mit.edu	37	21	45402220	45402220	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr21:45402220G>A	ENST00000398063.2	+	9	1570	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	AGPAT3_ENST00000398061.1_Missense_Mutation_p.E360K|AGPAT3_ENST00000327505.2_Missense_Mutation_p.E360K|AGPAT3_ENST00000546158.1_Missense_Mutation_p.E360K|AGPAT3_ENST00000291572.8_Missense_Mutation_p.E360K|AGPAT3_ENST00000398058.1_Missense_Mutation_p.E360K|AGPAT3_ENST00000479117.1_3'UTR	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	360				VTEIEKGSSYGNQEFKKKE -> ESLEPGRWRLQ (in Ref. 3; AAQ89067). {ECO:0000305}.	CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		AGGAGTAACTGAGATAGAAAA	0.453																																					Pancreas(60;623 1650 5574 52796)	ENST00000398063.2																			0				large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11						c.(1078-1080)Gag>Aag		1-acylglycerol-3-phosphate O-acyltransferase 3							140.0	150.0	147.0					21																	45402220		2203	4300	6503	SO:0001583	missense	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45402220G>A	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.1078G>A	21.37:g.45402220G>A	ENSP00000381140:p.Glu360Lys					AGPAT3_ENST00000546158.1_Missense_Mutation_p.E360K|AGPAT3_ENST00000398058.1_Missense_Mutation_p.E360K|AGPAT3_ENST00000398061.1_Missense_Mutation_p.E360K|AGPAT3_ENST00000327505.2_Missense_Mutation_p.E360K|AGPAT3_ENST00000291572.8_Missense_Mutation_p.E360K|AGPAT3_ENST00000479117.1_3'UTR	p.E360K	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	9	1570	+			360	VTEIEKGSSYGNQEFKKKE -> ESLEPGRWRLQ (in Ref. 3; AAQ89067).				D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Missense_Mutation	SNP	ENST00000398063.2	37	c.1078G>A	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.651324	0.67472	.	.	ENSG00000160216	ENST00000291572;ENST00000398061;ENST00000327505;ENST00000398063;ENST00000398058;ENST00000546158	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	4.64	4.64	0.57946	.	0.107744	0.64402	D	0.000008	T	0.81202	0.4773	L	0.41415	1.275	0.80722	D	1	P;B	0.44627	0.839;0.089	P;B	0.56563	0.801;0.062	T	0.79240	-0.1885	10	0.33141	T	0.24	-24.2516	17.7067	0.88310	0.0:0.0:1.0:0.0	.	380;360	Q9NRZ7-3;Q9NRZ7	.;PLCC_HUMAN	K	360	ENSP00000291572:E360K;ENSP00000381138:E360K;ENSP00000332989:E360K;ENSP00000381140:E360K;ENSP00000381135:E360K;ENSP00000443510:E360K	ENSP00000291572:E360K	E	+	1	0	AGPAT3	44226648	1.000000	0.71417	0.856000	0.33681	0.918000	0.54935	8.597000	0.90847	2.409000	0.81822	0.563000	0.77884	GAG		0.453	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		206	1003	0	0	0	1	0	206	1003				
GRM8	2918	broad.mit.edu	37	7	126173847	126173847	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:126173847T>G	ENST00000339582.2	-	9	2397	c.1589A>C	c.(1588-1590)aAa>aCa	p.K530T	GRM8_ENST00000444921.2_Missense_Mutation_p.K530T|GRM8_ENST00000358373.3_Missense_Mutation_p.K530T|GRM8_ENST00000480995.1_Intron			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	530					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AGGGACCCCTTTCACCGTTTT	0.557										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1588-1590)aAa>aCa		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						90.0	89.0	89.0					7																	126173847		2203	4300	6503	SO:0001583	missense	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173847T>G		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1589A>C	7.37:g.126173847T>G	ENSP00000344173:p.Lys530Thr	HNSCC(24;0.065)				GRM8_ENST00000480995.1_Intron|GRM8_ENST00000358373.3_Missense_Mutation_p.K530T|GRM8_ENST00000444921.2_Missense_Mutation_p.K530T	p.K530T			O00222	GRM8_HUMAN			9	2397	-		Prostate(267;0.186)	530					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1589A>C	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195203	0.58017	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.90261	-2.64;-2.64;-2.64	5.8	5.8	0.92144	GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.91912	0.7439	M	0.84433	2.695	0.80722	D	1	P;B	0.45827	0.867;0.061	B;B	0.42282	0.382;0.063	D	0.92881	0.6323	10	0.62326	D	0.03	.	15.3289	0.74190	0.0:0.0:0.0:1.0	.	530;530	O00222-2;O00222	.;GRM8_HUMAN	T	530	ENSP00000344173:K530T;ENSP00000409790:K530T;ENSP00000351142:K530T	ENSP00000344173:K530T	K	-	2	0	GRM8	125961083	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.032000	0.88838	2.226000	0.72624	0.523000	0.50628	AAA		0.557	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			17	669	0	0	0	1	0	17	669				
SMYD1	150572	broad.mit.edu	37	2	88387407	88387407	+	Missense_Mutation	SNP	T	T	G	rs530943158	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:88387407T>G	ENST00000419482.2	+	3	426	c.341T>G	c.(340-342)gTg>gGg	p.V114G	SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.V114G	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	114	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.V114G(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						ATGTGGCGGGTGGAGAGAGAA	0.612													T|||	182	0.0363419	0.1006	0.0259	5008	,	,		15470	0.004		0.0119	False		,,,				2504	0.0153					ENST00000419482.2																			1	Substitution - Missense(1)	p.V114G(1)	urinary_tract(1)	NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(340-342)gTg>gGg		SET and MYND domain containing 1							43.0	39.0	40.0					2																	88387407		2202	4300	6502	SO:0001583	missense	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88387407T>G	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.341T>G	2.37:g.88387407T>G	ENSP00000393453:p.Val114Gly					SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000444564.2_Missense_Mutation_p.V114G|SMYD1_ENST00000438570.1_Intron	p.V114G	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN			3	426	+			114					A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	c.341T>G	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609633	0.87258	.	.	ENSG00000115593	ENST00000419482;ENST00000444564	T;T	0.14022	2.54;2.54	4.82	4.82	0.62117	SET domain (2);	0.223458	0.44688	D	0.000422	T	0.14917	0.0360	N	0.08118	0	0.80722	D	1	D	0.56746	0.977	P	0.56398	0.797	T	0.16808	-1.0390	10	0.72032	D	0.01	-24.9689	13.8424	0.63446	0.0:0.0:0.0:1.0	.	114	Q8NB12	SMYD1_HUMAN	G	114	ENSP00000393453:V114G;ENSP00000407888:V114G	ENSP00000393453:V114G	V	+	2	0	SMYD1	88168522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.601000	0.82783	1.914000	0.55421	0.459000	0.35465	GTG		0.612	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		13	91	0	0	0	1	0	13	91				
LINC00969	440993	broad.mit.edu	37	3	195410689	195410689	+	lincRNA	SNP	C	C	T	rs6583275	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:195410689C>T	ENST00000445430.1	+	0	1886									long intergenic non-protein coding RNA 969																		CTTTGAGGTGCACTGGAGGAA	0.567													.|||	701	0.139976	0.0552	0.1571	5008	,	,		35599	0.1855		0.16	False		,,,				2504	0.1748					ENST00000445430.1																			0																																																			0							g.chr3:195410689C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410689C>T														0	1886	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.567	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			10	109	0	0	0	1	0	10	109				
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000332482.4_Silent_p.Q2706Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52.0	42.0	46.0					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A						EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000332482.4_Silent_p.Q2706Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	328	0	0	0	1	0	5	328				
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	lincRNA	SNP	C	C	T	rs367060	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCAGCCTTCCGCCGGGCCAG	0.672													.|||	253	0.0505192	0.115	0.0533	5008	,	,		65734	0.0119		0.0437	False		,,,				2504	0.0082					ENST00000412962.1																			0																																																			0							g.chr1:16946434C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946434C>T														0	1085	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		6	156	0	0	0	1	0	6	156				
SLC35G3	146861	broad.mit.edu	37	17	33520323	33520323	+	Missense_Mutation	SNP	C	C	T	rs369787605		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr17:33520323C>T	ENST00000297307.5	-	1	1089	c.1004G>A	c.(1003-1005)aGg>aAg	p.R335K	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	335						integral component of membrane (GO:0016021)		p.R335K(4)									CTCCTCCACCCTCCCTGTCCT	0.557																																						ENST00000297307.5																			4	Substitution - Missense(4)	p.R335K(4)	lung(2)|urinary_tract(1)|prostate(1)								c.(1003-1005)aGg>aAg		solute carrier family 35, member G3							57.0	57.0	57.0					17																	33520323		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520323C>T	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.1004G>A	17.37:g.33520323C>T	ENSP00000297307:p.Arg335Lys						p.R335K	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1089	-			335					B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.1004G>A	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.031780	0.00410	.	.	ENSG00000164729	ENST00000297307	T	0.24723	1.84	.	.	.	.	1.165660	0.06508	N	0.737480	T	0.10723	0.0262	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34378	-0.9831	8	0.07990	T	0.79	0.0	.	.	.	.	335	Q8N808	S35G3_HUMAN	K	335	ENSP00000297307:R335K	ENSP00000297307:R335K	R	-	2	0	SLC35G3	30544436	0.002000	0.14202	0.046000	0.18839	0.046000	0.14306	-1.876000	0.01633	-2.037000	0.00920	-2.088000	0.00374	AGG		0.557	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		6	369	0	0	0	1	0	6	369				
BAIAP2	10458	broad.mit.edu	37	17	79078379	79078379	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr17:79078379C>T	ENST00000321300.6	+	10	1225	c.1132C>T	c.(1132-1134)Cgg>Tgg	p.R378W	BAIAP2_ENST00000392411.3_Missense_Mutation_p.R300W|BAIAP2_ENST00000575245.1_Missense_Mutation_p.R411W|BAIAP2_ENST00000435091.3_Missense_Mutation_p.R378W|BAIAP2_ENST00000321280.7_Missense_Mutation_p.R378W|BAIAP2_ENST00000416299.2_Missense_Mutation_p.R241W|BAIAP2_ENST00000428708.2_Missense_Mutation_p.R378W|BAIAP2_ENST00000575712.1_Missense_Mutation_p.R378W	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	378	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGGCCGTATGCGGGTGAAGGC	0.642																																						ENST00000321300.6																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.(1132-1134)Cgg>Tgg		BAI1-associated protein 2							50.0	48.0	49.0					17																	79078379		2202	4299	6501	SO:0001583	missense	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79078379C>T	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.1132C>T	17.37:g.79078379C>T	ENSP00000316338:p.Arg378Trp					BAIAP2_ENST00000575245.1_Missense_Mutation_p.R411W|BAIAP2_ENST00000416299.2_Missense_Mutation_p.R241W|BAIAP2_ENST00000392411.3_Missense_Mutation_p.R300W|BAIAP2_ENST00000575712.1_Missense_Mutation_p.R378W|BAIAP2_ENST00000321280.7_Missense_Mutation_p.R378W|BAIAP2_ENST00000435091.3_Missense_Mutation_p.R378W|BAIAP2_ENST00000428708.2_Missense_Mutation_p.R378W	p.R378W	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		10	1225	+	all_neural(118;0.101)		378			SH3.		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	c.1132C>T	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889006	0.72524	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	T;T;T;T;T;T	0.37411	1.64;1.66;1.21;1.21;1.65;1.2	4.79	2.58	0.30949	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.91920	3.255	0.58432	D	0.999998	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	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.999;1.0;0.999;0.999;0.999	T	0.75651	-0.3244	10	0.87932	D	0	-18.6775	13.6331	0.62206	0.3669:0.6331:0.0:0.0	.	241;300;379;378;378;378;378;379;378	B4DWA1;F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;.;BAIP2_HUMAN;.;.;.;.;.	W	378;378;378;378;300;241	ENSP00000316338:R378W;ENSP00000401022:R378W;ENSP00000413069:R378W;ENSP00000315685:R378W;ENSP00000376211:R300W;ENSP00000391837:R241W	ENSP00000315685:R378W	R	+	1	2	BAIAP2	76692974	0.985000	0.35326	1.000000	0.80357	0.889000	0.51656	0.882000	0.28186	1.110000	0.41699	0.484000	0.47621	CGG		0.642	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			5	413	0	0	0	1	0	5	413				
TPTE2P6	374491	broad.mit.edu	37	13	25168501	25168501	+	RNA	SNP	G	G	A	rs4770716	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr13:25168501G>A	ENST00000453498.1	+	0	1173				TPTE2P6_ENST00000440905.1_RNA																							TTTTCTCTTCGGTGAGTAATC	0.388													.|||	851	0.169928	0.1914	0.183	5008	,	,		15991	0.0982		0.2634	False		,,,				2504	0.1094					ENST00000453498.1																			0																																																			0							g.chr13:25168501G>A																													13.37:g.25168501G>A														0	1173	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.388	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			5	192	0	0	0	1	0	5	192				
ACTA1	58	broad.mit.edu	37	1	229567782	229567782	+	Missense_Mutation	SNP	C	C	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:229567782C>A	ENST00000366684.3	-	5	869	c.767G>T	c.(766-768)cGc>cTc	p.R256L	ACTA1_ENST00000366683.2_Missense_Mutation_p.R168L	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	256					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				GCAGCGGAAGCGCTCGTTGCC	0.716																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(766-768)cGc>cTc		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						25.0	24.0	25.0					1																	229567782		2202	4297	6499	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229567782C>A	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.767G>T	1.37:g.229567782C>A	ENSP00000355645:p.Arg256Leu					ACTA1_ENST00000366683.2_Missense_Mutation_p.R168L	p.R256L	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			5	869	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	256					P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.767G>T	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609495	0.66558	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682	D;D	0.97232	-4.3;-4.3	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	D	0.98394	0.9466	M	0.84082	2.675	0.80722	D	1	D	0.63880	0.993	D	0.77004	0.989	D	0.99686	1.1000	10	0.87932	D	0	.	16.8952	0.86098	0.0:1.0:0.0:0.0	.	256	P68133	ACTS_HUMAN	L	256;166;168;221	ENSP00000355645:R256L;ENSP00000355644:R168L	ENSP00000312351:R166L	R	-	2	0	ACTA1	227634405	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.575000	0.82447	2.201000	0.70794	0.563000	0.77884	CGC		0.716	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		4	119	1	0	1	1	1	4	119				
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	lincRNA	SNP	T	T	A	rs6583274	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884									long intergenic non-protein coding RNA 969																		CCCTTTGAGGTGCACTGGAGG	0.567													.|||	701	0.139976	0.0552	0.1571	5008	,	,		36746	0.1855		0.16	False		,,,				2504	0.1748					ENST00000445430.1																			0																																																			0							g.chr3:195410687T>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410687T>A														0	1884	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.567	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			9	112	0	0	0	1	0	9	112				
SOX5	6660	broad.mit.edu	37	12	23728637	23728637	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:23728637G>C	ENST00000451604.2	-	10	1401	c.1300C>G	c.(1300-1302)Cca>Gca	p.P434A	SOX5_ENST00000545921.1_Missense_Mutation_p.P424A|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000537393.1_Missense_Mutation_p.P399A|SOX5_ENST00000309359.1_Missense_Mutation_p.P421A|SOX5_ENST00000546136.1_Missense_Mutation_p.P421A|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000396007.2_Missense_Mutation_p.P48A			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	434					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AACGCTGCTGGGACAGAGGCT	0.483																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(1261-1263)Cca>Gca		SRY (sex determining region Y)-box 5							135.0	136.0	136.0					12																	23728637		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23728637G>C	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1300C>G	12.37:g.23728637G>C	ENSP00000398273:p.Pro434Ala					SOX5_ENST00000545921.1_Missense_Mutation_p.P424A|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000451604.2_Missense_Mutation_p.P434A|SOX5_ENST00000396007.2_Missense_Mutation_p.P48A|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000309359.1_Missense_Mutation_p.P421A|SOX5_ENST00000537393.1_Missense_Mutation_p.P399A	p.P421A			P35711	SOX5_HUMAN			9	1263	-			434					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.1261C>G	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071229	0.76301	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000396007;ENST00000545921	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.52	4.63	0.57726	.	0.053759	0.85682	D	0.000000	T	0.58352	0.2116	M	0.80422	2.495	0.80722	D	1	B;P;B	0.44090	0.243;0.826;0.073	B;P;B	0.46850	0.197;0.529;0.088	T	0.64058	-0.6496	10	0.52906	T	0.07	.	14.2486	0.66004	0.0718:0.0:0.9282:0.0	.	399;434;48	F5H0I3;P35711;P35711-3	.;SOX5_HUMAN;.	A	421;421;434;386;399;48;424	ENSP00000437487:P421A;ENSP00000308927:P421A;ENSP00000398273:P434A;ENSP00000439832:P399A;ENSP00000379328:P48A;ENSP00000443520:P424A	ENSP00000308927:P421A	P	-	1	0	SOX5	23619904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.851000	0.92205	1.334000	0.45468	0.591000	0.81541	CCA		0.483	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		30	770	0	0	0	1	0	30	770				
HYAL4	23553	broad.mit.edu	37	7	123508827	123508827	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:123508827C>G	ENST00000223026.4	+	3	1138	c.500C>G	c.(499-501)tCa>tGa	p.S167*	HYAL4_ENST00000476325.1_Nonsense_Mutation_p.S167*	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	167					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AGACAGAAGTCAAGAAAGCTT	0.408																																						ENST00000223026.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(499-501)tCa>tGa		hyaluronoglucosaminidase 4							68.0	72.0	71.0					7																	123508827		2203	4299	6502	SO:0001587	stop_gained	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123508827C>G	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.500C>G	7.37:g.123508827C>G	ENSP00000223026:p.Ser167*					HYAL4_ENST00000476325.1_Nonsense_Mutation_p.S167*	p.S167*	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN			3	1138	+			167					D0VXG1|Q9UL99|Q9Y6T9	Nonsense_Mutation	SNP	ENST00000223026.4	37	c.500C>G	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914650	0.33815	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	.	.	.	5.73	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.3562	11.6812	0.51458	0.0:0.8081:0.1241:0.0678	.	.	.	.	X	167	.	.	S	+	2	0	HYAL4	123296063	0.947000	0.32204	1.000000	0.80357	0.006000	0.05464	2.175000	0.42491	1.427000	0.47276	-0.136000	0.14681	TCA		0.408	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		113	496	0	0	0	1	0	113	496				
IYD	389434	broad.mit.edu	37	6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A	rs377381152		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433																																						ENST00000344419.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(607-609)Gca>Aca		iodotyrosine deiodinase		A	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	122.0	109.0	113.0		607,607,607	2.1	0.0	6		113	0,8600		0,0,4300	no	missense,missense,missense	IYD	NM_001164694.1,NM_001164695.1,NM_203395.2	58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	203/294,203/248,203/290	150715311	1,13005	2203	4300	6503	SO:0001583	missense	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150715311G>A	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.607G>A	6.37:g.150715311G>A	ENSP00000343763:p.Ala203Thr					IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T	p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	4	747	+		Ovarian(120;0.028)	203					C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	c.607G>A	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	g	5.689	0.311597	0.10789	2.27E-4	0.0	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.17	2.1	0.27182	Nitroreductase-like (3);	0.509560	0.22264	N	0.062376	T	0.43055	0.1230	L	0.46885	1.475	0.09310	N	1	B;B;B;B	0.20261	0.004;0.043;0.001;0.002	B;B;B;B	0.18561	0.003;0.022;0.001;0.005	T	0.24548	-1.0157	10	0.27785	T	0.31	-23.7178	1.2452	0.01971	0.2372:0.2256:0.3896:0.1475	.	121;203;203;203	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	T	203;203;203;203;203;148	ENSP00000229447:A203T;ENSP00000343763:A203T;ENSP00000376085:A203T;ENSP00000376084:A203T;ENSP00000441276:A203T;ENSP00000390081:A148T	ENSP00000229447:A203T	A	+	1	0	IYD	150757004	0.019000	0.18553	0.001000	0.08648	0.174000	0.22865	0.255000	0.18333	0.496000	0.27904	-0.119000	0.15052	GCA		0.433	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		5	473	0	0	0	1	0	5	473				
GDI2	2665	broad.mit.edu	37	10	5808002	5808002	+	Silent	SNP	C	C	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:5808002C>T	ENST00000380191.4	-	11	1595	c.1305G>A	c.(1303-1305)aaG>aaA	p.K435K	GDI2_ENST00000380132.4_Silent_p.K439K|GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380181.3_Silent_p.K390K	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	435					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TCTTCTTGCGCTTCATTTCCT	0.348																																						ENST00000380191.4																			0				NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						c.(1303-1305)aaG>aaA		GDP dissociation inhibitor 2							240.0	212.0	221.0					10																	5808002		2203	4300	6503	SO:0001819	synonymous_variant	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5808002C>T	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.1305G>A	10.37:g.5808002C>T						GDI2_ENST00000380132.4_Silent_p.K439K|GDI2_ENST00000380181.3_Silent_p.K390K|GDI2_ENST00000479928.1_5'UTR	p.K435K	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN			11	1595	-			435					O43928|Q5SX88|Q9UQM6	Silent	SNP	ENST00000380191.4	37	c.1305G>A	CCDS7071.1																																																																																				0.348	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		145	770	0	0	0	1	0	145	770				
ENPP7	339221	broad.mit.edu	37	17	77705082	77705082	+	Missense_Mutation	SNP	G	G	A	rs551732034		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr17:77705082G>A	ENST00000328313.5	+	1	402	c.181G>A	c.(181-183)Ggg>Agg	p.G61R		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)			GGCCCGAGACGGGGTGAAGGC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16426	0.001		0.0	False		,,,				2504	0.0					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.(181-183)Ggg>Agg		ectonucleotide pyrophosphatase/phosphodiesterase 7							59.0	50.0	53.0					17																	77705082		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.chr17:77705082G>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.181G>A	17.37:g.77705082G>A	ENSP00000332656:p.Gly61Arg						p.G61R	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		1	402	+			61						Missense_Mutation	SNP	ENST00000328313.5	37	c.181G>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895068	0.72639	.	.	ENSG00000182156	ENST00000328313	D	0.86366	-2.11	4.36	3.39	0.38822	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	H	0.96861	3.895	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	D	0.95700	0.8748	10	0.87932	D	0	-44.2888	12.2432	0.54555	0.0846:0.0:0.9154:0.0	.	61	Q6UWV6	ENPP7_HUMAN	R	61	ENSP00000332656:G61R	ENSP00000332656:G61R	G	+	1	0	ENPP7	75319677	1.000000	0.71417	0.720000	0.30636	0.696000	0.40369	5.370000	0.66144	1.038000	0.40049	0.561000	0.74099	GGG		0.647	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		4	224	0	0	0	1	0	4	224				
TXNRD1	7296	broad.mit.edu	37	12	104682725	104682725	+	Silent	SNP	G	G	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:104682725G>A	ENST00000525566.1	+	4	345	c.321G>A	c.(319-321)ctG>ctA	p.L107L	TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000540716.1_5'UTR|TXNRD1_ENST00000503506.2_5'UTR|TXNRD1_ENST00000429002.2_Silent_p.L107L|TXNRD1_ENST00000526691.1_Silent_p.L9L|TXNRD1_ENST00000397736.2_5'Flank|TXNRD1_ENST00000526390.1_5'UTR|TXNRD1_ENST00000529546.1_5'UTR|TXNRD1_ENST00000524698.1_5'UTR|TXNRD1_ENST00000378070.4_Silent_p.L56L|TXNRD1_ENST00000388854.3_Silent_p.L9L|TXNRD1_ENST00000542918.1_Silent_p.L7L	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	107	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	GTCGGGCCCTGGAAGGAACGC	0.612																																					Ovarian(139;555 1836 9186 9946 10884)	ENST00000526691.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.(25-27)ctG>ctA		thioredoxin reductase 1							101.0	106.0	104.0					12																	104682725		1900	4115	6015	SO:0001819	synonymous_variant	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104682725G>A		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000525566.1:c.321G>A	12.37:g.104682725G>A						TXNRD1_ENST00000524698.1_5'UTR|TXNRD1_ENST00000529546.1_5'UTR|TXNRD1_ENST00000525566.1_Silent_p.L107L|TXNRD1_ENST00000429002.2_Silent_p.L107L|TXNRD1_ENST00000503506.2_5'UTR|TXNRD1_ENST00000378070.4_Silent_p.L56L|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000542918.1_Silent_p.L7L|TXNRD1_ENST00000540716.1_5'UTR|TXNRD1_ENST00000388854.3_Silent_p.L9L|TXNRD1_ENST00000526390.1_5'UTR	p.L9L	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN			2	483	+			107					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Silent	SNP	ENST00000525566.1	37	c.27G>A	CCDS53820.1																																																																																				0.612	TXNRD1-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389960.1	NM_003330		121	633	0	0	0	1	0	121	633				
SCFD2	152579	broad.mit.edu	37	4	54231749	54231749	+	Silent	SNP	C	C	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:54231749C>T	ENST00000401642.3	-	1	493	c.360G>A	c.(358-360)gcG>gcA	p.A120A	SCFD2_ENST00000388940.4_Silent_p.A120A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	120	Poly-Ala.				protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CCGCTGCCGCCGCTGGGACAT	0.592																																						ENST00000401642.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(358-360)gcG>gcA		sec1 family domain containing 2							44.0	40.0	41.0					4																	54231749		2203	4300	6503	SO:0001819	synonymous_variant	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:54231749C>T	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.360G>A	4.37:g.54231749C>T						SCFD2_ENST00000388940.4_Silent_p.A120A	p.A120A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		1	493	-			120			Poly-Ala.		Q8N5F3|Q8N8H0|Q96ED3	Silent	SNP	ENST00000401642.3	37	c.360G>A	CCDS33984.1																																																																																				0.592	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		72	251	0	0	0	1	0	72	251				
TMEM26	219623	broad.mit.edu	37	10	63170199	63170199	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:63170199C>T	ENST00000399298.3	-	6	1356	c.988G>A	c.(988-990)Gca>Aca	p.A330T	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	330						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GAGGTCTGTGCCCGGCAACCA	0.597																																						ENST00000399298.3																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(988-990)Gca>Aca		transmembrane protein 26							76.0	82.0	80.0					10																	63170199		1976	4156	6132	SO:0001583	missense	219623					integral to membrane		g.chr10:63170199C>T	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.988G>A	10.37:g.63170199C>T	ENSP00000382237:p.Ala330Thr					TMEM26_ENST00000507507.1_5'UTR	p.A330T	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN			6	1356	-	Prostate(12;0.0112)		330					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.988G>A	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	C	6.317	0.426610	0.11987	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.65	-5.61	0.02489	.	1.601610	0.03470	N	0.213582	T	0.13329	0.0323	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.11792	-1.0573	9	0.12766	T	0.61	-14.2617	0.6012	0.00745	0.2555:0.2193:0.1483:0.377	.	330	Q6ZUK4	TMM26_HUMAN	T	330	.	ENSP00000382237:A330T	A	-	1	0	TMEM26	62840205	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.246000	0.02896	-0.759000	0.04684	-0.812000	0.03155	GCA		0.597	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		7	421	0	0	0	1	0	7	421				
HMHA1	23526	broad.mit.edu	37	19	1073261	1073261	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr19:1073261G>A	ENST00000313093.2	+	3	766	c.535G>A	c.(535-537)Gca>Aca	p.A179T	HMHA1_ENST00000590214.1_Missense_Mutation_p.A206T|HMHA1_ENST00000536472.1_Missense_Mutation_p.A19T|HMHA1_ENST00000539243.2_Missense_Mutation_p.A195T|HMHA1_ENST00000543365.1_Missense_Mutation_p.A62T|HMHA1_ENST00000592335.1_3'UTR|HMHA1_ENST00000586866.1_Missense_Mutation_p.A183T	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	179					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACGCTCACCGCAGCCGGCAC	0.637																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(535-537)Gca>Aca		histocompatibility (minor) HA-1							57.0	55.0	56.0					19																	1073261		2202	4300	6502	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1073261G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.535G>A	19.37:g.1073261G>A	ENSP00000316772:p.Ala179Thr					HMHA1_ENST00000536472.1_Missense_Mutation_p.A19T|HMHA1_ENST00000586866.1_Missense_Mutation_p.A183T|HMHA1_ENST00000539243.2_Missense_Mutation_p.A195T|HMHA1_ENST00000592335.1_3'UTR|HMHA1_ENST00000590214.1_Missense_Mutation_p.A206T|HMHA1_ENST00000543365.1_Missense_Mutation_p.A62T	p.A179T	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	766	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	179					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.535G>A	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594634	0.86953	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.36520	1.46;1.46;1.34;1.25	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.58864	0.2152	M	0.72894	2.215	0.54753	D	0.999988	D;D;D;D	0.89917	1.0;0.996;1.0;0.995	D;P;D;P	0.91635	0.999;0.777;0.998;0.679	T	0.64206	-0.6462	10	0.62326	D	0.03	-15.814	15.0034	0.71492	0.0:0.0:1.0:0.0	.	19;195;62;179	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	T	195;179;179;19;173;62	ENSP00000439601:A195T;ENSP00000316772:A179T;ENSP00000445109:A19T;ENSP00000438979:A62T	ENSP00000316772:A179T	A	+	1	0	HMHA1	1024261	1.000000	0.71417	0.031000	0.17742	0.723000	0.41478	9.148000	0.94652	1.855000	0.53841	0.491000	0.48974	GCA		0.637	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			6	579	0	0	0	1	0	6	579				
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1				BMS1 pseudogene 20																		ATAAAGTATATGATTTTGTGT	0.348													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		19780	0.0		0.0	False		,,,				2504	0.0					ENST00000426066.1																			0																																																			0							g.chr22:22664056T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664056T>C								NR_027293.1						0	623	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.348	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			8	297	0	0	0	1	0	8	297				
DCHS2	54798	broad.mit.edu	37	4	155176731	155176731	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:155176731G>A	ENST00000357232.4	-	21	5515	c.5516C>T	c.(5515-5517)gCa>gTa	p.A1839V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1839	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACCACTCAGTGCATCAATCTG	0.458																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(5515-5517)gCa>gTa		dachsous cadherin-related 2							152.0	137.0	142.0					4																	155176731		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155176731G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5516C>T	4.37:g.155176731G>A	ENSP00000349768:p.Ala1839Val						p.A1839V	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	21	5515	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1839			Cadherin 16.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.5516C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677861	0.47886	.	.	ENSG00000197410	ENST00000357232	T	0.52983	0.64	5.19	3.41	0.39046	Cadherin (4);Cadherin-like (1);	0.630001	0.14870	N	0.293609	T	0.46964	0.1420	L	0.53249	1.67	0.33806	D	0.627257	P	0.49696	0.927	P	0.49140	0.601	T	0.52366	-0.8585	10	0.16420	T	0.52	.	9.1579	0.37005	0.0788:0.0:0.771:0.1502	.	1839	Q6V1P9	PCD23_HUMAN	V	1839	ENSP00000349768:A1839V	ENSP00000349768:A1839V	A	-	2	0	DCHS2	155396181	0.135000	0.22499	0.000000	0.03702	0.027000	0.11550	2.878000	0.48515	0.650000	0.30769	0.650000	0.86243	GCA		0.458	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		46	197	0	0	0	1	0	46	197				
RAB6B	51560	broad.mit.edu	37	3	133560230	133560230	+	Missense_Mutation	SNP	C	C	G			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:133560230C>G	ENST00000285208.4	-	4	537	c.188G>C	c.(187-189)cGa>cCa	p.R63P	RAB6B_ENST00000543906.1_Missense_Mutation_p.R63P|RAB6B_ENST00000486858.1_Missense_Mutation_p.R50P|RAB6B_ENST00000469959.1_Intron	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	63					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						GAGCTGCAGTCGCACCTGTCT	0.647																																						ENST00000285208.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						c.(187-189)cGa>cCa		RAB6B, member RAS oncogene family							83.0	72.0	75.0					3																	133560230		2203	4300	6503	SO:0001583	missense	51560				protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding	g.chr3:133560230C>G	AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"""RAB, member RAS oncogene"""	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.188G>C	3.37:g.133560230C>G	ENSP00000285208:p.Arg63Pro					RAB6B_ENST00000543906.1_Missense_Mutation_p.R63P|RAB6B_ENST00000486858.1_Missense_Mutation_p.R50P|RAB6B_ENST00000469959.1_Intron	p.R63P	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN			4	537	-			63					B2R5Z9|B7Z337|D3DND3|Q92929	Missense_Mutation	SNP	ENST00000285208.4	37	c.188G>C	CCDS3082.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326902	0.81690	.	.	ENSG00000154917	ENST00000285208;ENST00000543906;ENST00000486858;ENST00000477759;ENST00000460865;ENST00000488969	T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	4.7	4.7	0.59300	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87168	0.6110	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.81914	0.992;0.995	D	0.88909	0.3358	10	0.87932	D	0	-11.9051	16.7699	0.85534	0.0:1.0:0.0:0.0	.	50;63	B7Z337;Q9NRW1	.;RAB6B_HUMAN	P	63;63;50;30;9;30	ENSP00000285208:R63P;ENSP00000437797:R63P;ENSP00000419381:R50P;ENSP00000419941:R30P;ENSP00000419526:R9P;ENSP00000417433:R30P	ENSP00000285208:R63P	R	-	2	0	RAB6B	135042920	1.000000	0.71417	0.998000	0.56505	0.776000	0.43924	7.138000	0.77305	2.303000	0.77524	0.462000	0.41574	CGA		0.647	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1			69	353	0	0	0	1	0	69	353				
KIAA0226L	80183	broad.mit.edu	37	13	46952072	46952072	+	5'UTR	SNP	T	T	C			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr13:46952072T>C	ENST00000429979.1	-	0	435				KIAA0226L_ENST00000389908.3_Intron|KIAA0226L_ENST00000378781.3_5'UTR|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.Y6C|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.Y6C|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.Y6C|KIAA0226L_ENST00000378787.3_Intron|KIAA0226L_ENST00000378797.2_5'UTR|KIAA0226L_ENST00000480935.1_Intron|KIAA0226L_ENST00000534925.1_Intron	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like											NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GAGGAGAAAGTAATGATTGGA	0.438																																						ENST00000409879.2																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(16-18)tAc>tGc		KIAA0226-like							34.0	31.0	32.0					13																	46952072		876	1990	2866	SO:0001623	5_prime_UTR_variant	80183							g.chr13:46952072T>C	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.-170A>G	13.37:g.46952072T>C						KIAA0226L_ENST00000378797.2_5'UTR|KIAA0226L_ENST00000378787.3_Intron|KIAA0226L_ENST00000429979.1_5'UTR|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.Y6C|KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.Y6C|KIAA0226L_ENST00000480935.1_Intron|KIAA0226L_ENST00000389908.3_Intron|KIAA0226L_ENST00000378781.3_5'UTR	p.Y6C			Q9H714	CM018_HUMAN			3	1077	-			0					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.17A>G	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	T	7.904	0.735131	0.15574	.	.	ENSG00000102445	ENST00000378784;ENST00000409879;ENST00000322896	T	0.47869	0.83	2.89	-0.0481	0.13840	.	.	.	.	.	T	0.31389	0.0795	.	.	.	0.21220	N	0.999758	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.29792	-1.0000	8	0.87932	D	0	.	2.9756	0.05936	0.0:0.4601:0.2377:0.3022	.	6;6;6	B7ZBN5;B7Z6E4;Q9H714-3	.;.;.	C	6	ENSP00000368061:Y6C	ENSP00000315633:Y6C	Y	-	2	0	KIAA0226L	45850073	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	-1.295000	0.02764	-0.047000	0.13423	-0.462000	0.05337	TAC		0.438	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		12	87	0	0	0	1	0	12	87				
TMEM87A	25963	broad.mit.edu	37	15	42520944	42520944	+	Silent	SNP	C	C	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr15:42520944C>T	ENST00000389834.4	-	13	1470	c.1206G>A	c.(1204-1206)cgG>cgA	p.R402R	RP11-546B15.1_ENST00000563846.1_RNA|TMEM87A_ENST00000448392.1_Silent_p.R341R	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	402						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TGGTGAAATGCCGATACAAAG	0.383																																						ENST00000389834.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1204-1206)cgG>cgA		transmembrane protein 87A							126.0	119.0	121.0					15																	42520944		2203	4299	6502	SO:0001819	synonymous_variant	25963					integral to membrane		g.chr15:42520944C>T	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.1206G>A	15.37:g.42520944C>T						TMEM87A_ENST00000448392.1_Silent_p.R341R	p.R402R	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN		GBM - Glioblastoma multiforme(94;1.03e-06)	13	1470	-		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	402					Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Silent	SNP	ENST00000389834.4	37	c.1206G>A	CCDS32205.1																																																																																				0.383	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		6	519	0	0	0	1	0	6	519				
ECEL1	9427	broad.mit.edu	37	2	233351013	233351013	+	Silent	SNP	G	G	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:233351013G>A	ENST00000304546.1	-	2	561	c.351C>T	c.(349-351)gaC>gaT	p.D117D	ECEL1_ENST00000409941.1_Silent_p.D117D	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	117					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CGATGCTGGCGTCCAGGTTGG	0.726																																						ENST00000304546.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(349-351)gaC>gaT		endothelin converting enzyme-like 1							10.0	13.0	12.0					2																	233351013		2183	4288	6471	SO:0001819	synonymous_variant	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233351013G>A	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.351C>T	2.37:g.233351013G>A						ECEL1_ENST00000409941.1_Silent_p.D117D	p.D117D	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	2	561	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	117					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Silent	SNP	ENST00000304546.1	37	c.351C>T	CCDS2493.1																																																																																				0.726	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		13	70	0	0	0	1	0	13	70				
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C	rs199967915	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818									DNM1 pseudogene 47																		CACAGCGGCGTGACGAGACTC	0.587																																						ENST00000561463.1																			0																																																			0							g.chr15:102304772T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304772T>C														0	12818	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		10	94	0	0	0	1	0	10	94				
SORT1	6272	broad.mit.edu	37	1	109865648	109865648	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:109865648G>A	ENST00000256637.6	-	15	1988	c.1930C>T	c.(1930-1932)Cgg>Tgg	p.R644W	SORT1_ENST00000538502.1_Missense_Mutation_p.R507W	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	644	Interactions with LRPAP1 and NGFB.				endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TTGCGTAGCCGCAGAAACTGT	0.488																																						ENST00000256637.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1930-1932)Cgg>Tgg		sortilin 1							141.0	134.0	136.0					1																	109865648		2203	4300	6503	SO:0001583	missense	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109865648G>A	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1930C>T	1.37:g.109865648G>A	ENSP00000256637:p.Arg644Trp					SORT1_ENST00000538502.1_Missense_Mutation_p.R507W	p.R644W	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	15	1988	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	644			Interactions with LRPAP1 and NGFB.		B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	c.1930C>T	CCDS798.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317671	0.81469	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.46819	0.86;0.86	5.64	3.73	0.42828	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70353	-0.4895	10	0.87932	D	0	-17.4155	13.9284	0.63978	0.0:0.0:0.7226:0.2774	.	507;644	B4DWI3;Q99523	.;SORT_HUMAN	W	644;507	ENSP00000256637:R644W;ENSP00000438597:R507W	ENSP00000256637:R644W	R	-	1	2	SORT1	109667171	1.000000	0.71417	0.697000	0.30258	0.965000	0.64279	6.008000	0.70739	0.713000	0.32060	-0.268000	0.10319	CGG		0.488	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		5	426	0	0	0	1	0	5	426				
GOLGA2P9	440518	broad.mit.edu	37	19	22780172	22780172	+	RNA	SNP	C	C	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr19:22780172C>A	ENST00000600260.1	+	0	250					NR_033899.1																						CCGAGACAACCACTTCTGGTG	0.507																																						ENST00000600260.1																			0																																																			0							g.chr19:22780172C>A																													19.37:g.22780172C>A								NR_033899.1						0	250	+									RNA	SNP	ENST00000600260.1	37																																																																																						0.507	CTC-457E21.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464572.1			83	300	1	0	2.13431e-38	1	2.2677e-38	83	300				
TNPO3	23534	broad.mit.edu	37	7	128658021	128658021	+	Missense_Mutation	SNP	A	A	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:128658021A>T	ENST00000265388.5	-	2	454	c.311T>A	c.(310-312)aTt>aAt	p.I104N	TNPO3_ENST00000393245.1_Missense_Mutation_p.I104N|TNPO3_ENST00000471166.1_Missense_Mutation_p.I104N|TNPO3_ENST00000471234.1_Missense_Mutation_p.I104N|TNPO3_ENST00000482320.1_Missense_Mutation_p.I38N			Q9Y5L0	TNPO3_HUMAN	transportin 3	104					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CTGCGTTACAATAACAGGTGA	0.408																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(310-312)aTt>aAt		transportin 3							132.0	123.0	126.0					7																	128658021		2203	4300	6503	SO:0001583	missense	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128658021A>T	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.311T>A	7.37:g.128658021A>T	ENSP00000265388:p.Ile104Asn					TNPO3_ENST00000265388.5_Missense_Mutation_p.I104N|TNPO3_ENST00000471166.1_Missense_Mutation_p.I104N|TNPO3_ENST00000471234.1_Missense_Mutation_p.I104N|TNPO3_ENST00000482320.1_Missense_Mutation_p.I38N	p.I104N	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN			2	684	-			104					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	37	c.311T>A	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.215724	0.79352	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	5.92	4.78	0.61160	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83445	0.5256	M	0.84219	2.685	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.987;0.999;0.996	D	0.84571	0.0655	10	0.87932	D	0	.	10.0496	0.42208	0.9211:0.0:0.0789:0.0	.	104;104;104	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	N	104;104;38;104;104	ENSP00000376936:I104N;ENSP00000265388:I104N;ENSP00000420089:I38N;ENSP00000418646:I104N;ENSP00000418267:I104N	ENSP00000265388:I104N	I	-	2	0	TNPO3	128445257	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.253000	0.95501	1.079000	0.41038	0.533000	0.62120	ATT		0.408	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		64	303	0	0	0	1	0	64	303				
MPZL1	9019	broad.mit.edu	37	1	167734835	167734835	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:167734835C>T	ENST00000359523.2	+	2	309	c.107C>T	c.(106-108)tCa>tTa	p.S36L	MPZL1_ENST00000392121.3_Missense_Mutation_p.S36L|MPZL1_ENST00000474859.1_Missense_Mutation_p.S36L	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	36	Ig-like V-type.				cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					GCTGGAGTATCAGCCTTGGAA	0.433																																						ENST00000359523.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15						c.(106-108)tCa>tTa		myelin protein zero-like 1							78.0	73.0	75.0					1																	167734835		2203	4300	6503	SO:0001583	missense	9019				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity	g.chr1:167734835C>T	AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"""Immunoglobulin superfamily / V-set domain containing"""	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.107C>T	1.37:g.167734835C>T	ENSP00000352513:p.Ser36Leu					MPZL1_ENST00000392121.3_Missense_Mutation_p.S36L|MPZL1_ENST00000474859.1_Missense_Mutation_p.S36L	p.S36L	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN			2	309	+	all_hematologic(923;0.215)		36			Ig-like V-type.		B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Missense_Mutation	SNP	ENST00000359523.2	37	c.107C>T	CCDS1264.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093876	0.76870	.	.	ENSG00000197965	ENST00000359523;ENST00000392121;ENST00000474859;ENST00000367853	T;T;T;D	0.97529	-1.41;-1.41;-1.41;-4.42	4.79	2.9	0.33743	Immunoglobulin-like (1);	0.487731	0.21597	N	0.072020	D	0.83815	0.5336	N	0.15975	0.35	0.49299	D	0.999778	B;B;B	0.33448	0.099;0.412;0.022	B;B;B	0.29598	0.041;0.104;0.011	T	0.79509	-0.1774	9	0.08179	T	0.78	.	10.8419	0.46720	0.0:0.8429:0.0:0.1571	.	36;36;36	B2REC0;O95297-3;O95297	.;.;MPZL1_HUMAN	L	36;36;36;10	ENSP00000352513:S36L;ENSP00000375968:S36L;ENSP00000420455:S36L;ENSP00000356827:S10L	ENSP00000352513:S36L	S	+	2	0	MPZL1	166001459	0.839000	0.29477	0.191000	0.23289	0.786000	0.44442	2.816000	0.48026	1.341000	0.45600	0.655000	0.94253	TCA		0.433	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083655.2	NM_024569		63	276	0	0	0	1	0	63	276				
NEURL4	84461	broad.mit.edu	37	17	7227181	7227181	+	Missense_Mutation	SNP	C	C	A	rs201553991		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr17:7227181C>A	ENST00000399464.2	-	12	2228	c.2213G>T	c.(2212-2214)cGc>cTc	p.R738L	NEURL4_ENST00000570460.1_Missense_Mutation_p.R716L|NEURL4_ENST00000315614.7_Missense_Mutation_p.R738L	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	738	NHR 4. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACAGTTGTGGCGGAGGGCGGT	0.622											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2212-2214)cGc>cTc		neuralized E3 ubiquitin protein ligase 4							75.0	85.0	82.0					17																	7227181		2095	4212	6307	SO:0001583	missense	84461							g.chr17:7227181C>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2213G>T	17.37:g.7227181C>A	ENSP00000382390:p.Arg738Leu		OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	NEURL4_ENST00000315614.7_Missense_Mutation_p.R738L|NEURL4_ENST00000570460.1_Missense_Mutation_p.R716L	p.R738L	NM_032442.2	NP_115818.2					12	2228	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.2213G>T	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	32	5.188290	0.94923	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.73258	1.09;-0.73	5.54	5.54	0.83059	NEUZ (3);	0.000000	0.85682	D	0.000000	D	0.86260	0.5890	M	0.85542	2.76	0.58432	D	0.999991	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.88077	0.2804	10	0.87932	D	0	-18.6503	18.2515	0.90005	0.0:1.0:0.0:0.0	.	738;738	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	L	738	ENSP00000319826:R738L;ENSP00000382390:R738L	ENSP00000319826:R738L	R	-	2	0	NEURL4	7167905	1.000000	0.71417	0.994000	0.49952	0.948000	0.59901	7.319000	0.79040	2.606000	0.88127	0.655000	0.94253	CGC		0.622	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		92	654	1	0	5.5301e-39	1	5.91682e-39	92	654				
NFIC	4782	broad.mit.edu	37	19	3449068	3449068	+	Missense_Mutation	SNP	T	T	C			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr19:3449068T>C	ENST00000443272.2	+	7	1066	c.1015T>C	c.(1015-1017)Tcc>Ccc	p.S339P	NFIC_ENST00000341919.3_Missense_Mutation_p.S339P|NFIC_ENST00000586919.1_Missense_Mutation_p.S306P|NFIC_ENST00000589123.1_Missense_Mutation_p.S330P|NFIC_ENST00000346156.5_Missense_Mutation_p.S306P|NFIC_ENST00000395111.3_Missense_Mutation_p.S330P|NFIC_ENST00000590282.1_Missense_Mutation_p.S339P	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	339					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CAACAGCCCGTCCCCCCAGGA	0.667																																						ENST00000589123.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(988-990)Tcc>Ccc		nuclear factor I/C (CCAAT-binding transcription factor)							98.0	72.0	81.0					19																	3449068		2203	4300	6503	SO:0001583	missense	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3449068T>C	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.1015T>C	19.37:g.3449068T>C	ENSP00000396843:p.Ser339Pro					NFIC_ENST00000346156.5_Missense_Mutation_p.S306P|NFIC_ENST00000341919.3_Missense_Mutation_p.S339P|NFIC_ENST00000590282.1_Missense_Mutation_p.S339P|NFIC_ENST00000586919.1_Missense_Mutation_p.S306P|NFIC_ENST00000395111.3_Missense_Mutation_p.S330P|NFIC_ENST00000443272.2_Missense_Mutation_p.S339P	p.S330P	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	7	1108	+		Hepatocellular(1079;0.137)	339					A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	37	c.988T>C	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.506759	0.64410	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.55234	0.53;0.53;0.53	3.96	3.96	0.45880	.	0.072508	0.56097	D	0.000026	T	0.63943	0.2554	L	0.51422	1.61	0.42717	D	0.99366	P;D;P;D;P	0.69078	0.761;0.995;0.718;0.997;0.879	P;D;B;D;P	0.71414	0.478;0.943;0.426;0.973;0.662	T	0.66110	-0.6005	10	0.56958	D	0.05	-8.8863	11.6991	0.51560	0.0:0.0:0.0:1.0	.	339;339;330;339;330	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	P	330;330;306;339;339;339	ENSP00000378543:S330P;ENSP00000301935:S306P;ENSP00000342194:S339P	ENSP00000269778:S339P	S	+	1	0	NFIC	3400068	1.000000	0.71417	0.985000	0.45067	0.983000	0.72400	5.412000	0.66392	1.441000	0.47550	0.459000	0.35465	TCC		0.667	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		11	252	0	0	0	1	0	11	252				
THSD7B	80731	broad.mit.edu	37	2	138169334	138169334	+	Missense_Mutation	SNP	C	C	T	rs564630499		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:138169334C>T	ENST00000409968.1	+	14	3029	c.2851C>T	c.(2851-2853)Cgg>Tgg	p.R951W	THSD7B_ENST00000272643.3_Missense_Mutation_p.R951W|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.R920W			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	951	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCGAGGACTGCGGGTACAAGC	0.488													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18020	0.0		0.0	False		,,,				2504	0.0					ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(2851-2853)Cgg>Tgg		thrombospondin, type I, domain containing 7B							114.0	113.0	113.0					2																	138169334		1955	4140	6095	SO:0001583	missense	80731							g.chr2:138169334C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2851C>T	2.37:g.138169334C>T	ENSP00000387145:p.Arg951Trp					THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.R920W|THSD7B_ENST00000272643.3_Missense_Mutation_p.R951W	p.R951W						BRCA - Breast invasive adenocarcinoma(221;0.19)	14	3029	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.2851C>T		.	.	.	.	.	.	.	.	.	.	C	7.438	0.640150	0.14386	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.23754	2.42;2.28;1.89	5.62	-2.52	0.06346	.	0.773311	0.12237	N	0.486935	T	0.16214	0.0390	L	0.38531	1.155	0.19300	N	0.99998	B;B	0.13145	0.007;0.007	B;B	0.06405	0.002;0.002	T	0.22556	-1.0213	10	0.49607	T	0.09	.	6.1826	0.20480	0.1751:0.3831:0.0:0.4418	.	951;920	Q9C0I4;C9JKN6	THS7B_HUMAN;.	W	951;951;920	ENSP00000387145:R951W;ENSP00000272643:R951W;ENSP00000413841:R920W	ENSP00000272643:R951W	R	+	1	2	THSD7B	137885804	0.000000	0.05858	0.001000	0.08648	0.393000	0.30537	-0.033000	0.12246	-0.145000	0.11294	-0.259000	0.10710	CGG		0.488	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		7	666	0	0	0	1	0	7	666				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		17	331	0	0	0	1	0	17	331				
DISP2	85455	broad.mit.edu	37	15	40662363	40662363	+	Missense_Mutation	SNP	C	C	G			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr15:40662363C>G	ENST00000267889.3	+	8	4137	c.4050C>G	c.(4048-4050)gaC>gaG	p.D1350E	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1350					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		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;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CAGTGTATGACCCATCATTGC	0.637																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(4048-4050)gaC>gaG		dispatched homolog 2 (Drosophila)							99.0	101.0	100.0					15																	40662363		2203	4300	6503	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40662363C>G	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.4050C>G	15.37:g.40662363C>G	ENSP00000267889:p.Asp1350Glu						p.D1350E	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	4137	+		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)	1350					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.4050C>G	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264877	0.23136	.	.	ENSG00000140323	ENST00000267889	T	0.11604	2.76	5.0	-2.49	0.06403	.	0.055305	0.64402	D	0.000002	T	0.06554	0.0168	N	0.20986	0.625	0.22903	N	0.998586	P	0.46784	0.884	B	0.39152	0.292	T	0.23547	-1.0185	10	0.48119	T	0.1	-30.0653	12.9728	0.58522	0.0:0.2648:0.0:0.7352	.	1350	A7MBM2	DISP2_HUMAN	E	1350	ENSP00000267889:D1350E	ENSP00000267889:D1350E	D	+	3	2	DISP2	38449655	0.001000	0.12720	0.122000	0.21767	0.750000	0.42670	-0.103000	0.10940	-0.732000	0.04856	-0.254000	0.11334	GAC		0.637	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		45	765	0	0	0	1	0	45	765				
AP1B1	162	broad.mit.edu	37	22	29727462	29727462	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr22:29727462G>C	ENST00000405198.1	-	18	2531	c.2500C>G	c.(2500-2502)Ctc>Gtc	p.L834V	AP1B1_ENST00000356015.2_Missense_Mutation_p.L827V|SNORD125_ENST00000459538.1_RNA|AP1B1_ENST00000317368.7_Missense_Mutation_p.L807V|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000415447.1_Missense_Mutation_p.L827V|AP1B1_ENST00000402502.1_Missense_Mutation_p.L827V|AP1B1_ENST00000357586.2_Missense_Mutation_p.L834V|AP1B1_ENST00000432560.2_Missense_Mutation_p.L827V			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	834					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCCACAAAGAGGATGTGCAGT	0.577																																						ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(2500-2502)Ctc>Gtc		adaptor-related protein complex 1, beta 1 subunit							201.0	191.0	194.0					22																	29727462		2203	4300	6503	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29727462G>C	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2500C>G	22.37:g.29727462G>C	ENSP00000384194:p.Leu834Val					AP1B1_ENST00000432560.2_Missense_Mutation_p.L827V|AP1B1_ENST00000356015.2_Missense_Mutation_p.L827V|AP1B1_ENST00000415447.1_Missense_Mutation_p.L827V|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000317368.7_Missense_Mutation_p.L807V|AP1B1_ENST00000405198.1_Missense_Mutation_p.L834V|AP1B1_ENST00000402502.1_Missense_Mutation_p.L827V	p.L834V	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			19	2686	-			834					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.2500C>G	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	G	7.916	0.737456	0.15574	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447	T;T;T;T;T;T;T	0.26957	1.7;1.7;1.71;1.7;1.74;1.71;1.71	4.51	3.45	0.39498	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.060279	0.64402	N	0.000002	T	0.42426	0.1202	M	0.62088	1.915	0.80722	D	1	P;B;B;B;P;P	0.51351	0.858;0.294;0.294;0.194;0.47;0.944	B;B;B;B;B;P	0.60173	0.432;0.313;0.313;0.079;0.293;0.87	T	0.20806	-1.0264	10	0.30854	T	0.27	-14.8874	13.9467	0.64089	0.0:0.1536:0.8464:0.0	.	387;807;827;834;827;31	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3;Q7Z3M8	.;.;.;AP1B1_HUMAN;.;.	V	834;827;827;834;807;827;827	ENSP00000350199:L834V;ENSP00000348297:L827V;ENSP00000400065:L827V;ENSP00000384194:L834V;ENSP00000319361:L807V;ENSP00000386071:L827V;ENSP00000387612:L827V	ENSP00000319361:L807V	L	-	1	0	AP1B1	28057462	1.000000	0.71417	0.998000	0.56505	0.010000	0.07245	4.615000	0.61190	1.047000	0.40274	0.557000	0.71058	CTC		0.577	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		215	1127	0	0	0	1	0	215	1127				
CLEC1B	51266	broad.mit.edu	37	12	10145836	10145836	+	Missense_Mutation	SNP	T	T	C			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:10145836T>C	ENST00000298527.6	-	6	775	c.596A>G	c.(595-597)cAt>cGt	p.H199R	CLEC1B_ENST00000428126.2_Missense_Mutation_p.H166R|CLEC1B_ENST00000348658.4_Missense_Mutation_p.H166R	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	199	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TTTCCCATTATGAAAATAAGC	0.368																																						ENST00000428126.2																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						c.(496-498)cAt>cGt		C-type lectin domain family 1, member B							139.0	126.0	130.0					12																	10145836		1852	4090	5942	SO:0001583	missense	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10145836T>C	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.596A>G	12.37:g.10145836T>C	ENSP00000298527:p.His199Arg					CLEC1B_ENST00000298527.6_Missense_Mutation_p.H199R|CLEC1B_ENST00000348658.4_Missense_Mutation_p.H166R	p.H166R			Q9P126	CLC1B_HUMAN			7	766	-			199			C-type lectin.		Q6UWX7|Q8NHR6	Missense_Mutation	SNP	ENST00000298527.6	37	c.497A>G	CCDS41752.1	.	.	.	.	.	.	.	.	.	.	T	11.19	1.566783	0.28003	.	.	ENSG00000165682	ENST00000428126;ENST00000298527;ENST00000348658;ENST00000398939	T;T;T	0.17854	2.25;2.25;2.25	4.47	0.492	0.16872	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.252357	0.27856	N	0.017568	T	0.12305	0.0299	L	0.59912	1.85	0.27544	N	0.950708	B;B	0.12013	0.004;0.005	B;B	0.21546	0.035;0.014	T	0.23691	-1.0181	10	0.13470	T	0.59	.	2.8078	0.05432	0.1887:0.2176:0.0:0.5937	.	166;199	Q9P126-2;Q9P126	.;CLC1B_HUMAN	R	166;199;166;108	ENSP00000406338:H166R;ENSP00000298527:H199R;ENSP00000327169:H166R	ENSP00000298527:H199R	H	-	2	0	CLEC1B	10037103	0.979000	0.34478	0.999000	0.59377	0.930000	0.56654	0.458000	0.21892	0.552000	0.29026	0.402000	0.26972	CAT		0.368	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509		137	671	0	0	0	1	0	137	671				
PKD1	5310	broad.mit.edu	37	16	2159313	2159313	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr16:2159313C>T	ENST00000262304.4	-	15	6063	c.5855G>A	c.(5854-5856)gGc>gAc	p.G1952D	PKD1_ENST00000423118.1_Missense_Mutation_p.G1952D|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1952	PKD 15. {ECO:0000255|PROSITE- ProRule:PRU00151}.		G -> D. {ECO:0000269|PubMed:18837007}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTGGTTTTTGCCCCGCACGCT	0.711																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(5854-5856)gGc>gAc		polycystic kidney disease 1 (autosomal dominant)							13.0	15.0	14.0					16																	2159313		2127	4181	6308	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2159313C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.5855G>A	16.37:g.2159313C>T	ENSP00000262304:p.Gly1952Asp					PKD1_ENST00000423118.1_Missense_Mutation_p.G1952D	p.G1952D	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	6063	-			1952		G -> D.	PKD 15.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.5855G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	10.49	1.365639	0.24684	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000382481	T;T	0.60920	0.15;0.15	5.33	4.37	0.52481	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (2);	0.116289	0.56097	D	0.000025	T	0.46560	0.1399	N	0.08118	0	0.26323	N	0.977647	P;P	0.43885	0.82;0.757	B;P	0.50617	0.351;0.646	T	0.42361	-0.9456	10	0.87932	D	0	.	9.8871	0.41268	0.0824:0.1474:0.7702:0.0	.	1952;1952	P98161-3;P98161	.;PKD1_HUMAN	D	1952;1952;231	ENSP00000262304:G1952D;ENSP00000399501:G1952D	ENSP00000262304:G1952D	G	-	2	0	PKD1	2099314	0.997000	0.39634	0.967000	0.41034	0.004000	0.04260	2.853000	0.48317	1.252000	0.44001	-0.341000	0.08007	GGC		0.711	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	218	0	0	0	1	0	4	218				
KIF26B	55083	broad.mit.edu	37	1	245850589	245850589	+	Missense_Mutation	SNP	T	T	A	rs574497869		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:245850589T>A	ENST00000407071.2	+	12	4744	c.4304T>A	c.(4303-4305)aTg>aAg	p.M1435K	KIF26B_ENST00000366518.4_Missense_Mutation_p.M1054K	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1435					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AAGAAAGAGATGAAATTTGAG	0.552													T|||	1	0.000199681	0.0	0.0	5008	,	,		17171	0.001		0.0	False		,,,				2504	0.0					ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(3160-3162)aTg>aAg		kinesin family member 26B							17.0	20.0	19.0					1																	245850589		1923	4129	6052	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245850589T>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4304T>A	1.37:g.245850589T>A	ENSP00000385545:p.Met1435Lys					KIF26B_ENST00000407071.2_Missense_Mutation_p.M1435K	p.M1054K			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	3265	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1435					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.3161T>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.440804	0.25900	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.77620	-1.11;-1.1	5.4	5.4	0.78164	.	.	.	.	.	T	0.71796	0.3382	L	0.54323	1.7	0.37366	D	0.91143	P;B	0.34909	0.475;0.337	B;B	0.26770	0.073;0.031	T	0.76132	-0.3071	9	0.42905	T	0.14	.	15.7173	0.77677	0.0:0.0:0.0:1.0	.	1054;1435	B7WPD9;Q2KJY2	.;KI26B_HUMAN	K	1435;1054;1051	ENSP00000385545:M1435K;ENSP00000355475:M1054K	ENSP00000355475:M1054K	M	+	2	0	KIF26B	243917212	0.995000	0.38212	1.000000	0.80357	0.055000	0.15305	2.252000	0.43196	2.168000	0.68352	0.459000	0.35465	ATG		0.552	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		19	70	0	0	0	1	0	19	70				
BAIAP2L2	80115	broad.mit.edu	37	22	38484914	38484914	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr22:38484914G>A	ENST00000381669.3	-	10	1103	c.959C>T	c.(958-960)cCg>cTg	p.P320L	CTA-228A9.3_ENST00000609162.1_lincRNA	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	320					filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					gccgccgcccgggcgcTCGCC	0.726																																						ENST00000381669.3																			0				large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8						c.(958-960)cCg>cTg		BAI1-associated protein 2-like 2							4.0	5.0	5.0					22																	38484914		1681	3642	5323	SO:0001583	missense	80115				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding	g.chr22:38484914G>A	BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.959C>T	22.37:g.38484914G>A	ENSP00000371085:p.Pro320Leu						p.P320L	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN			10	1103	-	Melanoma(58;0.045)		320					B0QYE2|Q96BG7	Missense_Mutation	SNP	ENST00000381669.3	37	c.959C>T	CCDS43018.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946115	0.53079	.	.	ENSG00000128298	ENST00000381669;ENST00000402500;ENST00000428572	T	0.42900	0.96	3.73	0.0867	0.14447	Src homology-3 domain (1);	1.088490	0.06950	N	0.814411	T	0.23330	0.0564	N	0.22421	0.69	0.18873	N	0.999982	B	0.09022	0.002	B	0.04013	0.001	T	0.24225	-1.0166	10	0.23891	T	0.37	-25.1177	1.3183	0.02112	0.1253:0.2933:0.3008:0.2805	.	320	Q6UXY1	BI2L2_HUMAN	L	320;320;11	ENSP00000410074:P11L	ENSP00000371085:P320L	P	-	2	0	BAIAP2L2	36814860	0.377000	0.25106	0.997000	0.53966	0.755000	0.42902	-0.337000	0.07852	0.642000	0.30620	0.462000	0.41574	CCG		0.726	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045		3	63	0	0	0	1	0	3	63				
CD5	921	broad.mit.edu	37	11	60892527	60892527	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr11:60892527G>A	ENST00000347785.3	+	9	1469	c.1303G>A	c.(1303-1305)Gca>Aca	p.A435T		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	435					apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CAACCACACGGCAACCGTCCG	0.567																																						ENST00000347785.3																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1303-1305)Gca>Aca		CD5 molecule							209.0	139.0	162.0					11																	60892527		2203	4299	6502	SO:0001583	missense	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60892527G>A	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.1303G>A	11.37:g.60892527G>A	ENSP00000342681:p.Ala435Thr						p.A435T	NM_014207.3	NP_055022.2	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	9	1469	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	435					A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	c.1303G>A	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	G	7.336	0.619999	0.14193	.	.	ENSG00000110448	ENST00000347785	T	0.30981	1.51	4.25	3.34	0.38264	.	0.657382	0.14022	N	0.346708	T	0.19046	0.0457	N	0.19112	0.55	0.20821	N	0.999844	B	0.06786	0.001	B	0.04013	0.001	T	0.14504	-1.0470	10	0.41790	T	0.15	-9.3097	8.1369	0.31061	0.1115:0.0:0.8885:0.0	.	435	P06127	CD5_HUMAN	T	435	ENSP00000342681:A435T	ENSP00000342681:A435T	A	+	1	0	CD5	60649103	0.062000	0.20869	0.502000	0.27614	0.073000	0.16967	1.775000	0.38584	1.137000	0.42214	0.462000	0.41574	GCA		0.567	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		5	368	0	0	0	1	0	5	368				
TPTE2P6	374491	broad.mit.edu	37	13	25168489	25168489	+	RNA	SNP	G	G	A	rs200109937		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr13:25168489G>A	ENST00000453498.1	+	0	1161				TPTE2P6_ENST00000440905.1_RNA																							TGAAAGTGCAGTTTTTCTCTT	0.363																																						ENST00000453498.1																			0																																																			0							g.chr13:25168489G>A																													13.37:g.25168489G>A														0	1161	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.363	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			6	196	0	0	0	1	0	6	196				
NDUFA4	4697	broad.mit.edu	37	7	10979660	10979660	+	Missense_Mutation	SNP	C	C	T	rs368918684		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:10979660C>T	ENST00000339600.5	-	1	223	c.25G>A	c.(25-27)Gcc>Acc	p.A9T	RP5-855F16.1_ENST00000604183.1_lincRNA|NDUFA4_ENST00000492822.1_5'UTR	NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN	NDUFA4, mitochondrial complex associated	9					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrial respiratory chain complex IV (GO:0005751)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|protein complex binding (GO:0032403)			large_intestine(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TGCTTCTTGGCCTGACCGATG	0.552																																						ENST00000339600.5																			0				large_intestine(2)|lung(1)	3						c.(25-27)Gcc>Acc		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa	NADH(DB00157)	C	THR/ALA	0,4406		0,0,2203	200.0	176.0	184.0		25	4.0	1.0	7		184	1,8599	1.2+/-3.3	0,1,4299	no	missense	NDUFA4	NM_002489.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	9/82	10979660	1,13005	2203	4300	6503	SO:0001583	missense	4697				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr7:10979660C>T	U94586	CCDS5357.1	7p21.3	2014-07-30	2014-07-30		ENSG00000189043	ENSG00000189043			7687	protein-coding gene	gene with protein product	"""complex I 9kDa subunit"", ""NADH-ubiquinone oxidoreductase MLRQ subunit"""	603833	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4 (9kD, MLRQ)"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa"""			9352085	Standard	NM_002489		Approved	MLRQ, CI-9k	uc003srx.2	O00483	OTTHUMG00000023880	ENST00000339600.5:c.25G>A	7.37:g.10979660C>T	ENSP00000339720:p.Ala9Thr					NDUFA4_ENST00000492822.1_5'UTR	p.A9T	NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	1	223	-			9					A4D109|Q6FHN5	Missense_Mutation	SNP	ENST00000339600.5	37	c.25G>A	CCDS5357.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804259	0.31869	0.0	1.16E-4	ENSG00000189043	ENST00000339600	T	0.77877	-1.13	4.9	4.02	0.46733	.	0.138995	0.50627	D	0.000120	T	0.67154	0.2863	.	.	.	0.34989	D	0.754847	B	0.15719	0.014	B	0.16722	0.016	T	0.68784	-0.5317	9	0.32370	T	0.25	-12.8223	10.9216	0.47167	0.1873:0.8127:0.0:0.0	.	9	O00483	NDUA4_HUMAN	T	9	ENSP00000339720:A9T	ENSP00000339720:A9T	A	-	1	0	NDUFA4	10946185	1.000000	0.71417	0.998000	0.56505	0.303000	0.27691	2.226000	0.42963	1.439000	0.47511	-0.196000	0.12772	GCC		0.552	NDUFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207507.3	NM_002489		89	1070	0	0	0	1	0	89	1070				
MAP3K4	4216	broad.mit.edu	37	6	161529826	161529826	+	Silent	SNP	T	T	C			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:161529826T>C	ENST00000392142.4	+	22	4319	c.4171T>C	c.(4171-4173)Ttg>Ctg	p.L1391L	MAP3K4_ENST00000366920.2_Silent_p.L1387L|MAP3K4_ENST00000348824.7_Silent_p.L1337L|MAP3K4_ENST00000366919.2_Silent_p.L1341L	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1391	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TGCAGACGAATTGAAAATATT	0.408																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(4171-4173)Ttg>Ctg		mitogen-activated protein kinase kinase kinase 4							165.0	160.0	162.0					6																	161529826		2203	4300	6503	SO:0001819	synonymous_variant	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161529826T>C	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4171T>C	6.37:g.161529826T>C						MAP3K4_ENST00000366919.2_Silent_p.L1341L|MAP3K4_ENST00000366920.2_Silent_p.L1387L|MAP3K4_ENST00000348824.7_Silent_p.L1337L	p.L1391L	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	22	4319	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1391			Protein kinase.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	c.4171T>C	CCDS34565.1																																																																																				0.408	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			167	579	0	0	0	1	0	167	579				
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1																			4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A														0	3097	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		5	195	0	0	0	1	0	5	195				
DRD3	1814	broad.mit.edu	37	3	113890593	113890593	+	Missense_Mutation	SNP	T	T	C			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:113890593T>C	ENST00000460779.1	-	3	536	c.247A>G	c.(247-249)Atg>Gtg	p.M83V	DRD3_ENST00000295881.7_Missense_Mutation_p.M83V|DRD3_ENST00000467632.1_Missense_Mutation_p.M83V|DRD3_ENST00000383673.2_Missense_Mutation_p.M83V	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	83					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACCCAGGGCATCACCAAGGTG	0.557																																						ENST00000383673.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36						c.(247-249)Atg>Gtg		dopamine receptor D3	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						118.0	110.0	113.0					3																	113890593		2203	4300	6503	SO:0001583	missense	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113890593T>C		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.247A>G	3.37:g.113890593T>C	ENSP00000419402:p.Met83Val					DRD3_ENST00000467632.1_Missense_Mutation_p.M83V|DRD3_ENST00000295881.7_Missense_Mutation_p.M83V|DRD3_ENST00000460779.1_Missense_Mutation_p.M83V	p.M83V	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN			2	677	-			83					A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.247A>G	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.985192	0.74474	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.039827	0.85682	D	0.000000	D	0.82706	0.5095	M	0.79258	2.445	0.80722	D	1	P;P;P;D	0.61697	0.949;0.949;0.949;0.99	P;P;P;D	0.64144	0.786;0.786;0.786;0.922	D	0.85511	0.1197	10	0.87932	D	0	.	14.8765	0.70498	0.0:0.0:0.0:1.0	.	83;83;83;83	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	V	83	ENSP00000419402:M83V;ENSP00000420662:M83V;ENSP00000373169:M83V;ENSP00000295881:M83V	ENSP00000281274:M83V	M	-	1	0	DRD3	115373283	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.979000	0.70508	2.104000	0.64026	0.533000	0.62120	ATG		0.557	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		7	740	0	0	0	1	0	7	740				
DSPP	1834	broad.mit.edu	37	4	88534045	88534045	+	Missense_Mutation	SNP	A	A	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:88534045A>T	ENST00000282478.7	+	3	740	c.707A>T	c.(706-708)gAt>gTt	p.D236V	DSPP_ENST00000399271.1_Missense_Mutation_p.D236V|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	236					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		ACTGGAGAAGATGCTGGCCTG	0.473																																						ENST00000399271.1																			0				breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(706-708)gAt>gTt		dentin sialophosphoprotein							105.0	114.0	111.0					4																	88534045		2030	4191	6221	SO:0001583	missense	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88534045A>T	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.707A>T	4.37:g.88534045A>T	ENSP00000282478:p.Asp236Val					DSPP_ENST00000282478.7_Missense_Mutation_p.D236V|RP11-742B18.1_ENST00000506480.1_RNA	p.D236V	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	4	827	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	236					A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	c.707A>T	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	A	8.916	0.959922	0.18507	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.92199	-2.99;-2.99	4.59	2.06	0.26882	.	.	.	.	.	D	0.88043	0.6331	L	0.48642	1.525	0.47659	D	0.999486	P	0.37101	0.582	B	0.38803	0.282	D	0.83697	0.0180	9	0.72032	D	0.01	-0.0421	7.8545	0.29474	0.8119:0.0:0.1881:0.0	.	236	Q9NZW4	DSPP_HUMAN	V	236	ENSP00000382213:D236V;ENSP00000282478:D236V	ENSP00000282478:D236V	D	+	2	0	DSPP	88753069	0.968000	0.33430	0.296000	0.24974	0.128000	0.20619	1.284000	0.33249	0.256000	0.21614	0.455000	0.32223	GAT		0.473	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		56	222	0	0	0	1	0	56	222				
ACACB	32	broad.mit.edu	37	12	109625910	109625910	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:109625910C>T	ENST00000338432.7	+	13	2206	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	ACACB_ENST00000377848.3_Missense_Mutation_p.A696V|ACACB_ENST00000377854.5_Missense_Mutation_p.A696V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	696	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CACGAGTTTGCGGATTCCCAA	0.562																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2086-2088)gCg>gTg		acetyl-CoA carboxylase beta	Biotin(DB00121)						138.0	124.0	129.0					12																	109625910		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109625910C>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2087C>T	12.37:g.109625910C>T	ENSP00000341044:p.Ala696Val					ACACB_ENST00000377848.3_Missense_Mutation_p.A696V|ACACB_ENST00000377854.5_Missense_Mutation_p.A696V	p.A696V			O00763	ACACB_HUMAN			13	2206	+			696			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.2087C>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.204492	0.79127	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.81163	-1.46;-1.46;-1.46	5.27	5.27	0.74061	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.89539	0.6744	M	0.83774	2.66	0.80722	D	1	D	0.58620	0.983	P	0.60117	0.869	D	0.91035	0.4867	10	0.87932	D	0	.	18.6174	0.91308	0.0:1.0:0.0:0.0	.	696	O00763	ACACB_HUMAN	V	696	ENSP00000341044:A696V;ENSP00000367079:A696V;ENSP00000367085:A696V	ENSP00000341044:A696V	A	+	2	0	ACACB	108110293	1.000000	0.71417	0.675000	0.29917	0.220000	0.24768	7.688000	0.84153	2.509000	0.84616	0.531000	0.56144	GCG		0.562	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		6	696	0	0	0	1	0	6	696				
PTPRE	5791	broad.mit.edu	37	10	129847884	129847884	+	Missense_Mutation	SNP	G	G	A	rs200125787	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:129847884G>A	ENST00000254667.3	+	6	653	c.374G>A	c.(373-375)cGt>cAt	p.R125H	PTPRE_ENST00000306042.5_Missense_Mutation_p.R67H|PTPRE_ENST00000419012.2_Missense_Mutation_p.R125H|PTPRE_ENST00000430713.2_Missense_Mutation_p.R125H|PTPRE_ENST00000471218.1_Silent_p.P123P	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	125					negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GAGGAGATCCGTATCAGATCC	0.587													G|||	3	0.000599042	0.0	0.0	5008	,	,		17700	0.0		0.001	False		,,,				2504	0.002				Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(373-375)cGt>cAt		protein tyrosine phosphatase, receptor type, E							78.0	73.0	75.0					10																	129847884		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129847884G>A	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.374G>A	10.37:g.129847884G>A	ENSP00000254667:p.Arg125His					PTPRE_ENST00000306042.5_Missense_Mutation_p.R67H|PTPRE_ENST00000471218.1_Silent_p.P123P|PTPRE_ENST00000430713.2_Missense_Mutation_p.R125H|PTPRE_ENST00000419012.2_Missense_Mutation_p.R125H	p.R125H	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			6	653	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	125					Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.374G>A	CCDS7657.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	17.50	3.404097	0.62288	.	.	ENSG00000132334	ENST00000254667;ENST00000442830;ENST00000439034;ENST00000419012;ENST00000430713;ENST00000455661;ENST00000306042	T;T;T	0.11604	2.76;2.76;2.76	3.53	3.53	0.40419	.	0.000000	0.64402	D	0.000001	T	0.29524	0.0736	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.76494	0.999;0.993;0.989;0.993	D;P;P;P	0.76071	0.987;0.749;0.796;0.749	T	0.08086	-1.0739	10	0.66056	D	0.02	.	15.3137	0.74056	0.0:0.0:1.0:0.0	.	103;125;67;125	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	H	125;125;103;125;125;125;67	ENSP00000254667:R125H;ENSP00000402337:R125H;ENSP00000303350:R67H	ENSP00000254667:R125H	R	+	2	0	PTPRE	129737874	1.000000	0.71417	0.895000	0.35142	0.117000	0.20001	6.926000	0.75835	1.993000	0.58246	0.449000	0.29647	CGT		0.587	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			91	406	0	0	0	1	0	91	406				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	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>gTt		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>A	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>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	p.G12V	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>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	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		22	141	1	0	2.98393e-07	1	3.10572e-07	22	141				
USP13	8975	broad.mit.edu	37	3	179472528	179472528	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:179472528A>G	ENST00000263966.3	+	15	2278	c.1807A>G	c.(1807-1809)Att>Gtt	p.I603V	USP13_ENST00000496897.1_Missense_Mutation_p.I538V|USP13_ENST00000482333.1_Intron	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	603	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AGATGTTTCTATTGATATGCC	0.443																																						ENST00000263966.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46						c.(1807-1809)Att>Gtt		ubiquitin specific peptidase 13 (isopeptidase T-3)							129.0	127.0	127.0					3																	179472528		2203	4300	6503	SO:0001583	missense	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179472528A>G	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1807A>G	3.37:g.179472528A>G	ENSP00000263966:p.Ile603Val					USP13_ENST00000482333.1_Intron|USP13_ENST00000496897.1_Missense_Mutation_p.I538V	p.I603V	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		15	2278	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		603					A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	c.1807A>G	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	A	9.476	1.096934	0.20552	.	.	ENSG00000058056	ENST00000263966;ENST00000496897;ENST00000497155	T;T;T	0.69685	-0.42;-0.42;-0.42	6.06	-0.364	0.12553	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.414552	0.27881	N	0.017477	T	0.38026	0.1025	N	0.10837	0.055	0.32629	N	0.522239	B	0.16603	0.018	B	0.20184	0.028	T	0.45702	-0.9243	10	0.02654	T	1	-6.9124	10.2671	0.43462	0.6864:0.0:0.3136:0.0	.	603	Q92995	UBP13_HUMAN	V	603;538;249	ENSP00000263966:I603V;ENSP00000417146:I538V;ENSP00000420057:I249V	ENSP00000263966:I603V	I	+	1	0	USP13	180955222	0.980000	0.34600	0.591000	0.28745	0.988000	0.76386	1.468000	0.35332	-0.264000	0.09365	-0.297000	0.09499	ATT		0.443	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			16	692	0	0	0	1	0	16	692				
ZNF276	92822	broad.mit.edu	37	16	89789731	89789731	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr16:89789731C>T	ENST00000443381.2	+	4	717	c.620C>T	c.(619-621)gCg>gTg	p.A207V	VPS9D1_ENST00000389386.3_5'Flank|ZNF276_ENST00000289816.5_Missense_Mutation_p.A132V|ZNF276_ENST00000568064.1_Missense_Mutation_p.R126W|ZNF276_ENST00000446326.2_Missense_Mutation_p.R4W	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CATGGACATGCGGCCAGCTGC	0.642																																						ENST00000289816.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(394-396)gCg>gTg		zinc finger protein 276							48.0	48.0	48.0					16																	89789731		2197	4300	6497	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89789731C>T	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.620C>T	16.37:g.89789731C>T	ENSP00000415836:p.Ala207Val					ZNF276_ENST00000568064.1_Missense_Mutation_p.R126W|ZNF276_ENST00000446326.2_Missense_Mutation_p.R4W|ZNF276_ENST00000443381.2_Missense_Mutation_p.A207V	p.A132V	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	4	707	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	207			ZAD.		Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.395C>T	CCDS45554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.220331|4.220331	0.79464|0.79464	.|.	.|.	ENSG00000158805|ENSG00000158805	ENST00000289816;ENST00000443381|ENST00000446326	T;T|T	0.09073|0.07114	3.02;3.07|3.22	5.6|5.6	4.64|4.64	0.57946|0.57946	.|.	0.054294|.	0.85682|.	D|.	0.000000|.	T|T	0.14874|0.14874	0.0359|0.0359	M|M	0.68952|0.68952	2.095|2.095	0.30534|0.30534	N|N	0.767094|0.767094	D;D|D	0.89917|0.62365	0.998;1.0|0.991	P;D|B	0.83275|0.44315	0.825;0.996|0.446	T|T	0.05989|0.05989	-1.0852|-1.0852	10|9	0.72032|0.87932	D|D	0.01|0	-14.61|-14.61	15.0558|15.0558	0.71912|0.71912	0.1428:0.8572:0.0:0.0|0.1428:0.8572:0.0:0.0	.|.	45;207|4	B4DIT3;Q8N554|A8K186	.;ZN276_HUMAN|.	V|W	132;207|4	ENSP00000289816:A132V;ENSP00000415836:A207V|ENSP00000415999:R4W	ENSP00000289816:A132V|ENSP00000415999:R4W	A|R	+|+	2|1	0|2	ZNF276|ZNF276	88317232|88317232	1.000000|1.000000	0.71417|0.71417	0.054000|0.054000	0.19295|0.19295	0.874000|0.874000	0.50279|0.50279	5.160000|5.160000	0.64929|0.64929	1.368000|1.368000	0.46115|0.46115	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.642	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		78	379	0	0	0	1	0	78	379				
CDC42BPG	55561	broad.mit.edu	37	11	64594614	64594614	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr11:64594614G>A	ENST00000342711.5	-	34	4296	c.4297C>T	c.(4297-4299)Cgc>Tgc	p.R1433C		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						AGCTTGGAGCGCACAAAAGGG	0.652																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(4297-4299)Cgc>Tgc		CDC42 binding protein kinase gamma (DMPK-like)							133.0	114.0	120.0					11																	64594614		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64594614G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4297C>T	11.37:g.64594614G>A	ENSP00000345133:p.Arg1433Cys						p.R1433C	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			34	4296	-			1433						Missense_Mutation	SNP	ENST00000342711.5	37	c.4297C>T	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764319	0.69878	.	.	ENSG00000171219	ENST00000342711	T	0.76578	-1.03	4.72	4.72	0.59763	.	0.000000	0.43919	D	0.000518	D	0.87402	0.6168	M	0.82716	2.605	0.53688	D	0.99997	D	0.89917	1.0	D	0.91635	0.999	D	0.88618	0.3161	10	0.87932	D	0	.	10.7952	0.46455	0.0:0.0:0.8108:0.1892	.	1433	Q6DT37	MRCKG_HUMAN	C	1433	ENSP00000345133:R1433C	ENSP00000345133:R1433C	R	-	1	0	CDC42BPG	64351190	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	1.412000	0.34714	2.352000	0.79861	0.561000	0.74099	CGC		0.652	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		7	805	0	0	0	1	0	7	805				
IL2RA	3559	broad.mit.edu	37	10	6067953	6067953	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:6067953C>T	ENST00000379959.3	-	2	273	c.100G>A	c.(100-102)Gcc>Acc	p.A34T	IL2RA_ENST00000379954.1_Missense_Mutation_p.A34T|IL2RA_ENST00000256876.6_Missense_Mutation_p.A34T|RP11-536K7.5_ENST00000440436.1_RNA	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	34	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TTGAATGTGGCGTGTGGGATC	0.478																																						ENST00000379959.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(100-102)Gcc>Acc		interleukin 2 receptor, alpha	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						117.0	101.0	107.0					10																	6067953		2203	4300	6503	SO:0001583	missense	3559				cell proliferation	integral to membrane	interleukin-2 receptor activity	g.chr10:6067953C>T	X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"""Interleukins and interleukin receptors"", ""CD molecules"""	6008	protein-coding gene	gene with protein product		147730	"""insulin-dependent diabetes mellitus 10"""	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.100G>A	10.37:g.6067953C>T	ENSP00000369293:p.Ala34Thr					RP11-536K7.5_ENST00000440436.1_RNA|IL2RA_ENST00000379954.1_Missense_Mutation_p.A34T|IL2RA_ENST00000256876.6_Missense_Mutation_p.A34T	p.A34T	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN			2	273	-			34			Sushi 1.		Q5W007	Missense_Mutation	SNP	ENST00000379959.3	37	c.100G>A	CCDS7076.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037140	0.75617	.	.	ENSG00000134460	ENST00000379959;ENST00000397240;ENST00000379954;ENST00000256876	T;T;T	0.65916	-0.18;-0.18;-0.18	4.81	4.81	0.61882	Complement control module (2);Sushi/SCR/CCP (3);	0.103338	0.42964	D	0.000624	T	0.75598	0.3871	M	0.64404	1.975	0.36553	D	0.87198	D;D	0.89917	0.996;1.0	P;D	0.91635	0.788;0.999	T	0.81228	-0.1028	10	0.87932	D	0	-21.561	13.5691	0.61836	0.0:1.0:0.0:0.0	.	34;34	Q5W005;P01589	.;IL2RA_HUMAN	T	34;20;34;34	ENSP00000369293:A34T;ENSP00000369287:A34T;ENSP00000256876:A34T	ENSP00000256876:A34T	A	-	1	0	IL2RA	6107959	0.965000	0.33210	0.451000	0.26982	0.007000	0.05969	3.001000	0.49488	2.649000	0.89929	0.650000	0.86243	GCC		0.478	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417		70	339	0	0	0	1	0	70	339				
TPTE2P2	644623	broad.mit.edu	37	13	52803481	52803481	+	RNA	SNP	A	A	C			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr13:52803481A>C	ENST00000451298.1	-	0	1023				TPTE2P2_ENST00000606973.1_RNA																							ATAAATAACGAATCTTTTTAT	0.363																																						ENST00000451298.1																			0																																																			0							g.chr13:52803481A>C																													13.37:g.52803481A>C						RP11-64P12.8_ENST00000606031.1_RNA								0	1023	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.363	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			4	65	0	0	0	1	0	4	65				
BMP15	9210	broad.mit.edu	37	X	50659096	50659096	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chrX:50659096G>A	ENST00000252677.3	+	2	668	c.668G>A	c.(667-669)gGc>gAc	p.G223D		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	223					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CTCTGGCATGGCACTTCATCC	0.448																																						ENST00000252677.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26						c.(667-669)gGc>gAc		bone morphogenetic protein 15							154.0	121.0	132.0					X																	50659096		2203	4299	6502	SO:0001583	missense	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50659096G>A	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.668G>A	X.37:g.50659096G>A	ENSP00000252677:p.Gly223Asp						p.G223D	NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN			2	668	+	Ovarian(276;0.236)		223					Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	c.668G>A	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	g	0.015	-1.560023	0.00910	.	.	ENSG00000130385	ENST00000252677	T	0.79033	-1.23	5.13	0.985	0.19779	.	1.204080	0.05686	N	0.591429	T	0.72906	0.3519	M	0.64997	1.995	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.55872	-0.8072	10	0.46703	T	0.11	.	4.8746	0.13650	0.2936:0.2843:0.4221:0.0	.	223	O95972	BMP15_HUMAN	D	223	ENSP00000252677:G223D	ENSP00000252677:G223D	G	+	2	0	BMP15	50675836	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.002000	0.12924	0.081000	0.16988	-0.497000	0.04613	GGC		0.448	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		5	468	0	0	0	1	0	5	468				
RP11-93K22.13	0	broad.mit.edu	37	3	129811972	129811972	+	lincRNA	SNP	G	G	C			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:129811972G>C	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							TTGACGGACAGAACCTTCCTT	0.408																																						ENST00000514010.1																			0																				81.0	64.0	69.0					3																	129811972		692	1591	2283			0							g.chr3:129811972G>C																													3.37:g.129811972G>C						ALG1L2_ENST00000507643.1_RNA								0	157	-									RNA	SNP	ENST00000514010.1	37																																																																																						0.408	RP11-93K22.13-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000358040.1			5	420	0	0	0	1	0	5	420				
YPEL1	29799	broad.mit.edu	37	22	22049265	22049265	+	IGR	SNP	G	G	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr22:22049265G>T	ENST00000339468.3	-	0	4329				PPIL2_ENST00000456792.2_Intron|PPIL2_ENST00000398831.3_Nonsense_Mutation_p.E458*|PPIL2_ENST00000492445.2_Nonsense_Mutation_p.E458*|PPIL2_ENST00000335025.8_Nonsense_Mutation_p.E458*|PPIL2_ENST00000446951.1_3'UTR|PPIL2_ENST00000406385.1_Nonsense_Mutation_p.E458*|PPIL2_ENST00000412327.1_Nonsense_Mutation_p.E458*	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)							nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					GGTAGCCCCGGAGACCAAAGT	0.642																																						ENST00000406385.1																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17						c.(1372-1374)Gag>Tag		peptidylprolyl isomerase (cyclophilin)-like 2							64.0	74.0	71.0					22																	22049265		2203	4300	6503	SO:0001628	intergenic_variant	23759				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	g.chr22:22049265G>T	AF060862	CCDS13794.1	22q11.2	2008-02-04	2001-11-28		ENSG00000100027	ENSG00000100027			12845	protein-coding gene	gene with protein product		608082	"""yippee (Drosophila) homolog-like 1"""			11473580	Standard	NM_013313		Approved		uc002zvl.3	O60688	OTTHUMG00000150830		22.37:g.22049265G>T						PPIL2_ENST00000335025.7_Nonsense_Mutation_p.E458*|PPIL2_ENST00000492445.2_Nonsense_Mutation_p.E458*|PPIL2_ENST00000412327.1_Nonsense_Mutation_p.E458*|PPIL2_ENST00000398831.3_Nonsense_Mutation_p.E458*|PPIL2_ENST00000456792.2_Intron	p.E458*			Q13356	PPIL2_HUMAN			19	1432	+	Colorectal(54;0.105)		458					Q65ZA1|Q6GLI6	Nonsense_Mutation	SNP	ENST00000339468.3	37	c.1372G>T	CCDS13794.1	.	.	.	.	.	.	.	.	.	.	G	38	6.651515	0.97734	.	.	ENSG00000100023	ENST00000412327;ENST00000335025;ENST00000398831;ENST00000492445;ENST00000406385;ENST00000446951	.	.	.	4.06	4.06	0.47325	.	0.454011	0.25135	N	0.032869	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	14.2435	0.65973	0.0:0.0:1.0:0.0	.	.	.	.	X	458;458;458;458;458;238	.	ENSP00000334553:E458X	E	+	1	0	PPIL2	20379265	0.998000	0.40836	0.194000	0.23346	0.341000	0.28922	2.469000	0.45110	2.577000	0.86979	0.650000	0.86243	GAG		0.642	YPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320245.1	NM_013313		142	624	1	0	6.46734e-63	1	7.01776e-63	142	624				
NUP153	9972	broad.mit.edu	37	6	17688753	17688753	+	Missense_Mutation	SNP	T	T	C	rs138192099		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:17688753T>C	ENST00000262077.2	-	2	207	c.208A>G	c.(208-210)Aca>Gca	p.T70A	NUP153_ENST00000537253.1_Missense_Mutation_p.T70A	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	70					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTTGTGTCTGTTGAACAGCTG	0.443																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(208-210)Aca>Gca		nucleoporin 153kDa		T	ALA/THR	1,4405	2.1+/-5.4	0,1,2202	160.0	150.0	153.0		208	-5.4	0.8	6	dbSNP_134	153	0,8600		0,0,4300	no	missense	NUP153	NM_005124.2	58	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	70/1476	17688753	1,13005	2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17688753T>C	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.208A>G	6.37:g.17688753T>C	ENSP00000262077:p.Thr70Ala					NUP153_ENST00000537253.1_Missense_Mutation_p.T70A	p.T70A	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		2	207	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	70					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.208A>G	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	T	6.897	0.535033	0.13188	2.27E-4	0.0	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.06768	3.26;3.26	5.47	-5.39	0.02664	.	1.131680	0.06738	N	0.777800	T	0.01454	0.0047	L	0.29908	0.895	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.11329	0.006;0.003;0.001	T	0.48007	-0.9072	10	0.32370	T	0.25	0.0183	3.9755	0.09472	0.1172:0.4447:0.1194:0.3187	.	70;92;70	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	A	70;92;70	ENSP00000262077:T70A;ENSP00000444029:T70A	ENSP00000262077:T70A	T	-	1	0	NUP153	17796732	0.214000	0.23563	0.822000	0.32727	0.425000	0.31504	-0.801000	0.04550	-0.878000	0.04007	-0.256000	0.11100	ACA		0.443	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			41	721	0	0	0	1	0	41	721				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)caG>caC		decapping mRNA 1B							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H	p.Q252H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		5	330	0	0	0	1	0	5	330				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			6	372	1	0	8.12818e-05	1	8.29075e-05	6	372				
U2AF2	11338	broad.mit.edu	37	19	56171880	56171880	+	Splice_Site	SNP	A	A	C			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr19:56171880A>C	ENST00000308924.4	+	4	270		c.e4-1		CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000450554.2_Splice_Site|U2AF2_ENST00000590551.1_5'Flank|CTD-2537I9.12_ENST00000589456.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(2)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACCTCCCCCAGTCGTTCCCC	0.637																																						ENST00000450554.2																			2	Unknown(2)	p.?(2)	prostate(1)|central_nervous_system(1)	biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21						c.e4-1		U2 small nuclear RNA auxiliary factor 2							28.0	26.0	27.0					19																	56171880		2203	4300	6503	SO:0001630	splice_region_variant	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56171880A>C	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.231-1A>C	19.37:g.56171880A>C						U2AF2_ENST00000308924.4_Splice_Site		NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	4	1189	+		Colorectal(82;0.00244)|Ovarian(87;0.133)						Q96HC5	Splice_Site	SNP	ENST00000308924.4	37		CCDS12933.1	.	.	.	.	.	.	.	.	.	.	-	17.96	3.515229	0.64634	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	.	.	.	3.61	3.61	0.41365	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1346	0.42699	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	U2AF2	60863692	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.427000	0.90275	1.646000	0.50622	0.387000	0.25754	.		0.637	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279	Intron	9	120	0	0	0	1	0	9	120				
CADPS2	93664	broad.mit.edu	37	7	122303575	122303575	+	Missense_Mutation	SNP	A	A	C			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:122303575A>C	ENST00000449022.2	-	3	521	c.502T>G	c.(502-504)Tgt>Ggt	p.C168G	CADPS2_ENST00000313070.7_Missense_Mutation_p.C168G|CADPS2_ENST00000334010.7_Missense_Mutation_p.C168G|CADPS2_ENST00000412584.2_Missense_Mutation_p.C168G	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	168					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.C168G(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTAGCAGAACACCCTCCACTC	0.373																																						ENST00000334010.7																			1	Substitution - Missense(1)	p.C168G(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(502-504)Tgt>Ggt		Ca++-dependent secretion activator 2							33.0	31.0	32.0					7																	122303575		1851	4110	5961	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122303575A>C		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.502T>G	7.37:g.122303575A>C	ENSP00000398481:p.Cys168Gly					CADPS2_ENST00000412584.2_Missense_Mutation_p.C168G|CADPS2_ENST00000313070.7_Missense_Mutation_p.C168G|CADPS2_ENST00000449022.2_Missense_Mutation_p.C168G	p.C168G	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			3	923	-			168					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.502T>G	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.093183	0.76756	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.91290	0.7254	M	0.77313	2.365	0.80722	D	1	P;P	0.47106	0.696;0.89	B;B	0.43413	0.268;0.419	D	0.92551	0.6050	10	0.87932	D	0	-10.1063	15.1818	0.72965	1.0:0.0:0.0:0.0	.	168;168	Q86UW7-2;Q86UW7	.;CAPS2_HUMAN	G	168;168;168;135;168;168	ENSP00000325581:C168G;ENSP00000333940:C168G;ENSP00000400401:C168G;ENSP00000398481:C168G	ENSP00000325581:C168G	C	-	1	0	CADPS2	122090811	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.307000	0.96226	1.997000	0.58415	0.528000	0.53228	TGT		0.373	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		13	77	0	0	0	1	0	13	77				
EPHB6	2051	broad.mit.edu	37	7	142562188	142562188	+	Silent	SNP	C	C	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:142562188C>T	ENST00000392957.2	+	7	1417	c.630C>T	c.(628-630)taC>taT	p.Y210Y	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.Y210Y	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	210	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCGGCTTCTACGTGGCCTTCC	0.657																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(628-630)taC>taT		EPH receptor B6							86.0	98.0	94.0					7																	142562188		2200	4287	6487	SO:0001819	synonymous_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562188C>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.630C>T	7.37:g.142562188C>T						EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.Y210Y	p.Y210Y	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1417	+	Melanoma(164;0.059)		210					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.630C>T	CCDS5873.2																																																																																				0.657	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			27	1379	0	0	0	1	0	27	1379				
UGT1A3	54659	broad.mit.edu	37	2	234637991	234637991	+	Missense_Mutation	SNP	C	C	A	rs200579886	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:234637991C>A	ENST00000482026.1	+	1	238	c.219C>A	c.(217-219)aaC>aaA	p.N73K	UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.N73K|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	73					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	AAGAAGAGAACTTTTTCACCC	0.517													C|||	3	0.000599042	0.0	0.0043	5008	,	,		21736	0.0		0.0	False		,,,				2504	0.0					ENST00000482026.1																			0				breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46						c.(217-219)aaC>aaA				C	,,,,,,LYS/ASN,,	2,4404	4.2+/-10.8	0,2,2201	107.0	108.0	107.0		,,,,,,219,,	2.3	0.7	2		107	2,8598	2.2+/-6.3	0,2,4298	no	intron,intron,intron,intron,intron,intron,missense,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4,UGT1A3	NM_001072.3,NM_007120.2,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_019093.2,NM_021027.2,NM_205862.1	,,,,,,94,,	0,4,6499	AA,AC,CC		0.0233,0.0454,0.0308	,,,,,,,,	,,,,,,73/535,,	234637991	4,13002	2203	4300	6503	SO:0001583	missense	0							g.chr2:234637991C>A	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.219C>A	2.37:g.234637991C>A	ENSP00000418532:p.Asn73Lys					UGT1A9_ENST00000354728.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	p.N73K	NM_019093.2	NP_061966.1				Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	1	238	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B8K287	Missense_Mutation	SNP	ENST00000482026.1	37	c.219C>A	CCDS2509.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0	-2.648177	0.00111	4.54E-4	2.33E-4	ENSG00000243135	ENST00000482026	T	0.58506	0.33	4.31	2.31	0.28768	.	.	.	.	.	T	0.21590	0.0520	N	0.01134	-0.995	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.12156	0.007;0.007	T	0.28522	-1.0041	9	0.07030	T	0.85	.	6.2784	0.20993	0.0:0.5725:0.2153:0.2122	.	73;73	Q5DT01;P35503	.;UD13_HUMAN	K	73	ENSP00000418532:N73K	ENSP00000418532:N73K	N	+	3	2	UGT1A3	234302730	0.000000	0.05858	0.657000	0.29651	0.024000	0.10985	-0.571000	0.05889	0.804000	0.34136	0.580000	0.79431	AAC		0.517	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		8	644	1	0	5.18039e-06	1	5.31946e-06	8	644				
KCNQ4	9132	broad.mit.edu	37	1	41284263	41284263	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:41284263C>T	ENST00000347132.5	+	4	701	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	KCNQ4_ENST00000509682.2_Missense_Mutation_p.R207C	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	207					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	GCGCAGCATGCGCTTCCTGCA	0.682																																						ENST00000347132.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26						c.(619-621)Cgc>Tgc		potassium voltage-gated channel, KQT-like subfamily, member 4							26.0	25.0	25.0					1																	41284263		2202	4297	6499	SO:0001583	missense	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41284263C>T	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.619C>T	1.37:g.41284263C>T	ENSP00000262916:p.Arg207Cys					KCNQ4_ENST00000509682.2_Missense_Mutation_p.R207C	p.R207C	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		4	701	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	207					O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.619C>T	CCDS456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.7|29.7	5.029102|5.029102	0.93518|0.93518	.|.	.|.	ENSG00000117013|ENSG00000117013	ENST00000443478|ENST00000347132;ENST00000509682	.|D;D	.|0.99652	.|-6.3;-6.3	5.04|5.04	5.04|5.04	0.67666|0.67666	.|Ion transport (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99743|0.99743	0.9898|0.9898	H|H	0.95328|0.95328	3.655|3.655	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	D|D	0.97252|0.97252	0.9898|0.9898	5|10	.|0.87932	.|D	.|0	-22.544|-22.544	15.9289|15.9289	0.79644|0.79644	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|207;207	.|P56696-2;P56696	.|.;KCNQ4_HUMAN	V|C	102|207	.|ENSP00000262916:R207C;ENSP00000423756:R207C	.|ENSP00000262916:R207C	A|R	+|+	2|1	0|0	KCNQ4|KCNQ4	41056850|41056850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.064000|3.064000	0.49986|0.49986	2.615000|2.615000	0.88500|0.88500	0.650000|0.650000	0.86243|0.86243	GCG|CGC		0.682	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		5	199	0	0	0	1	0	5	199				
LNX2	222484	broad.mit.edu	37	13	28127529	28127529	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr13:28127529G>A	ENST00000316334.3	-	8	1723	c.1594C>T	c.(1594-1596)Cac>Tac	p.H532Y		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	532	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GCCTCACTGTGACTTAAATTG	0.473																																						ENST00000316334.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1594-1596)Cac>Tac		ligand of numb-protein X 2							95.0	89.0	91.0					13																	28127529		2203	4300	6503	SO:0001583	missense	0						zinc ion binding	g.chr13:28127529G>A	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.1594C>T	13.37:g.28127529G>A	ENSP00000325929:p.His532Tyr						p.H532Y	NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	8	1723	-		Lung SC(185;0.0156)	532			PDZ 3.		Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	c.1594C>T	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768570	0.49680	.	.	ENSG00000139517	ENST00000316334	T	0.46063	0.88	6.1	6.1	0.99115	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	L	0.35414	1.06	0.80722	D	1	B	0.31581	0.329	B	0.42214	0.38	T	0.27020	-1.0086	10	0.42905	T	0.14	.	20.7146	0.99709	0.0:0.0:1.0:0.0	.	532	Q8N448	LNX2_HUMAN	Y	532	ENSP00000325929:H532Y	ENSP00000325929:H532Y	H	-	1	0	LNX2	27025529	1.000000	0.71417	0.974000	0.42286	0.714000	0.41099	9.476000	0.97823	2.902000	0.99343	0.650000	0.86243	CAC		0.473	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			83	410	0	0	0	1	0	83	410				
DGUOK	1716	broad.mit.edu	37	2	74184338	74184338	+	Silent	SNP	C	C	T	rs372217661		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:74184338C>T	ENST00000264093.4	+	5	763	c.678C>T	c.(676-678)caC>caT	p.H226H	DGUOK_ENST00000348222.1_Intron|DGUOK-AS1_ENST00000413452.1_RNA|DGUOK-AS1_ENST00000439192.1_RNA|DGUOK-AS1_ENST00000453103.1_RNA|DGUOK_ENST00000462685.1_Intron|DGUOK_ENST00000356837.6_Silent_p.H204H	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	226					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	ATGGCCAACACGAAGCCTGGC	0.478																																						ENST00000264093.4																			0				endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(676-678)caC>caT		deoxyguanosine kinase		C	,	0,4406		0,0,2203	78.0	66.0	70.0		678,	-0.8	1.0	2		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron	DGUOK	NM_080916.1,NM_080918.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	226/278,	74184338	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1716				guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:74184338C>T	U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.678C>T	2.37:g.74184338C>T						DGUOK-AS1_ENST00000453103.1_RNA|DGUOK_ENST00000462685.1_Intron|DGUOK_ENST00000348222.1_Intron|DGUOK_ENST00000356837.6_Silent_p.H204H	p.H226H	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN			5	763	+			226					P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Silent	SNP	ENST00000264093.4	37	c.678C>T	CCDS1931.1																																																																																				0.478	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252050.1			38	187	0	0	0	1	0	38	187				
RING1	6015	broad.mit.edu	37	6	33180151	33180151	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:33180151A>G	ENST00000374656.4	+	7	1404	c.1196A>G	c.(1195-1197)tAt>tGt	p.Y399C	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	399	Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GAGCTGTGCTATGCTCCCACC	0.577																																						ENST00000374656.4																			0				endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						c.(1195-1197)tAt>tGt		ring finger protein 1							26.0	22.0	24.0					6																	33180151		1508	2708	4216	SO:0001583	missense	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33180151A>G		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.1196A>G	6.37:g.33180151A>G	ENSP00000363787:p.Tyr399Cys					RING1_ENST00000478431.1_3'UTR	p.Y399C	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN			7	1404	+			399			Necessary for interaction with CBX2 (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	37	c.1196A>G	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	A	7.108	0.575369	0.13623	.	.	ENSG00000204227	ENST00000374656	D	0.91631	-2.88	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000004	D	0.92011	0.7469	L	0.46157	1.445	0.44547	D	0.9975	D	0.76494	0.999	P	0.62813	0.907	D	0.93243	0.6628	10	0.87932	D	0	-21.6827	12.5707	0.56334	1.0:0.0:0.0:0.0	.	399	Q06587	RING1_HUMAN	C	399	ENSP00000363787:Y399C	ENSP00000363787:Y399C	Y	+	2	0	RING1	33288129	1.000000	0.71417	0.041000	0.18516	0.001000	0.01503	3.901000	0.56303	2.046000	0.60703	0.523000	0.50628	TAT		0.577	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			10	34	0	0	0	1	0	10	34				
FAM213A	84293	broad.mit.edu	37	10	82182230	82182230	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:82182230C>T	ENST00000372181.1	+	2	706	c.236C>T	c.(235-237)gCc>gTc	p.A79V	FAM213A_ENST00000372185.1_Missense_Mutation_p.A68V|FAM213A_ENST00000372187.5_Missense_Mutation_p.A79V|FAM213A_ENST00000372188.1_Missense_Mutation_p.A79V	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	F213A_HUMAN	family with sequence similarity 213, member A	79	Thioredoxin fold. {ECO:0000250}.				oxidation-reduction process (GO:0055114)|regulation of osteoclast differentiation (GO:0045670)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)										GTGATTATGGCCGTGCGGAGG	0.488																																						ENST00000372181.1																			0											c.(235-237)gCc>gTc		family with sequence similarity 213, member A							94.0	104.0	100.0					10																	82182230		2203	4300	6503	SO:0001583	missense	84293					extracellular region		g.chr10:82182230C>T	AF086462	CCDS7368.1, CCDS58089.1	10q23.1	2011-12-08	2011-12-08	2011-12-08	ENSG00000122378	ENSG00000122378			28651	protein-coding gene	gene with protein product	"""peroxiredoxin-like 2 activated in M-CSF stimulated monocytes"""		"""chromosome 10 open reading frame 58"""	C10orf58		11483580, 19951071	Standard	NM_032333		Approved	MGC4248, PAMM	uc001kce.4	Q9BRX8	OTTHUMG00000018614	ENST00000372181.1:c.236C>T	10.37:g.82182230C>T	ENSP00000361254:p.Ala79Val					FAM213A_ENST00000372188.1_Missense_Mutation_p.A79V|FAM213A_ENST00000372187.5_Missense_Mutation_p.A79V|FAM213A_ENST00000372185.1_Missense_Mutation_p.A68V	p.A79V	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN			2	706	+			79					B2RD81|Q6UW08|Q8N2K3|Q8NBK9|Q96JR0	Missense_Mutation	SNP	ENST00000372181.1	37	c.236C>T	CCDS7368.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828224	0.90955	.	.	ENSG00000122378	ENST00000372188;ENST00000372187;ENST00000372185;ENST00000372181	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.54838	0.1883	L	0.48877	1.53	0.80722	D	1	P	0.49559	0.925	P	0.45138	0.471	T	0.49707	-0.8911	9	0.19147	T	0.46	-2.5793	17.0103	0.86404	0.0:1.0:0.0:0.0	.	79	Q9BRX8	PAMM_HUMAN	V	79;79;68;79	.	ENSP00000361254:A79V	A	+	2	0	C10orf58	82172210	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.300000	0.78841	2.615000	0.88500	0.655000	0.94253	GCC		0.488	FAM213A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049077.2			5	349	0	0	0	1	0	5	349				
PXDNL	137902	broad.mit.edu	37	8	52384793	52384793	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr8:52384793G>A	ENST00000356297.4	-	8	866	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	PXDNL_ENST00000543296.1_Missense_Mutation_p.R256W	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	256	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCTTCCGCCCGGCAGGTGAAG	0.443																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(766-768)Cgg>Tgg		peroxidasin homolog (Drosophila)-like							172.0	166.0	168.0					8																	52384793		1881	4100	5981	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52384793G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.766C>T	8.37:g.52384793G>A	ENSP00000348645:p.Arg256Trp					PXDNL_ENST00000543296.1_Missense_Mutation_p.R256W	p.R256W	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			8	866	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	256			Ig-like C2-type 1.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.766C>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	5.881	0.346632	0.11126	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.68479	-0.33;-0.33	3.75	-1.64	0.08318	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59702	0.2213	M	0.80982	2.52	0.26541	N	0.974078	B	0.33022	0.394	B	0.24848	0.056	T	0.50355	-0.8838	9	0.59425	D	0.04	.	5.0227	0.14369	0.3612:0.1446:0.4942:0.0	.	256	A1KZ92	PXDNL_HUMAN	W	256	ENSP00000348645:R256W;ENSP00000444865:R256W	ENSP00000348645:R256W	R	-	1	2	PXDNL	52547346	0.441000	0.25626	0.000000	0.03702	0.001000	0.01503	0.107000	0.15375	-0.936000	0.03723	-0.236000	0.12185	CGG		0.443	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		6	660	0	0	0	1	0	6	660				
FAT2	2196	broad.mit.edu	37	5	150911268	150911268	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr5:150911268C>T	ENST00000261800.5	-	13	9703	c.9691G>A	c.(9691-9693)Gcc>Acc	p.A3231T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3231	Cadherin 29. {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)			CCAGGTGGGGCGTCCTCGGGC	0.677																																						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.(9691-9693)Gcc>Acc		FAT atypical cadherin 2							45.0	37.0	39.0					5																	150911268		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.chr5:150911268C>T	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.9691G>A	5.37:g.150911268C>T	ENSP00000261800:p.Ala3231Thr						p.A3231T	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	9703	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3231			Cadherin 29.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.9691G>A	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.620|1.620	-0.521644|-0.521644	0.04171|0.04171	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000261800|ENST00000520200	T|.	0.55413|.	0.52|.	5.21|5.21	1.35|1.35	0.21983|0.21983	Cadherin (3);Cadherin-like (1);|.	0.252780|.	0.29668|.	N|.	0.011513|.	T|T	0.33818|0.33818	0.0876|0.0876	L|L	0.31926|0.31926	0.97|0.97	0.09310|0.09310	N|N	1|1	B|.	0.18968|.	0.032|.	B|.	0.16722|.	0.016|.	T|T	0.25117|0.25117	-1.0141|-1.0141	10|5	0.12103|.	T|.	0.63|.	.|.	9.4886|9.4886	0.38944|0.38944	0.0:0.7017:0.0:0.2983|0.0:0.7017:0.0:0.2983	.|.	3231|.	Q9NYQ8|.	FAT2_HUMAN|.	T|H	3231|89	ENSP00000261800:A3231T|.	ENSP00000261800:A3231T|.	A|R	-|-	1|2	0|0	FAT2|FAT2	150891461|150891461	0.000000|0.000000	0.05858|0.05858	0.021000|0.021000	0.16686|0.16686	0.115000|0.115000	0.19883|0.19883	-0.032000|-0.032000	0.12266|0.12266	-0.042000|-0.042000	0.13535|0.13535	-0.263000|-0.263000	0.10527|0.10527	GCC|CGC		0.677	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		44	225	0	0	0	1	0	44	225				
PCSK5	5125	broad.mit.edu	37	9	78790148	78790148	+	Intron	SNP	G	G	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr9:78790148G>A	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000376767.3_Missense_Mutation_p.G668E	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						aaatggaatggaatgaaatgg	0.413																																						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.(2002-2004)gGa>gAa		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.chr9:78790148G>A		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+103G>A	9.37:g.78790148G>A						PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron	p.G668E			Q92824	PCSK5_HUMAN			14	2515	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.2003G>A	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	6.842	0.524580	0.13066	.	.	ENSG00000099139	ENST00000376767;ENST00000396108	T	0.78707	-1.2	.	.	.	.	.	.	.	.	T	0.73426	0.3585	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.65113	-0.6247	4	0.72032	D	0.01	.	.	.	.	.	668	B1AMG5	.	E	668	ENSP00000365958:G668E	ENSP00000365958:G668E	G	+	2	0	PCSK5	77979968	0.002000	0.14202	0.089000	0.20774	0.091000	0.18340	-0.601000	0.05687	0.000000	0.14550	0.000000	0.15137	GGA		0.413	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	114	0	0	0	1	0	4	114				
ARID1A	8289	broad.mit.edu	37	1	27106165	27106165	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:27106165delG	ENST00000324856.7	+	20	6147	c.5776delG	c.(5776-5778)ggafs	p.G1926fs	ARID1A_ENST00000374152.2_Frame_Shift_Del_p.G1543fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.G254fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.G1709fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1926					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GACCGAGGATGGAGCTAAGAG	0.537			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5776-5778)gafs		AT rich interactive domain 1A (SWI-like)							120.0	119.0	119.0					1																	27106165		2203	4300	6503	SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106165delG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5776delG	1.37:g.27106165delG	ENSP00000320485:p.Gly1926fs					ARID1A_ENST00000540690.1_Frame_Shift_Del_p.G254fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.G1709fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.G1543fs	p.G1926fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6147	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1926					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.5776delG	CCDS285.1																																																																																				0.537	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		177	612						177	612	---	---	---	---
ANKRD35	148741	broad.mit.edu	37	1	145562117	145562117	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:145562117delA	ENST00000355594.4	+	10	1892	c.1805delA	c.(1804-1806)gaafs	p.E602fs		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	602										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTGGAGGGGAAAAGGCCCTA	0.577																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(1804-1806)gafs		ankyrin repeat domain 35							35.0	44.0	41.0					1																	145562117		2202	4300	6502	SO:0001589	frameshift_variant	148741							g.chr1:145562117delA	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1805delA	1.37:g.145562117delA	ENSP00000347802:p.Glu602fs						p.E602fs	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN			10	1892	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		602					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Frame_Shift_Del	DEL	ENST00000355594.4	37	c.1805delA	CCDS919.1																																																																																				0.577	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		9	619						9	619	---	---	---	---
MCL1	4170	broad.mit.edu	37	1	150551492	150551494	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:150551492_150551494delTCC	ENST00000369026.2	-	1	572_574	c.513_515delGGA	c.(511-516)gaggac>gac	p.E171del	MCL1_ENST00000307940.3_In_Frame_Del_p.E171del|MCL1_ENST00000464132.1_5'Flank	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	171	PEST-like.				apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-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)			GTACAACTCGTCCTCCTCCTCCT	0.635																																						ENST00000369026.2																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8						c.(511-516)gac>ga		myeloid cell leukemia sequence 1 (BCL2-related)			,,	70,4190		29,12,2089					,,	1.0	1.0			54	109,8145		46,17,4064	no	coding,coding,intron	MCL1	NM_182763.2,NM_021960.4,NM_001197320.1	,,	75,29,6153	A1A1,A1R,RR		1.3206,1.6432,1.4304	,,	,,		179,12335				SO:0001651	inframe_deletion	4170				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	g.chr1:150551492_150551494delTCC	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.513_515delGGA	1.37:g.150551501_150551503delTCC	ENSP00000358022:p.Glu171del					MCL1_ENST00000307940.3_In_Frame_Del_p.ED171del	p.ED171del	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_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)		1	572_574	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-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)		171			PEST-like.		B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	In_Frame_Del	DEL	ENST00000369026.2	37	c.513_515delGGA	CCDS957.1																																																																																				0.635	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	NM_021960		9	643						9	643	---	---	---	---
REN	5972	broad.mit.edu	37	1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-	rs142739309|rs121917743		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:204135375_204135377delAGC	ENST00000272190.8	-	1	73_75	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L	REN_ENST00000367195.2_In_Frame_Del_p.15_16LL>L	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	15			L -> R (in HNFJ2; affects ER translocation and processing of nascent preprorenin, resulting in abolished prorenin and renin biosynthesis and secretion). {ECO:0000269|PubMed:19664745}.		angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581																																						ENST00000367195.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19						c.(43-48)ctc>ct		renin	Aliskiren(DB01258)|Remikiren(DB00212)																																			SO:0001651	inframe_deletion	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204135375_204135377delAGC	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.45_47delGCT	1.37:g.204135384_204135386delAGC	ENSP00000272190:p.Leu16del					REN_ENST00000272190.8_In_Frame_Del_p.LL15del	p.LL15del			P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		1	88_90	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		15					Q6FI38|Q6T5C2	In_Frame_Del	DEL	ENST00000272190.8	37	c.45_47delGCT	CCDS30981.1																																																																																				0.581	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		7	750						7	750	---	---	---	---
KIF3C	3797	broad.mit.edu	37	2	26203464	26203466	+	In_Frame_Del	DEL	GTT	GTT	-	rs370364677		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:26203464_26203466delGTT	ENST00000264712.3	-	1	1900_1902	c.1321_1323delAAC	c.(1321-1323)aacdel	p.N441del	KIF3C_ENST00000405914.1_In_Frame_Del_p.N441del	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	441	Poly-Asn.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGGCGGTGGTTGTTGTTGTTG	0.621																																						ENST00000264712.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1321-1323)del		kinesin family member 3C				2,4264		0,2,2131						1.5	1.0			92	6,8248		0,6,4121	no	coding	KIF3C	NM_002254.6		0,8,6252	A1A1,A1R,RR		0.0727,0.0469,0.0639				8,12512				SO:0001651	inframe_deletion	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26203464_26203466delGTT		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1321_1323delAAC	2.37:g.26203473_26203475delGTT	ENSP00000264712:p.Asn441del					KIF3C_ENST00000405914.1_In_Frame_Del_p.N441del	p.N441del	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			1	1900_1902	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		441			Poly-Asn.		O43544|Q4ZG18|Q53SX5|Q562F7	In_Frame_Del	DEL	ENST00000264712.3	37	c.1321_1323delAAC	CCDS1719.1																																																																																				0.621	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			7	1119						7	1119	---	---	---	---
LOC101060019	101060019	broad.mit.edu	37	2	67139780	67139781	+	lincRNA	DEL	AC	AC	-	rs369172208|rs370187922|rs72445228|rs59168699|rs397984891	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:67139780_67139781delAC	ENST00000426260.1	+	0	34																											AATGATCcatacacacacacac	0.411																																						ENST00000426260.1																			0																																																			0							g.chr2:67139780_67139781delAC																													2.37:g.67139790_67139791delAC														0	34	+									RNA	DEL	ENST00000426260.1	37																																																																																						0.411	AC007403.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000328263.1			2	4						2	4	---	---	---	---
AC079896.1	0	broad.mit.edu	37	2	82230473	82230474	+	lincRNA	DEL	AC	AC	-	rs3047364|rs5832517|rs375637858|rs397836656	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:82230473_82230474delAC	ENST00000455845.1	-	0	139																											CCCAAAAACTacacacacacac	0.356														2119	0.423123	0.3744	0.4928	5008	,	,		18557	0.4484		0.3757	False		,,,				2504	0.4622					ENST00000455845.1																			0																																																			0							g.chr2:82230473_82230474delAC																													2.37:g.82230483_82230484delAC														0	139	-									RNA	DEL	ENST00000455845.1	37																																																																																						0.356	AC079896.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000328765.1			4	5						4	5	---	---	---	---
MRPL35	51318	broad.mit.edu	37	2	86433365	86433366	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:86433365_86433366insA	ENST00000337109.4	+	2	214_215	c.180_181insA	c.(181-183)accfs	p.T61fs	MRPL35_ENST00000409180.1_Frame_Shift_Ins_p.T61fs|MRPL35_ENST00000254644.8_Frame_Shift_Ins_p.T61fs|MRPL35_ENST00000605125.1_Frame_Shift_Ins_p.T61fs	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	61					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						CTCCCAGACTTACCACATCTGA	0.406																																						ENST00000337109.4																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						c.(178-183)ctccacfs		mitochondrial ribosomal protein L35																																				SO:0001589	frameshift_variant	51318				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr2:86433365_86433366insA	AF208849	CCDS1987.1, CCDS1988.1	2p11.2	2012-09-13			ENSG00000132313	ENSG00000132313		"""Mitochondrial ribosomal proteins / large subunits"""	14489	protein-coding gene	gene with protein product		611841				11042152, 11551941	Standard	NM_016622		Approved		uc002srg.4	Q9NZE8	OTTHUMG00000037385	ENST00000337109.4:c.181dupA	2.37:g.86433366_86433366dupA	ENSP00000338389:p.Thr61fs					MRPL35_ENST00000605125.1_Frame_Shift_Ins_p.H61fs|MRPL35_ENST00000409180.1_Frame_Shift_Ins_p.H61fs|MRPL35_ENST00000254644.8_Frame_Shift_Ins_p.H61fs	p.H61fs	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN			2	214_215	+			61					A6NKV6|B2RB93|Q658U7|Q8WWA2	Frame_Shift_Ins	INS	ENST00000337109.4	37	c.180_181insA	CCDS1988.1																																																																																				0.406	MRPL35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091002.2	NM_016622		169	905						169	905	---	---	---	---
ANKRD36C	400986	broad.mit.edu	37	2	96525717	96525718	+	Frame_Shift_Ins	INS	-	-	T	rs368489323|rs111957693|rs77057279		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:96525717_96525718insT	ENST00000456556.1	-	61	3871_3872	c.3787_3788insA	c.(3787-3789)ctgfs	p.L1263fs	ANKRD36C_ENST00000419039.2_Frame_Shift_Ins_p.L290fs|ANKRD36C_ENST00000420871.2_Frame_Shift_Ins_p.L514fs			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1263							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						CTTATTTTTCAGTTTTCGAATT	0.282																																						ENST00000456556.1																			0				breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(3787-3789)gaafs		ankyrin repeat domain 36C																																				SO:0001589	frameshift_variant	400986							g.chr2:96525717_96525718insT	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.3787_3788insA	2.37:g.96525717_96525718insT	ENSP00000403302:p.Leu1263fs					ANKRD36C_ENST00000420871.2_Frame_Shift_Ins_p.E514fs|ANKRD36C_ENST00000419039.2_Frame_Shift_Ins_p.E290fs	p.E1263fs							61	3871_3872	-								C9JZ08|Q15694|Q53S06|Q658V2	Frame_Shift_Ins	INS	ENST00000456556.1	37	c.3787_3788insA																																																																																					0.282	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	6						4	6	---	---	---	---
RBM43	375287	broad.mit.edu	37	2	152112048	152112048	+	Splice_Site	DEL	T	T	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:152112048delT	ENST00000331426.5	-	2	364	c.213delA	c.(211-213)aaa>aa	p.K71fs		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	71	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TGGAAATACCTTTTTTTTCTT	0.289																																						ENST00000331426.5																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.e2+1		RNA binding motif protein 43				9,4257		4,1,2128	78.0	82.0	81.0			4.6	1.0	2		80	6,8248		2,2,4123	no	frameshift-near-splice	RBM43	NM_198557.2		6,3,6251	A1A1,A1R,RR		0.0727,0.211,0.1198			152112048	15,12505	2203	4300	6503	SO:0001630	splice_region_variant	375287						nucleotide binding|RNA binding	g.chr2:152112048delT	AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.214+1A>-	2.37:g.152112048delT							p.K71_splice	NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	2	364	-			71			RRM.		B2RMT5	Splice_Site	DEL	ENST00000331426.5	37	c.214_splice	CCDS2191.1																																																																																				0.289	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557	Frame_Shift_Del	7	852						7	852	---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167055992	167055992	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:167055992delT	ENST00000409435.1	-	26	5156	c.5157delA	c.(5155-5157)aaafs	p.K1719fs	SCN9A_ENST00000409672.1_Frame_Shift_Del_p.K1708fs|SCN9A_ENST00000375387.4_Frame_Shift_Del_p.K1720fs|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Frame_Shift_Del_p.K1720fs			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1719					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGGATGAACTTTTTTTGGGT	0.423																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(5158-5160)aafs		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						234.0	251.0	245.0					2																	167055992		2201	4300	6501	SO:0001589	frameshift_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055992delT	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5157delA	2.37:g.167055992delT	ENSP00000386330:p.Lys1719fs					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.K1708fs|SCN9A_ENST00000303354.6_Frame_Shift_Del_p.K1720fs|SCN9A_ENST00000409435.1_Frame_Shift_Del_p.K1719fs	p.K1720fs			Q15858	SCN9A_HUMAN			27	5500	-			1719					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Frame_Shift_Del	DEL	ENST00000409435.1	37	c.5160delA	CCDS46441.1																																																																																				0.423	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		7	1889						7	1889	---	---	---	---
PPIG	9360	broad.mit.edu	37	2	170493804	170493804	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:170493804delA	ENST00000260970.3	+	14	2256	c.2036delA	c.(2035-2037)gaafs	p.E679fs	PPIG_ENST00000448752.2_Frame_Shift_Del_p.E679fs|PPIG_ENST00000409714.3_Frame_Shift_Del_p.E664fs	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	679					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AACAGCAGGGAAAAAAAGGCT	0.358																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(2035-2037)gafs		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						61.0	65.0	64.0					2																	170493804		2203	4300	6503	SO:0001589	frameshift_variant	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493804delA	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.2036delA	2.37:g.170493804delA	ENSP00000260970:p.Glu679fs					PPIG_ENST00000448752.2_Frame_Shift_Del_p.E679fs|PPIG_ENST00000409714.3_Frame_Shift_Del_p.E664fs	p.E679fs	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	2256	+			679					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Frame_Shift_Del	DEL	ENST00000260970.3	37	c.2036delA	CCDS2235.1																																																																																				0.358	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			7	451						7	451	---	---	---	---
ENTPD3-AS1	285266	broad.mit.edu	37	3	40418568	40418568	+	RNA	DEL	A	A	-	rs372220982|rs375124186		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:40418568delA	ENST00000439293.1	-	0	143									ENTPD3 antisense RNA 1																		ggaaggaaggaaagggaaggg	0.547																																						ENST00000439293.1																			0																																																			0							g.chr3:40418568delA			3p22.1	2012-10-12	2012-08-15		ENSG00000223797	ENSG00000223797		"""Long non-coding RNAs"""	26710	non-coding RNA	RNA, long non-coding			"""ENTPD3 antisense RNA 1 (non-protein coding)"""			12477932	Standard	NR_040100		Approved	FLJ36665	uc003cke.4		OTTHUMG00000156074		3.37:g.40418568delA														0	143	-									RNA	DEL	ENST00000439293.1	37																																																																																						0.547	ENTPD3-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000342936.1	NR_040100		8	29						8	29	---	---	---	---
RP11-167H9.4	0	broad.mit.edu	37	3	149784483	149784485	+	RNA	DEL	GAG	GAG	-	rs149652161		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:149784483_149784485delGAG	ENST00000487840.1	+	0	46																											ggaggaggaagaggaggaggagg	0.389																																						ENST00000487840.1																			0																																																			0							g.chr3:149784483_149784485delGAG																													3.37:g.149784492_149784494delGAG														0	46	+									RNA	DEL	ENST00000487840.1	37																																																																																						0.389	RP11-167H9.4-003	KNOWN	basic	antisense	antisense	OTTHUMT00000357120.1			2	4						2	4	---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170783996	170783996	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:170783996delG	ENST00000436636.2	-	32	4323	c.3979delC	c.(3979-3981)ctafs	p.L1327fs	TNIK_ENST00000488470.1_Frame_Shift_Del_p.L1272fs|TNIK_ENST00000464785.1_5'Flank|TNIK_ENST00000284483.8_Frame_Shift_Del_p.L1319fs|TNIK_ENST00000369326.5_Frame_Shift_Del_p.L1305fs|TNIK_ENST00000475336.1_Frame_Shift_Del_p.L1235fs|TNIK_ENST00000538048.1_Frame_Shift_Del_p.L1279fs|TNIK_ENST00000341852.6_Frame_Shift_Del_p.L1243fs|TNIK_ENST00000460047.1_Frame_Shift_Del_p.L1264fs|TNIK_ENST00000470834.1_Frame_Shift_Del_p.L1290fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.L1298fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1327	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTTTCACATAGAAACTTTAAC	0.393																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(3979-3981)tafs		TRAF2 and NCK interacting kinase							148.0	147.0	147.0					3																	170783996		1871	4111	5982	SO:0001589	frameshift_variant	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170783996delG	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3979delC	3.37:g.170783996delG	ENSP00000399511:p.Leu1327fs					TNIK_ENST00000538048.1_Frame_Shift_Del_p.L1279fs|TNIK_ENST00000470834.1_Frame_Shift_Del_p.L1290fs|TNIK_ENST00000488470.1_Frame_Shift_Del_p.L1272fs|TNIK_ENST00000475336.1_Frame_Shift_Del_p.L1235fs|TNIK_ENST00000341852.6_Frame_Shift_Del_p.L1243fs|TNIK_ENST00000369326.5_Frame_Shift_Del_p.L1305fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.L1298fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.L1319fs|TNIK_ENST00000460047.1_Frame_Shift_Del_p.L1264fs	p.L1327fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		32	4323	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1327			CNH.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Frame_Shift_Del	DEL	ENST00000436636.2	37	c.3979delC	CCDS46956.1																																																																																				0.393	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		67	434						67	434	---	---	---	---
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-	rs369956607		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:4204225_4204229delTTGAG	ENST00000296358.4	-	4	700_704	c.676_680delCTCAA	c.(676-681)ctcaatfs	p.LN226fs		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	226					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.L226fs*1(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502																																						ENST00000296358.4																			1	Deletion - Frameshift(1)	p.L226fs*1(1)	liver(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(676-681)tfs		otopetrin 1																																				SO:0001589	frameshift_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4204225_4204229delTTGAG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.676_680delCTCAA	4.37:g.4204225_4204229delTTGAG	ENSP00000296358:p.Leu226fs						p.LN226fs	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	4	700_704	-			226					A1L476	Frame_Shift_Del	DEL	ENST00000296358.4	37	c.676_680delCTCAA	CCDS3372.1																																																																																				0.502	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		10	753						10	753	---	---	---	---
LINC01258	101928776	broad.mit.edu	37	4	38510151	38510156	+	lincRNA	DEL	ACACAC	ACACAC	-	rs60752803|rs72127167|rs10544854|rs71928420	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:38510151_38510156delACACAC	ENST00000512517.1	-	0	78				RP11-213G21.1_ENST00000507056.1_lincRNA																							TCACCCCAAAacacacacacacacac	0.447																																						ENST00000512517.1																			0																																																			0							g.chr4:38510151_38510156delACACAC																													4.37:g.38510157_38510162delACACAC														0	78	-									RNA	DEL	ENST00000512517.1	37																																																																																						0.447	RP11-83C7.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000360518.2			4	5						4	5	---	---	---	---
BTC	685	broad.mit.edu	37	4	75681140	75681140	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:75681140delG	ENST00000395743.3	-	3	570	c.210delC	c.(208-210)cccfs	p.P70fs		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	70	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitosis (GO:0045840)|positive regulation of urine volume (GO:0035810)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			TGTATTGCTTGGGGCACCTAG	0.473																																						ENST00000395743.3																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(208-210)ccfs		betacellulin							237.0	217.0	224.0					4																	75681140		2203	4300	6503	SO:0001589	frameshift_variant	685				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity	g.chr4:75681140delG	S55606	CCDS3566.1	4q13.3	2012-09-20			ENSG00000174808	ENSG00000174808			1121	protein-coding gene	gene with protein product		600345				8439318, 11522793	Standard	NM_001729		Approved		uc003hig.2	P35070	OTTHUMG00000130107	ENST00000395743.3:c.210delC	4.37:g.75681140delG	ENSP00000379092:p.Pro70fs						p.P70fs	NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	Lung(101;0.219)		3	570	-			70			EGF-like.		Q96F48	Frame_Shift_Del	DEL	ENST00000395743.3	37	c.210delC	CCDS3566.1																																																																																				0.473	BTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252413.1			7	1362						7	1362	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:134073569_134073571delCTG	ENST00000264360.5	+	1	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctctgc>ctc	p.C763del		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	763	Cys-rich.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2272-2277)ctc>ct		protocadherin 10																																				SO:0001651	inframe_deletion	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073569_134073571delCTG	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2274_2276delCTG	4.37:g.134073578_134073580delCTG	ENSP00000264360:p.Cys763del						p.LC758del	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3100_3102	+			758			Cys-rich.		Q4W5F6|Q96SF0	In_Frame_Del	DEL	ENST00000264360.5	37	c.2274_2276delCTG	CCDS34063.1																																																																																				0.581	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		7	358						7	358	---	---	---	---
LINC01060	401164	broad.mit.edu	37	4	189418894	189418895	+	lincRNA	DEL	AC	AC	-	rs375342526		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:189418894_189418895delAC	ENST00000510832.1	+	0	617									long intergenic non-protein coding RNA 1060																		CATCTGTTTTacacacacacac	0.376																																						ENST00000510832.1																			0																																																			0							g.chr4:189418894_189418895delAC			4q35.2	2013-08-23			ENSG00000249378	ENSG00000249378		"""Long non-coding RNAs"""	49081	non-coding RNA	RNA, long non-coding							Standard	NR_033869		Approved				OTTHUMG00000160242		4.37:g.189418904_189418905delAC														0	617	+									RNA	DEL	ENST00000510832.1	37																																																																																						0.376	LINC01060-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359857.1			4	6						4	6	---	---	---	---
LINC01331	104310351	broad.mit.edu	37	5	73804846	73804847	+	lincRNA	INS	-	-	C	rs145980478	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr5:73804846_73804847insC	ENST00000507781.1	-	0	307																											actatgtgatacctgcaccacc	0.515													CCC|CC|CCC|deletion	623	0.124401	0.261	0.0937	5008	,	,		16623	0.0139		0.0845	False		,,,				2504	0.1166					ENST00000507781.1																			0																																																			0							g.chr5:73804846_73804847insC																													5.37:g.73804848_73804848dupC														0	307	-									RNA	INS	ENST00000507781.1	37																																																																																						0.515	CTC-419K13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000368999.1			6	0						6	0	---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140230590	140230590	+	Intron	DEL	T	T	-	rs17844337		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr5:140230590delT	ENST00000532602.1	+	1	3427				PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Frame_Shift_Del_p.I837fs|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCAGCAGATTTTTTTTCTG	0.279																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(2509-2511)atfs									66.0	77.0	74.0					5																	140230590		2108	4207	6315	SO:0001627	intron_variant	0							g.chr5:140230590delT	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+116T>-	5.37:g.140230590delT						PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron	p.I837fs	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3234	+								O15053|Q2M3S5	Frame_Shift_Del	DEL	ENST00000532602.1	37	c.2510delT	CCDS54920.1																																																																																				0.279	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		11	1719						11	1719	---	---	---	---
HMGB3P22	729595	broad.mit.edu	37	5	179121146	179121151	+	RNA	DEL	AAAAAA	AAAAAA	-	rs544126756|rs55708497	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr5:179121146_179121151delAAAAAA	ENST00000442010.2	+	0	253									high mobility group box 3 pseudogene 22																		actccgtctcaaaaaaaaaaaaaaaa	0.485														4217	0.842053	0.6808	0.9063	5008	,	,		14866	0.9246		0.8966	False		,,,				2504	0.8732					ENST00000442010.2																			0																																																			0							g.chr5:179121146_179121151delAAAAAA			5q35.3	2011-09-21	2011-04-05		ENSG00000225051	ENSG00000225051		"""High mobility group / HMG-box pseudogenes"""	39314	pseudogene	pseudogene			"""high-mobility group box 3 pseudogene 22"""			12727900	Standard	NG_028953		Approved				OTTHUMG00000163166		5.37:g.179121152_179121157delAAAAAA														0	253	+									RNA	DEL	ENST00000442010.2	37																																																																																						0.485	HMGB3P22-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000371885.1			7	61						7	61	---	---	---	---
PPP1R17	10842	broad.mit.edu	37	7	31735179	31735179	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:31735179delA	ENST00000342032.3	+	3	807	c.179delA	c.(178-180)caafs	p.Q60fs	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	60					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										GAGTCAGACCAAAAAAAACCA	0.438																																						ENST00000342032.3																			0											c.(178-180)cafs		protein phosphatase 1, regulatory subunit 17			,	4,0,4260		0,0,4,0,0,2128	142.0	138.0	140.0		,	3.6	0.8	7		141	1,3,8250		0,0,1,0,3,4123	no	codingComplex,intron	C7orf16	NM_006658.4,NM_001145123.2	,	0,0,5,0,3,6251	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,0.0938,0.0639	,	,	31735179	5,3,12510	2203	4300	6503	SO:0001589	frameshift_variant	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31735179delA	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.179delA	7.37:g.31735179delA	ENSP00000340125:p.Gln60fs					PPP1R17_ENST00000409146.3_Intron	p.Q60fs	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN			3	807	+			60					B4DE58|Q9UDQ0	Frame_Shift_Del	DEL	ENST00000342032.3	37	c.179delA	CCDS5436.1																																																																																				0.438	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		7	869						7	869	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320|rs200076851|rs377514954		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										TTATTTGTCAAGgtgtgtgtgt	0.391																																						ENST00000436911.2																			0																																																			0							g.chr7:38284884_38284885insGG	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284885_38284886dupGG														0	330	-									RNA	INS	ENST00000436911.2	37																																																																																						0.391	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		40	716						40	716	---	---	---	---
STEAP4	79689	broad.mit.edu	37	7	87904916	87904917	+	IGR	DEL	GT	GT	-	rs553043080|rs67533133|rs144588030	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:87904916_87904917delGT	ENST00000380079.4	-	0	4451				AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000594469.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|CTB-167B5.2_ENST00000585152.1_lincRNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4						copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CTCTCATGGGgtgtgtgtgtgt	0.406														430	0.0858626	0.1581	0.0893	5008	,	,		15179	0.0595		0.0388	False		,,,				2504	0.0613					ENST00000600908.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr7:87904916_87904917delGT	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853		7.37:g.87904926_87904927delGT						AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000594469.1_RNA								0	93	+								Q658Q9|Q687X4|Q8WWB0|Q9H5R1	RNA	DEL	ENST00000380079.4	37		CCDS43611.1																																																																																				0.406	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		3	5						3	5	---	---	---	---
TRBV7-1	28597	broad.mit.edu	37	7	142032162	142032163	+	RNA	DEL	GA	GA	-	rs149220181|rs549861664	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:142032162_142032163delGA	ENST00000547918.2	+	0	82									T cell receptor beta variable 7-1 (non-functional)																		atgtgtgtgtgAGAGAGAGAGA	0.505																																						ENST00000547918.2																			0																																																			0							g.chr7:142032162_142032163delGA	X61444		7q34	2012-02-07	2008-09-12		ENSG00000211707	ENSG00000211707		"""T cell receptors / TRB locus"""	12235	other	T cell receptor gene			"""T cell receptor beta variable 7-1"""			8650574	Standard	NG_001333		Approved	TRBV71, TCRBV6S7P, TCRBV7S1			OTTHUMG00000158529		7.37:g.142032172_142032173delGA														0	82	+									RNA	DEL	ENST00000547918.2	37																																																																																						0.505	TRBV7-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351235.1	NG_001333		7	64						7	64	---	---	---	---
BMP1	649	broad.mit.edu	37	8	22020159	22020161	+	5'Flank	DEL	GTG	GTG	-	rs183533911	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr8:22020159_22020161delGTG	ENST00000306385.5	+	0	0				SFTPC_ENST00000521315.1_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|BMP1_ENST00000397814.3_5'Flank|BMP1_ENST00000306349.8_5'Flank|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron|BMP1_ENST00000397816.3_5'Flank|BMP1_ENST00000354870.5_5'Flank	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCTTCTTATCGTGGTGGTGGTGG	0.601																																						ENST00000521315.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(115-117)del		surfactant protein C																																				SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22020159_22020161delGTG		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22020168_22020170delGTG	Exception_encountered					SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000524255.1_Intron	p.V44del			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	147_149	+			44					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	In_Frame_Del	DEL	ENST00000306385.5	37	c.115_117delGTG	CCDS6026.1																																																																																				0.601	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		8	892						8	892	---	---	---	---
OSR2	116039	broad.mit.edu	37	8	99961401	99961402	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr8:99961401_99961402insG	ENST00000297565.4	+	2	717_718	c.221_222insG	c.(220-225)gcggcgfs	p.A75fs	OSR2_ENST00000457907.2_Frame_Shift_Ins_p.A196fs|OSR2_ENST00000435298.2_Frame_Shift_Ins_p.A75fs|OSR2_ENST00000523368.1_Frame_Shift_Ins_p.A75fs|OSR2_ENST00000522510.1_Frame_Shift_Ins_p.A75fs	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	75					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GAGATGGCGGCGGCGCAGGGCC	0.649																																						ENST00000297565.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(220-222)ggcfs		odd-skipped related transciption factor 2																																				SO:0001589	frameshift_variant	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99961401_99961402insG	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.223dupG	8.37:g.99961403_99961403dupG	ENSP00000297565:p.Ala75fs					OSR2_ENST00000435298.2_Frame_Shift_Ins_p.G74fs|OSR2_ENST00000523368.1_Frame_Shift_Ins_p.G74fs|OSR2_ENST00000457907.2_Frame_Shift_Ins_p.G195fs|OSR2_ENST00000522510.1_Frame_Shift_Ins_p.G74fs	p.G74fs	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		2	717_718	+	Breast(36;4.14e-07)		74					A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Frame_Shift_Ins	INS	ENST00000297565.4	37	c.221_222insG	CCDS47901.1																																																																																				0.649	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		7	750						7	750	---	---	---	---
KLHL38	340359	broad.mit.edu	37	8	124657755	124657756	+	IGR	INS	-	-	A	rs140124215	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr8:124657755_124657756insA	ENST00000325995.7	-	0	1982				CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						aAAGAAGGGGGAAAGACAGAGA	0.485													AGA|AAA|AAAA|complex_insertion	95	0.0189696	0.0038	0.0216	5008	,	,		17437	0.0		0.0557	False		,,,				2504	0.0194					ENST00000524355.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr8:124657755_124657756insA		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983		8.37:g.124657758_124657758dupA														0	244	+								A0PK12	RNA	INS	ENST00000325995.7	37		CCDS43766.1																																																																																				0.485	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			10	6						10	6	---	---	---	---
XPA	7507	broad.mit.edu	37	9	100455962	100455964	+	In_Frame_Del	DEL	TTC	TTC	-	rs3176652		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr9:100455962_100455964delTTC	ENST00000375128.4	-	2	314_316	c.250_252delGAA	c.(250-252)gaadel	p.E84del		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	84	Interaction with CEP164 and required for UV resistance.|Poly-Glu.				DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)	p.E84*(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CAATTTTCTGTTCTTCTTCTTCT	0.34			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000375128.4			yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group A"""			E		"""skin basal cell, skin squamous cell, melanoma"""			1	Substitution - Nonsense(1)	p.E84*(1)	large_intestine(1)	breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11						c.(250-252)del	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group A				171,4093		81,9,2042						3.6	0.0		dbSNP_105	102	360,7892		176,8,3942	no	coding	XPA	NM_000380.3		257,17,5984	A1A1,A1R,RR		4.3626,4.0103,4.2426				531,11985				SO:0001651	inframe_deletion	7507	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity	g.chr9:100455962_100455964delTTC	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.250_252delGAA	9.37:g.100455971_100455973delTTC	ENSP00000364270:p.Glu84del						p.E84del	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN			2	314_316	-		Acute lymphoblastic leukemia(62;0.158)	84			Interaction with CEP164 and required for UV resistance.|Poly-Glu.		Q5T1U9|Q6LCW7|Q6LD02	In_Frame_Del	DEL	ENST00000375128.4	37	c.250_252delGAA	CCDS6729.1																																																																																				0.340	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053332.1	NM_000380		8	531						8	531	---	---	---	---
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-	rs200468982	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588																																						ENST00000448048.2																			1	Deletion - In frame(1)	p.G37_A43delGDRMAGA(1)	central_nervous_system(1)	central_nervous_system(1)|lung(1)|ovary(1)	3						c.(106-129)gcg>gc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4				0,6		0,0,3						-2.8	0.0			1	28,40		13,2,19	no	coding	AGAP4	NM_133446.2		13,2,22	A1A1,A1R,RR		41.1765,0.0,37.8378				28,46				SO:0001651	inframe_deletion	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.108_128delTGGGGACAGGATGGCAGGAGC	10.37:g.46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENSP00000392513:p.Ala36_Gly42del					AGAP4_ENST00000430779.2_5'UTR	p.AGDRMAGA36del	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN			1	233_253	-			36						In_Frame_Del	DEL	ENST00000448048.2	37	c.108_128delTGGGGACAGGATGGCAGGAGC	CCDS7215.1																																																																																				0.588	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		9	41						9	41	---	---	---	---
PRKG1-AS1	100506939	broad.mit.edu	37	10	54069065	54069066	+	RNA	INS	-	-	TA	rs71490737|rs142220869|rs72167025|rs7917830	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:54069065_54069066insTA	ENST00000420193.1	-	0	721									PRKG1 antisense RNA 1																		AAAACAACCTCcacacacacac	0.391																																						ENST00000420193.1																			0																																																			0							g.chr10:54069065_54069066insTA	BC039504		10q21.1	2013-01-08			ENSG00000236671	ENSG00000236671		"""Long non-coding RNAs"""	45029	non-coding RNA	RNA, long non-coding							Standard	NR_038277		Approved		uc009xox.2		OTTHUMG00000018251		10.37:g.54069065_54069066insTA														0	721	-									RNA	INS	ENST00000420193.1	37																																																																																						0.391	PRKG1-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000048110.1	NR_038277		3	3						3	3	---	---	---	---
LINC01515	101928913	broad.mit.edu	37	10	67367559	67367559	+	lincRNA	DEL	T	T	-	rs147010788		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:67367559delT	ENST00000433152.4	+	0	706																											tctttctttctttttttcttt	0.393																																						ENST00000433152.3																			0																																																			0							g.chr10:67367559delT																													10.37:g.67367559delT														0	594	+									RNA	DEL	ENST00000433152.4	37																																																																																						0.393	RP11-222A11.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000048275.4			6	12						6	12	---	---	---	---
PRF1	5551	broad.mit.edu	37	10	72358622	72358624	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:72358622_72358624delCTT	ENST00000441259.1	-	3	1013_1015	c.853_855delAAG	c.(853-855)aagdel	p.K285del	PRF1_ENST00000373209.2_In_Frame_Del_p.K285del	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	285	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.		Missing (in FHL2). {ECO:0000269|PubMed:11179007}.		apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TCATCTTGTGCTTCTTCTTCTTC	0.591			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"""various leukaemia, lymphoma"""			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23	GRCh37	CD011186|CD080892	PRF1	D		c.(853-855)del		perforin 1 (pore forming protein)																																				SO:0001651	inframe_deletion	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358622_72358624delCTT	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.853_855delAAG	10.37:g.72358631_72358633delCTT	ENSP00000398568:p.Lys285del					PRF1_ENST00000373209.2_In_Frame_Del_p.K285del	p.K285del	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	1013_1015	-			285		Missing (in FHL2).	MACPF.		B2R6X4|Q59F57|Q86WX7	In_Frame_Del	DEL	ENST00000441259.1	37	c.853_855delAAG	CCDS7305.1																																																																																				0.591	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		9	647						9	647	---	---	---	---
ZNF503-AS1	253264	broad.mit.edu	37	10	77089193	77089196	+	lincRNA	DEL	CTTT	CTTT	-	rs71024539|rs140462291|rs35316102		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:77089193_77089196delCTTT	ENST00000416398.1	+	0	262				RP11-399K21.11_ENST00000418818.2_lincRNA	NR_038223.1				ZNF503 antisense RNA 1																		tccttccttcctttctttctttct	0.397																																						ENST00000416398.1																			0																																																			0							g.chr10:77089193_77089196delCTTT			10q22.2	2012-10-12	2012-08-15		ENSG00000226051	ENSG00000226051		"""Long non-coding RNAs"""	27370	non-coding RNA	RNA, long non-coding			"""ZNF503 antisense RNA 1 (non-protein coding)"""				Standard	NR_038223		Approved		uc001jxd.2		OTTHUMG00000018524		10.37:g.77089201_77089204delCTTT						RP11-399K21.11_ENST00000418818.2_lincRNA		NR_038223.1						0	262	+									RNA	DEL	ENST00000416398.1	37																																																																																						0.397	ZNF503-AS1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000048824.2			9	21						9	21	---	---	---	---
POLL	27343	broad.mit.edu	37	10	103345131	103345133	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:103345131_103345133delGGA	ENST00000370162.3	-	4	1007_1009	c.513_515delTCC	c.(511-516)cctccc>ccc	p.171_172PP>P	POLL_ENST00000370158.3_Intron|POLL_ENST00000370172.1_In_Frame_Del_p.83_84PP>P|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370169.1_In_Frame_Del_p.171_172PP>P|POLL_ENST00000456836.2_Intron|POLL_ENST00000339310.3_Intron|DPCD_ENST00000370148.2_5'Flank|POLL_ENST00000370168.3_5'Flank|POLL_ENST00000299206.4_In_Frame_Del_p.171_172PP>P|POLL_ENST00000436284.2_Intron|DPCD_ENST00000370151.4_5'Flank|DPCD_ENST00000370147.1_5'Flank	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	171					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGGCCTGGTGGGAGGAGGAGGAG	0.591								DNA polymerases (catalytic subunits)																														ENST00000370162.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19						c.(511-516)ccc>cc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda			,,	22,4242		11,0,2121					,,	-0.9	0.0			149	45,8209		19,7,4101	no	coding,coding,coding	POLL	NM_013274.3,NM_001174085.1,NM_001174084.1	,,	30,7,6222	A1A1,A1R,RR		0.5452,0.5159,0.5352	,,	,,		67,12451				SO:0001651	inframe_deletion	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103345131_103345133delGGA	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.513_515delTCC	10.37:g.103345140_103345142delGGA	ENSP00000359181:p.Pro172del					POLL_ENST00000370172.1_In_Frame_Del_p.PP83del|POLL_ENST00000299206.4_In_Frame_Del_p.PP171del|DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Intron|DPCD_ENST00000416979.2_Intron|POLL_ENST00000339310.3_Intron|POLL_ENST00000436284.2_Intron|POLL_ENST00000370158.3_Intron|POLL_ENST00000370169.1_In_Frame_Del_p.PP171del	p.PP171del	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	4	1007_1009	-		Colorectal(252;0.234)	171					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	In_Frame_Del	DEL	ENST00000370162.3	37	c.513_515delTCC	CCDS7513.1																																																																																				0.591	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		7	573						7	573	---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:103919000_103919002delAGC	ENST00000605788.1	+	6	893_895	c.658_660delAGC	c.(658-660)agcdel	p.S227del	NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000405356.1_In_Frame_Del_p.S227del	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517																																						ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(658-660)del		nucleolar and coiled-body phosphoprotein 1																																				SO:0001651	inframe_deletion	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103919000_103919002delAGC	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.658_660delAGC	10.37:g.103919009_103919011delAGC	ENSP00000474710:p.Ser227del					NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del	p.S227del			Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	6	893_895	+		Colorectal(252;0.122)	227			11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.		Q15030|Q5VV70|Q9BUV3	In_Frame_Del	DEL	ENST00000605788.1	37	c.658_660delAGC	CCDS7530.1																																																																																				0.517	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		9	1324						9	1324	---	---	---	---
TSPAN4	7106	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	CTG	-	rs61867552	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr11:864443_864445delCTG	ENST00000397404.1	+	5	521_523	c.262_264delCTG	c.(262-264)ctgdel	p.L92del	TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.65																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(262-264)del		tetraspanin 4																																				SO:0001651	inframe_deletion	0				protein complex assembly	integral to plasma membrane		g.chr11:864443_864445delCTG	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.262_264delCTG	11.37:g.864452_864454delCTG	ENSP00000380553:p.Leu92del					TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del	p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	521_523	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	92					Q6IAP6	In_Frame_Del	DEL	ENST00000397404.1	37	c.262_264delCTG	CCDS7721.1																																																																																				0.650	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			8	892						8	892	---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754|rs542581403|rs199786165	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cctcctaca>cca	p.PT470del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573																																						ENST00000256186.2																			2	Deletion - In frame(2)	p.T471delT(2)	upper_aerodigestive_tract(1)|skin(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1405-1413)cca>c		MICAL C-terminal like				494,2594		71,352,1121						-0.7	0.0		dbSNP_107	5	1955,4965		272,1411,1777	no	coding	MICALCL	NM_032867.2		343,1763,2898	A1A1,A1R,RR		28.2514,15.9974,24.4704				2449,7559				SO:0001651	inframe_deletion	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316384_12316389delCTCCTA	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1406_1411delCTCCTA	11.37:g.12316384_12316389delCTCCTA	ENSP00000256186:p.Pro470_Thr471del						p.PPT469del	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1697_1702	+			469			Poly-Pro.		Q7RTP7|Q96JU6	In_Frame_Del	DEL	ENST00000256186.2	37	c.1406_1411delCTCCTA	CCDS41620.1																																																																																				0.573	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		10	54						10	54	---	---	---	---
FADS2	9415	broad.mit.edu	37	11	61607885	61607887	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr11:61607885_61607887delTCC	ENST00000278840.4	+	3	1028_1030	c.398_400delTCC	c.(397-402)ttcctc>ttc	p.L137del	FADS2_ENST00000522056.1_In_Frame_Del_p.L106del|FADS2_ENST00000521849.1_In_Frame_Del_p.L137del|FADS2_ENST00000257261.6_In_Frame_Del_p.L115del	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	137				LLLL -> RTRG (in Ref. 9; CAB43280). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CACGTGTTCTTCCTCCTCCTCCT	0.537																																						ENST00000278840.4																			0				breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(397-402)ttc>t		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)																																			SO:0001651	inframe_deletion	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61607885_61607887delTCC	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.398_400delTCC	11.37:g.61607894_61607896delTCC	ENSP00000278840:p.Leu137del					FADS2_ENST00000522056.1_In_Frame_Del_p.FL102del|FADS2_ENST00000521849.1_In_Frame_Del_p.FL133del|FADS2_ENST00000257261.6_In_Frame_Del_p.FL111del	p.FL133del	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN			3	1028_1030	+			133					A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	In_Frame_Del	DEL	ENST00000278840.4	37	c.398_400delTCC	CCDS8012.1																																																																																				0.537	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		7	1326						7	1326	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs200787919|rs68192524|rs5003690		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AGGAACAAGTGGTGCCTAAGAA	0.416																																						ENST00000532855.1																			2	Insertion - Frameshift(2)	p.N211fs*20(2)	upper_aerodigestive_tract(1)|prostate(1)	autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)			3692,6		1844,4,1						-0.2	0.9		dbSNP_113	54	7905,5		3951,3,1	no	frameshift	MMP12	NM_002426.4		5795,7,2	A1A1,A1R,RR		0.0632,0.1622,0.0948				11597,11						4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738795_102738796insT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738795_102738796insT										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	725_726	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.416	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		10	53						10	53	---	---	---	---
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs11428482|rs374779752|rs17857448		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000546111.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1.0		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	7	92						7	92	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13154583	13154583	+	5'Flank	DEL	G	G	-	rs398076428|rs59113920	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:13154583delG	ENST00000014930.4	-	0	0				RP11-377D9.3_ENST00000543321.1_lincRNA|HEBP1_ENST00000536942.1_5'Flank	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1						circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TCTGCTGAGCGGGGGCCCCCG	0.731													GGGG|GGGGG|GGGG|insertion	2433	0.485823	0.3949	0.4986	5008	,	,		11429	0.378		0.6064	False		,,,				2504	0.5869					ENST00000543321.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr12:13154583delG	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771		12.37:g.13154583delG	Exception_encountered					HTR7P1_ENST00000535469.1_RNA								0	31	+								A8K1G2|Q9Y5Z5	RNA	DEL	ENST00000014930.4	37		CCDS31749.1																																																																																				0.731	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			6	9						6	9	---	---	---	---
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			8	1482						8	1482	---	---	---	---
TPT1-AS1	100190939	broad.mit.edu	37	13	45964344	45964344	+	RNA	DEL	A	A	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr13:45964344delA	ENST00000517509.1	+	0	1074				TPT1-AS1_ENST00000522673.1_RNA|TPT1-AS1_ENST00000520585.1_RNA|TPT1-AS1_ENST00000519454.1_RNA	NR_024458.1				TPT1 antisense RNA 1																		ATACTGAGCGAAAAACAATTT	0.358																																						ENST00000517509.1																			0																																																			0							g.chr13:45964344delA	AF318337		13q14.13	2012-10-12	2012-08-15		ENSG00000170919	ENSG00000170919		"""Long non-coding RNAs"""	43686	non-coding RNA	RNA, long non-coding			"""TPT1 antisense RNA 1 (non-protein coding)"""				Standard	NR_024458		Approved		uc021rjh.1		OTTHUMG00000016851		13.37:g.45964344delA						TPT1-AS1_ENST00000520585.1_RNA|TPT1-AS1_ENST00000519454.1_RNA|TPT1-AS1_ENST00000522673.1_RNA		NR_024458.1						0	1074	+									RNA	DEL	ENST00000517509.1	37																																																																																						0.358	TPT1-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000374919.1	NR_024458		8	33						8	33	---	---	---	---
RP11-248G5.8	0	broad.mit.edu	37	13	52783345	52783348	+	RNA	DEL	TGTG	TGTG	-	rs34078394|rs2094356|rs146333128|rs57648048|rs147130209		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr13:52783345_52783348delTGTG	ENST00000451298.1	-	0	1229																											AAAATTACACtgtgtgtgtgtgtg	0.402																																						ENST00000451298.1																			0																																																			0							g.chr13:52783345_52783348delTGTG																													13.37:g.52783353_52783356delTGTG						RP11-64P12.8_ENST00000606031.1_RNA								0	1229	-									RNA	DEL	ENST00000451298.1	37																																																																																						0.402	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			3	5						3	5	---	---	---	---
EXD2	55218	broad.mit.edu	37	14	69655247	69655247	+	5'Flank	DEL	T	T	-	rs398043806|rs34070983	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr14:69655247delT	ENST00000409018.3	+	0	0				RP11-363J20.1_ENST00000554898.1_lincRNA	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2								3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TCTCTCTCTCttttttttttt	0.483													|||unknown(HR)	4150	0.828674	0.8593	0.8112	5008	,	,		19049	0.9821		0.6362	False		,,,				2504	0.8395					ENST00000554898.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr14:69655247delT	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496		14.37:g.69655247delT	Exception_encountered													0	348	-								B4DIH6|G5E947|Q6AWB6|Q8N3D3	RNA	DEL	ENST00000409018.3	37		CCDS53902.1																																																																																				0.483	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			3	6						3	6	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96783571	96783572	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr14:96783571_96783572insT	ENST00000359933.4	-	20	4013_4014	c.3120_3121insA	c.(3118-3123)aaattafs	p.L1041fs		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1041					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGAGAGTCTAATTTTTTTTTCC	0.371																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(3118-3123)aatagafs		autophagy related 2B																																				SO:0001589	frameshift_variant	55102							g.chr14:96783571_96783572insT	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3121dupA	14.37:g.96783580_96783580dupT	ENSP00000353010:p.Leu1041fs						p.NR1040fs	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	20	4013_4014	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1040					Q6ZRE7|Q96DQ3|Q9NW80	Frame_Shift_Ins	INS	ENST00000359933.4	37	c.3120_3121insA	CCDS9944.2																																																																																				0.371	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		7	477						7	477	---	---	---	---
RP11-638I2.4	0	broad.mit.edu	37	14	100696020	100696021	+	RNA	DEL	GT	GT	-	rs398026373|rs35272708		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr14:100696020_100696021delGT	ENST00000554537.1	-	0	85																											CAgtgtgtgcgtgtgtgtgtgt	0.5																																						ENST00000554537.1																			0																																																			0							g.chr14:100696020_100696021delGT																													14.37:g.100696030_100696031delGT														0	85	-									RNA	DEL	ENST00000554537.1	37																																																																																						0.500	RP11-638I2.4-001	KNOWN	basic	antisense	antisense	OTTHUMT00000414045.1			8	5						8	5	---	---	---	---
ADAL	161823	broad.mit.edu	37	15	43641114	43641115	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr15:43641114_43641115insA	ENST00000562188.1	+	8	659_660	c.643_644insA	c.(643-645)caafs	p.Q215fs	ADAL_ENST00000422466.2_Frame_Shift_Ins_p.Q215fs|ADAL_ENST00000428046.3_Frame_Shift_Ins_p.Q188fs|ADAL_ENST00000389651.4_Frame_Shift_Ins_p.Q215fs			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	215					adenosine catabolic process (GO:0006154)|drug metabolic process (GO:0017144)|inosine biosynthetic process (GO:0046103)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	adenosine deaminase activity (GO:0004000)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GATTCCAAACCAAAAAAAAGAA	0.455																																						ENST00000422466.2																			0				endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7						c.(643-645)aaafs		adenosine deaminase-like																																				SO:0001589	frameshift_variant	161823				adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding	g.chr15:43641114_43641115insA		CCDS32214.1, CCDS53936.1	15q15.3	2014-08-08			ENSG00000168803	ENSG00000168803			31853	protein-coding gene	gene with protein product							Standard	NM_001012969		Approved		uc010udo.2	Q6DHV7	OTTHUMG00000176646	ENST00000562188.1:c.651dupA	15.37:g.43641122_43641122dupA	ENSP00000456242:p.Gln215fs					ADAL_ENST00000389651.4_Frame_Shift_Ins_p.K215fs|ADAL_ENST00000428046.3_Frame_Shift_Ins_p.K188fs|ADAL_ENST00000562188.1_Frame_Shift_Ins_p.K215fs	p.K215fs			Q6DHV7	ADAL_HUMAN		GBM - Glioblastoma multiforme(94;9.31e-07)	11	1217_1218	+		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	215					A6NHZ3|B4DQM8	Frame_Shift_Ins	INS	ENST00000562188.1	37	c.643_644insA																																																																																					0.455	ADAL-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432960.1	XM_091156		7	476						7	476	---	---	---	---
POLG	5428	broad.mit.edu	37	15	89876828	89876830	+	In_Frame_Del	DEL	TGC	TGC	-	rs527965158|rs587781117|rs573261648|rs369920352	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr15:89876828_89876830delTGC	ENST00000268124.5	-	2	489_491	c.156_158delGCA	c.(154-159)cagcaa>caa	p.52_53QQ>Q	RP11-217B1.2_ENST00000562356.1_RNA|POLG_ENST00000525806.1_5'Flank|RP11-217B1.2_ENST00000569473.1_RNA|POLG_ENST00000442287.2_In_Frame_Del_p.52_53QQ>Q	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	52	Poly-Gln.				aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			aggctgctgttgctgctgctgct	0.69								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(154-159)caa>ca	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma																																				SO:0001651	inframe_deletion	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89876828_89876830delTGC	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.156_158delGCA	15.37:g.89876837_89876839delTGC	ENSP00000268124:p.Gln55del					POLG_ENST00000442287.2_In_Frame_Del_p.QQ54del	p.QQ54del	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		2	489_491	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		54			Poly-Gln.		Q8NFM2|Q92515	In_Frame_Del	DEL	ENST00000268124.5	37	c.156_158delGCA	CCDS10350.1																																																																																				0.690	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		7	130						7	130	---	---	---	---
LINC01197	400456	broad.mit.edu	37	15	95835657	95835658	+	lincRNA	INS	-	-	AC	rs34489481|rs58476131|rs61072077|rs71281240|rs68176922		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr15:95835657_95835658insAC	ENST00000508732.2	-	0	271					NR_034095.1																						TATAATATTATacacacacaca	0.361																																						ENST00000508732.2																			0																																																			0							g.chr15:95835657_95835658insAC																													15.37:g.95835666_95835667dupAC								NR_034095.1						0	271	-									RNA	INS	ENST00000508732.2	37																																																																																						0.361	CTD-2536I1.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000415214.1			3	5						3	5	---	---	---	---
SMG1P3	100271836	broad.mit.edu	37	16	21469994	21469994	+	RNA	DEL	A	A	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr16:21469994delA	ENST00000520823.2	-	0	749				snoU13_ENST00000459321.1_RNA																							ACTGTACATTAAAAAAAAAAA	0.294																																						ENST00000520823.2																			0																																																			0							g.chr16:21469994delA																													16.37:g.21469994delA														0	749	-									RNA	DEL	ENST00000520823.2	37																																																																																						0.294	CTD-2547E10.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000378302.2			7	27						7	27	---	---	---	---
RP11-51O6.1	0	broad.mit.edu	37	16	61089302	61089302	+	RNA	DEL	C	C	-	rs567241949|rs56076856|rs371501468|rs61593494|rs201948984|rs78942570|rs572952892	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr16:61089302delC	ENST00000591758.1	-	0	566																											GCttcttcttctttttttttt	0.244																																						ENST00000591758.1																			0																																																			0							g.chr16:61089302delC																													16.37:g.61089302delC														0	566	-									RNA	DEL	ENST00000591758.1	37																																																																																						0.244	RP11-51O6.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000460612.1			7	194						7	194	---	---	---	---
ELMO3	79767	broad.mit.edu	37	16	67237464	67237484	+	In_Frame_Del	DEL	TCATTGCCCCCTCCAAGCGGG	TCATTGCCCCCTCCAAGCGGG	-	rs148378199|rs142297883	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr16:67237464_67237484delTCATTGCCCCCTCCAAGCGGG	ENST00000360833.1	+	18	2093_2113	c.2036_2056delTCATTGCCCCCTCCAAGCGGG	c.(2035-2058)ttcattgccccctccaagcgggag>tag	p.679_686FIAPSKRE>*	ELMO3_ENST00000393997.2_In_Frame_Del_p.696_703FIAPSKRE>*|ELMO3_ENST00000477898.1_In_Frame_Del_p.530_537FIAPSKRE>*|MIR328_ENST00000385213.1_RNA			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	643					apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TACCTCAACTTCATTGCCCCCTCCAAGCGGGAGGTGAGTGT	0.629																																						ENST00000393997.2																			0				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(2086-2109)tag>t		engulfment and cell motility 3																																				SO:0001651	inframe_deletion	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67237464_67237484delTCATTGCCCCCTCCAAGCGGG		CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"""Engulfment and cell motility proteins"""	17289	protein-coding gene	gene with protein product		606422	"""engulfment and cell motility 3 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.2036_2056delTCATTGCCCCCTCCAAGCGGG	16.37:g.67237464_67237484delTCATTGCCCCCTCCAAGCGGG	ENSP00000354077:p.Phe679_Glu686delins*					ELMO3_ENST00000477898.1_In_Frame_Del_p.FIAPSKRE530del|ELMO3_ENST00000360833.1_In_Frame_Del_p.FIAPSKRE679del	p.FIAPSKRE696del	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	19	2144_2164	+		Ovarian(137;0.0563)	643					B4DV86|Q9H8A5	In_Frame_Del	DEL	ENST00000360833.1	37	c.2087_2107delTCATTGCCCCCTCCAAGCGGG																																																																																					0.629	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000257667.2	NM_024712		28	436						28	436	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	CGG	-	rs376204328		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr17:7495872_7495874delCGG	ENST00000250113.7	-	15	2107_2109	c.1773_1775delCCG	c.(1771-1776)cgccgt>cgt	p.591_592RR>R	MPDU1_ENST00000423172.2_3'UTR|SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000250055.2_5'Flank|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000570788.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1771-1776)cgt>cg		fragile X mental retardation, autosomal homolog 2																																				SO:0001651	inframe_deletion	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7495872_7495874delCGG	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1773_1775delCCG	17.37:g.7495881_7495883delCGG	ENSP00000250113:p.Arg592del					MPDU1_ENST00000423172.2_3'UTR	p.RR591del	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	15	2107_2109	-			591		R -> P (in dbSNP:rs36013555).	Poly-Arg.		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	In_Frame_Del	DEL	ENST00000250113.7	37	c.1773_1775delCCG	CCDS45604.1																																																																																				0.547	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			9	1888						9	1888	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7801857	7801859	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr17:7801857_7801859delAAG	ENST00000330494.7	+	13	2245_2247	c.2095_2097delAAG	c.(2095-2097)aagdel	p.K703del	CHD3_ENST00000358181.4_In_Frame_Del_p.K703del|CHD3_ENST00000380358.4_In_Frame_Del_p.K762del	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	703	Poly-Lys.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCGCAAGTATAAGAAGAAGAAGA	0.488																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(2272-2274)del		chromodomain helicase DNA binding protein 3			,,	1,4263		0,1,2131					,,	-0.1	1.0			78	5,8249		0,5,4122	no	coding,coding,coding	CHD3	NM_005852.3,NM_001005273.2,NM_001005271.2	,,	0,6,6253	A1A1,A1R,RR		0.0606,0.0235,0.0479	,,	,,		6,12512				SO:0001651	inframe_deletion	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7801857_7801859delAAG	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2095_2097delAAG	17.37:g.7801866_7801868delAAG	ENSP00000332628:p.Lys703del					CHD3_ENST00000358181.4_In_Frame_Del_p.K703del|CHD3_ENST00000330494.7_In_Frame_Del_p.K703del	p.K762del	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			13	2273_2275	+		Prostate(122;0.202)	703			Helicase ATP-binding.		D3DTQ9|E9PG89|Q9Y4I0	In_Frame_Del	DEL	ENST00000330494.7	37	c.2272_2274delAAG	CCDS32554.1																																																																																				0.488	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		7	483						7	483	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12647692	12647694	+	In_Frame_Del	DEL	CAG	CAG	-	rs536181176	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr17:12647692_12647694delCAG	ENST00000343344.4	+	8	910_912	c.910_912delCAG	c.(910-912)cagdel	p.Q310del	AC005358.1_ENST00000609971.1_In_Frame_Del_p.Q214del|MYOCD_ENST00000425538.1_In_Frame_Del_p.Q310del|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	310	Gln-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATCCTCAGCcagcagcagcagc	0.596														27	0.00539137	0.0098	0.0029	5008	,	,		19180	0.001		0.001	False		,,,				2504	0.0102					ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(910-912)del		myocardin			,,	189,4075		0,189,1943					,,	3.1	1.0			38	472,7780		2,468,3656	no	coding,coding,coding	MYOCD	NM_153604.2,NM_001146313.1,NM_001146312.1	,,	2,657,5599	A1A1,A1R,RR		5.7198,4.4325,5.2812	,,	,,		661,11855				SO:0001651	inframe_deletion	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12647692_12647694delCAG	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.910_912delCAG	17.37:g.12647701_12647703delCAG	ENSP00000341835:p.Gln310del					MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del|MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del	p.Q310del	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	8	1110_1112	+			310			Gln-rich.		Q5UBU5|Q8N7Q1	In_Frame_Del	DEL	ENST00000343344.4	37	c.910_912delCAG	CCDS11163.1																																																																																				0.596	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		12	281						12	281	---	---	---	---
FAM210A	125228	broad.mit.edu	37	18	13681751	13681751	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr18:13681751delT	ENST00000322247.3	-	3	713	c.326delA	c.(325-327)aagfs	p.K109fs	FAM210A_ENST00000402563.1_Frame_Shift_Del_p.K109fs|FAM210A_ENST00000588475.1_5'UTR	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	109						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.K109fs*29(1)									AGGCTCTTCCTTTTTTTCCGG	0.433																																						ENST00000322247.3																			1	Deletion - Frameshift(1)	p.K109fs*29(1)	large_intestine(1)								c.(325-327)agfs		family with sequence similarity 210, member A																																				SO:0001589	frameshift_variant	125228					integral to membrane		g.chr18:13681751delT	AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 19"""	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.326delA	18.37:g.13681751delT	ENSP00000323635:p.Lys109fs					FAM210A_ENST00000402563.1_Frame_Shift_Del_p.K109fs|FAM210A_ENST00000588475.1_5'UTR	p.K109fs	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN			3	713	-			109					D3DUJ4	Frame_Shift_Del	DEL	ENST00000322247.3	37	c.326delA	CCDS11866.1																																																																																				0.433	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1	NM_152352		8	960						8	960	---	---	---	---
CTC-512J12.4	0	broad.mit.edu	37	19	44917435	44917436	+	RNA	INS	-	-	TCCG	rs190459210		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr19:44917435_44917436insTCCG	ENST00000588655.1	-	0	488																											TTCtccttccttctttccttcc	0.416																																						ENST00000588655.1																			0																																																			0							g.chr19:44917435_44917436insTCCG																													19.37:g.44917435_44917436insTCCG														0	488	-									RNA	INS	ENST00000588655.1	37																																																																																						0.416	CTC-512J12.4-001	KNOWN	NMD_likely_if_extended|basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000460829.1			7	42						7	42	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	CCT	-	rs62639328|rs557359374	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr19:46299165_46299167delCCT	ENST00000221538.3	-	6	2256_2258	c.2114_2116delAGG	c.(2113-2118)gagggc>ggc	p.E705del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.E441del|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2113-2118)ggc>g		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001651	inframe_deletion	81492					intracellular		g.chr19:46299165_46299167delCCT	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2114_2116delAGG	19.37:g.46299174_46299176delCCT	ENSP00000221538:p.Glu705del					RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del	p.EG705del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			6	2256_2258	-			705			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Del	DEL	ENST00000221538.3	37	c.2114_2116delAGG	CCDS12675.1																																																																																				0.586	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			10	1108						10	1108	---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50868836	50868838	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr19:50868836_50868838delGCA	ENST00000253719.2	-	1	249_251	c.41_43delTGC	c.(40-45)ctgcct>cct	p.L14del	CTB-191K22.6_ENST00000597049.1_RNA|NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	14					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TTcagcagaggcagcagcagcag	0.596																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(40-45)cct>c		napsin A aspartic peptidase																																				SO:0001651	inframe_deletion	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50868836_50868838delGCA	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.41_43delTGC	19.37:g.50868845_50868847delGCA	ENSP00000253719:p.Leu14del					NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	p.LP14del	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	1	249_251	-		all_neural(266;0.057)	14					Q8WWD9	In_Frame_Del	DEL	ENST00000253719.2	37	c.41_43delTGC	CCDS12794.1																																																																																				0.596	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		7	203						7	203	---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54780707	54780709	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr19:54780707_54780709delGAG	ENST00000391749.4	-	10	1706_1708	c.1435_1437delCTC	c.(1435-1437)ctcdel	p.L479del	LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391748.1_In_Frame_Del_p.L478del	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	479					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.L479L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggatgaggaagaggaggaggagg	0.611																																						ENST00000391748.1																			1	Substitution - coding silent(1)	p.L479L(1)	lung(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1432-1434)del		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2																																				SO:0001651	inframe_deletion	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54780707_54780709delGAG	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1435_1437delCTC	19.37:g.54780716_54780718delGAG	ENSP00000375629:p.Leu479del					LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del	p.L478del	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1559_1561	-	Ovarian(34;0.19)		479					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	In_Frame_Del	DEL	ENST00000391749.4	37	c.1432_1434delCTC	CCDS12886.1																																																																																				0.611	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			10	825						10	825	---	---	---	---
RPL23AP79	100271626	broad.mit.edu	37	19	59091278	59091279	+	RNA	INS	-	-	TTCC	rs201781447		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr19:59091278_59091279insTTCC	ENST00000493504.1	+	0	129					NR_026052.1				ribosomal protein L23a pseudogene 79																		CTCTATTttctttccttccttc	0.446																																						ENST00000493504.1																			0																																																			0							g.chr19:59091278_59091279insTTCC			19q13.4	2009-03-11							36226	pseudogene	pseudogene						19123937	Standard	NG_010019		Approved						19.37:g.59091283_59091286dupTTCC								NR_026052.1						0	129	+									RNA	INS	ENST00000493504.1	37																																																																																						0.446	RPL23AP79-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350753.1	NG_010019		8	20						8	20	---	---	---	---
SLC23A2	9962	broad.mit.edu	37	20	4850569	4850569	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr20:4850569delG	ENST00000379333.1	-	12	1625	c.1233delC	c.(1231-1233)cccfs	p.P411fs	SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs|SLC23A2_ENST00000468355.1_5'UTR|SNORA31_ENST00000516287.1_RNA|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	411					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.I412fs*4(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGCGTGGATGGGGGGGGGTG	0.527																																						ENST00000379333.1																			1	Deletion - Frameshift(1)	p.I412fs*4(1)	ovary(1)	endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1231-1233)ccfs		solute carrier family 23 (ascorbic acid transporter), member 2							65.0	70.0	68.0					20																	4850569		2203	4300	6503	SO:0001589	frameshift_variant	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4850569delG	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1233delC	20.37:g.4850569delG	ENSP00000368637:p.Pro411fs					SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs	p.P411fs	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN			12	1625	-			411					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Frame_Shift_Del	DEL	ENST00000379333.1	37	c.1233delC	CCDS13085.1																																																																																				0.527	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			20	619						20	619	---	---	---	---
ZHX3	23051	broad.mit.edu	37	20	39832962	39832962	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr20:39832962delT	ENST00000309060.3	-	4	1010	c.595delA	c.(595-597)attfs	p.I199fs	ZHX3_ENST00000559234.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000540170.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000544979.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000557816.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000432768.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000558993.1_Frame_Shift_Del_p.I199fs			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	199					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	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)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AGTGTATGAATTTTTTTGGCT	0.488																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(595-597)ttfs		zinc fingers and homeoboxes 3							108.0	106.0	107.0					20																	39832962		2203	4300	6503	SO:0001589	frameshift_variant	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39832962delT	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.595delA	20.37:g.39832962delT	ENSP00000312222:p.Ile199fs					ZHX3_ENST00000432768.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000544979.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000540170.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000557816.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000558993.1_Frame_Shift_Del_p.I199fs	p.I199fs			Q9H4I2	ZHX3_HUMAN			4	1010	-		Myeloproliferative disorder(115;0.00425)	199					E1P5W5|F5H820|O43145|Q6NUJ7	Frame_Shift_Del	DEL	ENST00000309060.3	37	c.595delA	CCDS13315.1																																																																																				0.488	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		8	847						8	847	---	---	---	---
APP	351	broad.mit.edu	37	21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr21:27394182_27394184delGTG	ENST00000346798.3	-	6	870_872	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_ENST00000357903.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000474136.1_5'UTR|APP_ENST00000354192.3_In_Frame_Del_p.223_224TT>T|APP_ENST00000448388.2_In_Frame_Del_p.244_245TT>T|APP_ENST00000359726.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000358918.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000348990.5_In_Frame_Del_p.279_280TT>T|APP_ENST00000439274.2_In_Frame_Del_p.223_224TT>T|APP_ENST00000440126.3_In_Frame_Del_p.274_275TT>T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(835-840)aca>ac		amyloid beta (A4) precursor protein																																				SO:0001651	inframe_deletion	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27394182_27394184delGTG	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.837_839delCAC	21.37:g.27394191_27394193delGTG	ENSP00000284981:p.Thr280del					APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000474136.1_5'UTR|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del	p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			6	1036_1038	-		Breast(209;0.00295)	279			Poly-Thr.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	In_Frame_Del	DEL	ENST00000346798.3	37	c.837_839delCAC	CCDS13576.1																																																																																				0.522	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		7	333						7	333	---	---	---	---
SLC5A3	6526	broad.mit.edu	37	21	35467569	35467569	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr21:35467569delT	ENST00000381151.3	+	2	584	c.72delT	c.(70-72)ggtfs	p.G24fs	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Frame_Shift_Del_p.G24fs			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	24		Implicated in sodium coupling. {ECO:0000250}.			inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TGTGCATTGGTTTTTTTGCCA	0.468																																						ENST00000381151.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(70-72)ggfs		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							195.0	188.0	191.0					21																	35467569		2203	4300	6503	SO:0001589	frameshift_variant	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35467569delT		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.72delT	21.37:g.35467569delT	ENSP00000370543:p.Gly24fs					MRPS6_ENST00000399312.2_Intron	p.G24fs	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	584	+			24				Implicated in sodium coupling (By similarity).	O43489	Frame_Shift_Del	DEL	ENST00000381151.3	37	c.72delT	CCDS33549.1																																																																																				0.468	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			7	972						7	972	---	---	---	---
TRAPPC10	7109	broad.mit.edu	37	21	45472274	45472275	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr21:45472274_45472275insA	ENST00000291574.4	+	4	574_575	c.399_400insA	c.(400-402)aaafs	p.K134fs	TRAPPC10_ENST00000380221.3_Frame_Shift_Ins_p.K134fs	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	134					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.K133N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ATGATGCCAAGAAAAAAAACAA	0.356																																						ENST00000291574.4																			1	Substitution - Missense(1)	p.K133N(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(397-402)aaaaaafs		trafficking protein particle complex 10																																				SO:0001589	frameshift_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45472274_45472275insA	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.407dupA	21.37:g.45472282_45472282dupA	ENSP00000291574:p.Lys134fs					TRAPPC10_ENST00000380221.3_Frame_Shift_Ins_p.KK133fs	p.KK133fs	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			4	574_575	+			133					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Frame_Shift_Ins	INS	ENST00000291574.4	37	c.399_400insA	CCDS13704.1																																																																																				0.356	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		9	706						9	706	---	---	---	---
BMS1P20	96610	broad.mit.edu	37	22	22661170	22661170	+	RNA	DEL	T	T	-	rs201084522|rs374690279	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr22:22661170delT	ENST00000426066.1	+	0	262					NR_027293.1				BMS1 pseudogene 20																		AGCATACAGGTTTTCCCCCCC	0.403													|||unknown(NO_COVERAGE)	147	0.029353	0.1074	0.0058	5008	,	,		20372	0.0		0.0	False		,,,				2504	0.001					ENST00000426066.1																			0																																																			0							g.chr22:22661170delT			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661170delT								NR_027293.1						0	262	+									RNA	DEL	ENST00000426066.1	37																																																																																						0.403	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			8	177						8	177	---	---	---	---
TFIP11	24144	broad.mit.edu	37	22	26906183	26906185	+	In_Frame_Del	DEL	TCA	TCA	-	rs145794160	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr22:26906183_26906185delTCA	ENST00000407690.1	-	4	337_339	c.54_56delTGA	c.(52-57)gatgac>gac	p.18_19DD>D	CTA-445C9.14_ENST00000565764.1_RNA|TFIP11_ENST00000407431.1_In_Frame_Del_p.18_19DD>D|TFIP11_ENST00000405938.1_In_Frame_Del_p.18_19DD>D|CTA-445C9.14_ENST00000566814.1_RNA|TFIP11_ENST00000407148.1_In_Frame_Del_p.18_19DD>D	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	18	Poly-Asp.|Required for interaction with DHX15.				biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTCCCGCTCGTCATCATCATCAT	0.532																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(52-57)gac>ga		tuftelin interacting protein 11			,	3,4261		1,1,2130					,	-10.5	0.0			93	1,8253		0,1,4126	no	coding,coding	TFIP11	NM_012143.2,NM_001008697.1	,	1,2,6256	A1A1,A1R,RR		0.0121,0.0704,0.032	,	,		4,12514				SO:0001651	inframe_deletion	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26906183_26906185delTCA	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.54_56delTGA	22.37:g.26906192_26906194delTCA	ENSP00000384421:p.Asp19del					TFIP11_ENST00000407431.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000407148.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000405938.1_In_Frame_Del_p.DD18del	p.DD18del	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			4	337_339	-			18			Poly-Asp.		O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	In_Frame_Del	DEL	ENST00000407690.1	37	c.54_56delTGA	CCDS13838.1																																																																																				0.532	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		9	612						9	612	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610776	42610778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr22:42610776_42610778delTGC	ENST00000359486.3	-	1	670_672	c.534_536delGCA	c.(532-537)cagcaa>caa	p.178_179QQ>Q	TCF20_ENST00000335626.4_In_Frame_Del_p.178_179QQ>Q	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	178	Poly-Gln.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTGGACTTGCTGCTGCTGCT	0.571																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(532-537)caa>ca		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610776_42610778delTGC	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.534_536delGCA	22.37:g.42610785_42610787delTGC	ENSP00000352463:p.Gln179del					TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del	p.QQ178del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	670_672	-			178			Poly-Gln.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.534_536delGCA	CCDS14033.1																																																																																				0.571	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		10	565						10	565	---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338154.6_In_Frame_Del_p.E795del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					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						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			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.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	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:54011405_54011407delCTC	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.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		9	524						9	524	---	---	---	---
RNA5-8SP6	100873336	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-	rs373540942		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chrY:10037863delC	ENST00000515896.1	+	0	100									RNA, 5.8S ribosomal pseudogene 6																		ATCGACACTTCGAACGCACTT	0.552																																						ENST00000515896.1																			0																																																			0							g.chrY:10037863delC			Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037863delC														0	100	+									RNA	DEL	ENST00000515896.1	37																																																																																						0.552	RNA5-8SP6-201	KNOWN	basic	rRNA	rRNA				7	91						7	91	---	---	---	---
