#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
DNAH11	8701	broad.mit.edu	37	7	21824082	21824082	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:21824082G>C	ENST00000409508.3	+	58	9552	c.9521G>C	c.(9520-9522)aGa>aCa	p.R3174T	DNAH11_ENST00000328843.6_Missense_Mutation_p.R3181T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3181	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGAAACAGAGAGAATGTGAA	0.413									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(9541-9543)aGa>aCa		dynein, axonemal, heavy chain 11							74.0	74.0	74.0					7																	21824082		1961	4156	6117	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21824082G>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9521G>C	7.37:g.21824082G>C	ENSP00000475939:p.Arg3174Thr					DNAH11_ENST00000409508.3_Missense_Mutation_p.R3174T	p.R3181T			Q96DT5	DYH11_HUMAN			59	9573	+			3181			Stalk (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.9542G>C		.	.	.	.	.	.	.	.	.	.	G	12.66	2.003295	0.35320	.	.	ENSG00000105877	ENST00000328843	T	0.74842	-0.88	5.97	3.07	0.35406	Dynein heavy chain, coiled coil stalk (1);	0.205967	0.49305	D	0.000144	T	0.71517	0.3349	.	.	.	0.24308	N	0.995092	P	0.48998	0.918	P	0.54856	0.762	T	0.59825	-0.7381	9	0.14656	T	0.56	.	7.9295	0.29893	0.4119:0.0:0.5881:0.0	.	3181	Q96DT5	DYH11_HUMAN	T	3181	ENSP00000330671:R3181T	ENSP00000330671:R3181T	R	+	2	0	DNAH11	21790607	0.004000	0.15560	0.917000	0.36280	0.760000	0.43138	0.175000	0.16762	0.355000	0.24131	0.655000	0.94253	AGA		0.413	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		3	28	0	0	0	1	0	3	28				
CHAF1B	8208	broad.mit.edu	37	21	37775114	37775114	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr21:37775114G>C	ENST00000314103.5	+	8	873	c.722G>C	c.(721-723)aGt>aCt	p.S241T		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	241					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CGTAGACTGAGTTTCACTCCC	0.443																																						ENST00000314103.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						c.(721-723)aGt>aCt		chromatin assembly factor 1, subunit B (p60)							223.0	207.0	213.0					21																	37775114		2203	4300	6503	SO:0001583	missense	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37775114G>C	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.722G>C	21.37:g.37775114G>C	ENSP00000315700:p.Ser241Thr						p.S241T	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN			8	873	+			241					Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	c.722G>C	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	G	0.160	-1.081826	0.01888	.	.	ENSG00000159259	ENST00000314103	T	0.66815	-0.23	4.51	4.51	0.55191	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.150903	0.56097	N	0.000021	T	0.44307	0.1287	N	0.04669	-0.19	0.36602	D	0.874746	B	0.06786	0.001	B	0.04013	0.001	T	0.51036	-0.8756	10	0.49607	T	0.09	-14.2662	12.7604	0.57361	0.0:0.3004:0.6996:0.0	.	241	Q13112	CAF1B_HUMAN	T	241	ENSP00000315700:S241T	ENSP00000315700:S241T	S	+	2	0	CHAF1B	36696984	1.000000	0.71417	0.762000	0.31397	0.080000	0.17528	5.103000	0.64578	2.233000	0.73108	0.456000	0.33151	AGT		0.443	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		46	227	0	0	0	1	0	46	227				
SPRY2	10253	broad.mit.edu	37	13	80911693	80911693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr13:80911693G>A	ENST00000377102.1	-	2	1125	c.148C>T	c.(148-150)Cga>Tga	p.R50*	SPRY2_ENST00000540649.1_Nonsense_Mutation_p.R50*|SPRY2_ENST00000377104.3_Nonsense_Mutation_p.R50*			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	50					bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		TTGGTGTTTCGGATGGCTCTG	0.612																																						ENST00000377102.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12						c.(148-150)Cga>Tga		sprouty homolog 2 (Drosophila)							111.0	109.0	109.0					13																	80911693		2203	4300	6503	SO:0001587	stop_gained	10253				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity	g.chr13:80911693G>A	AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158			11270	protein-coding gene	gene with protein product		602466	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005842		Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.148C>T	13.37:g.80911693G>A	ENSP00000366306:p.Arg50*					SPRY2_ENST00000540649.1_Nonsense_Mutation_p.R50*|SPRY2_ENST00000377104.3_Nonsense_Mutation_p.R50*	p.R50*			O43597	SPY2_HUMAN		GBM - Glioblastoma multiforme(99;0.0318)	2	1125	-	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)	50					B2R9J9|Q5T6Z7	Nonsense_Mutation	SNP	ENST00000377102.1	37	c.148C>T	CCDS9463.1	.	.	.	.	.	.	.	.	.	.	G	44	10.986181	0.99499	.	.	ENSG00000136158	ENST00000377104;ENST00000377102;ENST00000541655;ENST00000540649	.	.	.	5.44	4.59	0.56863	.	0.133715	0.48767	D	0.000170	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2083	0.48782	0.0:0.1384:0.7177:0.1439	.	.	.	.	X	50	.	ENSP00000366306:R50X	R	-	1	2	SPRY2	79809694	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.414000	0.52693	1.290000	0.44636	0.650000	0.86243	CGA		0.612	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1			4	145	0	0	0	1	0	4	145				
RHOT1	55288	broad.mit.edu	37	17	30520157	30520157	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr17:30520157G>T	ENST00000333942.6	+	10	881	c.642G>T	c.(640-642)agG>agT	p.R214S	RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000581094.1_Missense_Mutation_p.R214S|RHOT1_ENST00000583994.1_Missense_Mutation_p.R87S|RHOT1_ENST00000394692.2_Missense_Mutation_p.R214S|RHOT1_ENST00000545287.2_Missense_Mutation_p.R214S|RHOT1_ENST00000358365.3_Missense_Mutation_p.R214S|RHOT1_ENST00000354266.3_Missense_Mutation_p.R193S	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	214	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TTTGCTAGAGGATTTGTTTCA	0.333																																						ENST00000358365.3																			0				NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(640-642)agG>agT		ras homolog family member T1							69.0	68.0	68.0					17																	30520157		2203	4300	6503	SO:0001583	missense	55288				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr17:30520157G>T	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.642G>T	17.37:g.30520157G>T	ENSP00000334724:p.Arg214Ser					RHOT1_ENST00000581094.1_Missense_Mutation_p.R214S|RHOT1_ENST00000545287.2_Missense_Mutation_p.R214S|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000394692.2_Missense_Mutation_p.R214S|RHOT1_ENST00000354266.3_Missense_Mutation_p.R193S|RHOT1_ENST00000333942.6_Missense_Mutation_p.R214S|RHOT1_ENST00000583994.1_Missense_Mutation_p.R87S	p.R214S	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN			10	869	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	214			EF-hand 1.		A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	c.642G>T	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645544	0.29246	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942;ENST00000545287	T;T;T;T	0.10288	2.89;2.89;2.89;2.89	5.59	3.38	0.38709	EF-hand-like domain (1);	0.133886	0.64402	D	0.000002	T	0.08133	0.0203	L	0.35593	1.075	0.80722	D	1	B;B;B;B	0.18741	0.03;0.009;0.016;0.03	B;B;B;B	0.18561	0.02;0.006;0.022;0.02	T	0.26710	-1.0095	10	0.30854	T	0.27	-12.8294	7.9045	0.29755	0.7703:0.0:0.2297:0.0	.	214;214;214;214	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	S	214	ENSP00000351132:R214S;ENSP00000378184:R214S;ENSP00000334724:R214S;ENSP00000439737:R214S	ENSP00000334724:R214S	R	+	3	2	RHOT1	27544270	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.376000	0.44292	0.415000	0.25817	-0.373000	0.07131	AGG		0.333	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		11	47	1	0	1.58986e-06	1	1.63955e-06	11	47				
IFIH1	64135	broad.mit.edu	37	2	163133214	163133214	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr2:163133214A>C	ENST00000263642.2	-	11	2682	c.2287T>G	c.(2287-2289)Ttc>Gtc	p.F763V		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	763	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATGGGTTTGAACTCACTGCTG	0.398																																						ENST00000263642.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						c.(2287-2289)Ttc>Gtc		interferon induced with helicase C domain 1							190.0	188.0	189.0					2																	163133214		2203	4300	6503	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163133214A>C	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2287T>G	2.37:g.163133214A>C	ENSP00000263642:p.Phe763Val						p.F763V	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN			11	2682	-			763			Helicase C-terminal.		Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.2287T>G	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	A	4.276	0.050388	0.08243	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.04454	3.62	5.55	4.38	0.52667	Helicase, C-terminal (2);	0.218113	0.47455	N	0.000231	T	0.01695	0.0054	N	0.01188	-0.97	0.29916	N	0.823133	B	0.06786	0.001	B	0.10450	0.005	T	0.38222	-0.9671	10	0.13108	T	0.6	-10.1172	8.1273	0.31005	0.7294:0.134:0.0:0.1366	.	763	Q9BYX4	IFIH1_HUMAN	V	763	ENSP00000263642:F763V	ENSP00000263642:F763V	F	-	1	0	IFIH1	162841460	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.487000	0.45268	0.906000	0.36621	0.533000	0.62120	TTC		0.398	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		12	62	0	0	0	1	0	12	62				
INSRR	3645	broad.mit.edu	37	1	156815851	156815851	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:156815851C>T	ENST00000368195.3	-	9	2267	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	624	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGCTTCCAGCGCACCAGGAG	0.622																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1870-1872)cGc>cAc		insulin receptor-related receptor							92.0	91.0	91.0					1																	156815851		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156815851C>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1871G>A	1.37:g.156815851C>T	ENSP00000357178:p.Arg624His					NTRK1_ENST00000392302.2_Intron	p.R624H	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			9	2267	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		624			Fibronectin type-III 2.		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.1871G>A	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939014	0.73557	.	.	ENSG00000027644	ENST00000368195	T	0.72282	-0.64	4.74	4.74	0.60224	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000154	T	0.80154	0.4571	.	.	.	0.37699	D	0.924138	D	0.89917	1.0	D	0.65874	0.939	T	0.82916	-0.0220	9	0.72032	D	0.01	.	15.6024	0.76634	0.0:1.0:0.0:0.0	.	624	P14616	INSRR_HUMAN	H	624	ENSP00000357178:R624H	ENSP00000357178:R624H	R	-	2	0	INSRR	155082475	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.947000	0.40293	2.630000	0.89119	0.561000	0.74099	CGC		0.622	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		16	69	0	0	0	1	0	16	69				
SLC26A9	115019	broad.mit.edu	37	1	205896383	205896383	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:205896383T>G	ENST00000367135.3	-	11	1362	c.1249A>C	c.(1249-1251)Atc>Ctc	p.I417L	SLC26A9_ENST00000340781.4_Missense_Mutation_p.I417L|SLC26A9_ENST00000367134.2_Missense_Mutation_p.I417L	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	417					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGCATGGTGATCATCACCACC	0.483																																						ENST00000367135.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(1249-1251)Atc>Ctc		solute carrier family 26 (anion exchanger), member 9							114.0	108.0	110.0					1																	205896383		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205896383T>G	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1249A>C	1.37:g.205896383T>G	ENSP00000356103:p.Ile417Leu					SLC26A9_ENST00000367134.2_Missense_Mutation_p.I417L|SLC26A9_ENST00000340781.4_Missense_Mutation_p.I417L	p.I417L	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		11	1362	-	Breast(84;0.201)		417					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.1249A>C	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	T	5.754	0.323524	0.10900	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.92048	-2.96;-2.96;-2.96	5.12	1.45	0.22620	Sulphate transporter (1);	0.225466	0.34435	N	0.003968	T	0.80999	0.4732	N	0.21373	0.66	0.31451	N	0.670702	B;B	0.34103	0.19;0.437	B;B	0.32805	0.109;0.153	T	0.74748	-0.3560	10	0.02654	T	1	.	9.1281	0.36828	0.0:0.4216:0.0:0.5784	.	417;417	Q7LBE3;B1AVM8	S26A9_HUMAN;.	L	417	ENSP00000341682:I417L;ENSP00000356103:I417L;ENSP00000356102:I417L	ENSP00000341682:I417L	I	-	1	0	SLC26A9	204163006	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	0.194000	0.17135	0.053000	0.16036	0.459000	0.35465	ATC		0.483	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		5	139	0	0	0	1	0	5	139				
WDR24	84219	broad.mit.edu	37	16	739166	739166	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:739166A>T	ENST00000248142.6	-	3	660	c.661T>A	c.(661-663)Ttc>Atc	p.F221I	WDR24_ENST00000293883.4_Missense_Mutation_p.F159I|LA16c-313D11.12_ENST00000566927.1_RNA			Q96S15	WDR24_HUMAN	WD repeat domain 24	221										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TCACCCGAGAAGGTGCTGACA	0.632																																						ENST00000293883.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19						c.(475-477)Ttc>Atc		WD repeat domain 24							61.0	59.0	60.0					16																	739166		2200	4300	6500	SO:0001583	missense	84219							g.chr16:739166A>T	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.661T>A	16.37:g.739166A>T	ENSP00000248142:p.Phe221Ile					WDR24_ENST00000248142.6_Missense_Mutation_p.F221I	p.F159I	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN			1	1234	-		Hepatocellular(780;0.0218)	221					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37	c.475T>A		.	.	.	.	.	.	.	.	.	.	A	19.77	3.889504	0.72524	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.79940	-1.32;1.63	5.14	5.14	0.70334	.	0.314257	0.35013	N	0.003510	D	0.89462	0.6722	M	0.83223	2.63	0.51482	D	0.999927	D	0.71674	0.998	D	0.68353	0.957	D	0.91002	0.4843	10	0.72032	D	0.01	-17.4959	14.1306	0.65250	1.0:0.0:0.0:0.0	.	159	Q96S15-2	.	I	221;159	ENSP00000248142:F221I;ENSP00000293883:F159I	ENSP00000248142:F221I	F	-	1	0	WDR24	679167	1.000000	0.71417	0.995000	0.50966	0.937000	0.57800	8.638000	0.91019	1.936000	0.56123	0.459000	0.35465	TTC		0.632	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		40	84	0	0	0	1	0	40	84				
MUC4	4585	broad.mit.edu	37	3	195511870	195511870	+	Missense_Mutation	SNP	G	G	A	rs201707483	byFrequency	TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr3:195511870G>A	ENST00000463781.3	-	2	7040	c.6581C>T	c.(6580-6582)cCt>cTt	p.P2194L	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2194L|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	983					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTCGGTGACAGGAAGAGGGGT	0.592													.|||	178	0.0355431	0.0189	0.0403	5008	,	,		15574	0.0		0.0905	False		,,,				2504	0.0348					ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6580-6582)cCt>cTt		mucin 4, cell surface associated							12.0	16.0	15.0					3																	195511870		644	1553	2197	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511870G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6581C>T	3.37:g.195511870G>A	ENSP00000417498:p.Pro2194Leu					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2194L|MUC4_ENST00000349607.4_Intron	p.P2194L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	7040	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	983					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.6581C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	G	3.854	-0.031304	0.07543	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31510	1.5;1.49	.	.	.	.	.	.	.	.	T	0.29158	0.0725	N	0.19112	0.55	0.09310	N	1	D	0.57257	0.979	D	0.63488	0.915	T	0.17018	-1.0383	7	.	.	.	.	4.7077	0.12858	1.0E-4:0.0:0.6463:0.3536	.	2194	E7ESK3	.	L	2194	ENSP00000417498:P2194L;ENSP00000420243:P2194L	.	P	-	2	0	MUC4	196996265	0.001000	0.12720	0.002000	0.10522	0.155000	0.21991	0.174000	0.16743	-0.833000	0.04245	0.064000	0.15345	CCT		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	13	0	0	0	1	0	4	13				
CYP4F12	66002	broad.mit.edu	37	19	15807863	15807863	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr19:15807863C>T	ENST00000550308.1	+	13	1923	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R515W	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	515					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GCTTTGGCTGCGGGTGGAGCC	0.567																																						ENST00000550308.1																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(1543-1545)Cgg>Tgg		cytochrome P450, family 4, subfamily F, polypeptide 12							58.0	64.0	62.0					19																	15807863		2187	4299	6486	SO:0001583	missense	66002							g.chr19:15807863C>T	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1543C>T	19.37:g.15807863C>T	ENSP00000448998:p.Arg515Trp					CYP4F12_ENST00000324632.9_Missense_Mutation_p.R515W	p.R515W	NM_023944.3	NP_076433.3					13	1923	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.1543C>T	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	7.143	0.582198	0.13749	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.80653	-1.4;-1.4	2.31	1.27	0.21489	.	0.293900	0.27554	U	0.018856	T	0.80363	0.4609	M	0.88640	2.97	0.30998	N	0.720611	B	0.25772	0.134	B	0.27715	0.082	T	0.77811	-0.2449	10	0.59425	D	0.04	.	6.9546	0.24563	0.0:0.8482:0.0:0.1518	.	515	Q9HCS2	CP4FC_HUMAN	W	515	ENSP00000448998:R515W;ENSP00000321821:R515W	ENSP00000321821:R515W	R	+	1	2	CYP4F12	15668863	0.978000	0.34361	0.452000	0.26994	0.009000	0.06853	2.488000	0.45276	0.529000	0.28599	0.313000	0.20887	CGG		0.567	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			24	101	0	0	0	1	0	24	101				
TNS3	64759	broad.mit.edu	37	7	47407972	47407972	+	Silent	SNP	G	G	A	rs373110561		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:47407972G>A	ENST00000398879.1	-	17	2637	c.2271C>T	c.(2269-2271)acC>acT	p.T757T	TNS3_ENST00000311160.9_Silent_p.T757T|TNS3_ENST00000355730.3_Silent_p.T517T			Q68CZ2	TENS3_HUMAN	tensin 3	757					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTTGCCGCCCGGTGGCCCTGC	0.632																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(2269-2271)acC>acT		tensin 3		G		0,3952		0,0,1976	93.0	106.0	102.0		2271	-7.5	0.0	7		102	1,8307		0,1,4153	no	coding-synonymous	TNS3	NM_022748.11		0,1,6129	AA,AG,GG		0.012,0.0,0.0082		757/1446	47407972	1,12259	1976	4154	6130	SO:0001819	synonymous_variant	64759					focal adhesion	protein binding	g.chr7:47407972G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2271C>T	7.37:g.47407972G>A						TNS3_ENST00000311160.9_Silent_p.T757T|TNS3_ENST00000355730.3_Silent_p.T517T	p.T757T			Q68CZ2	TENS3_HUMAN			17	2637	-			757					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	c.2271C>T	CCDS5506.2																																																																																				0.632	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		61	219	0	0	0	1	0	61	219				
ITPR3	3710	broad.mit.edu	37	6	33632727	33632727	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr6:33632727A>G	ENST00000374316.5	+	13	2289	c.1229A>G	c.(1228-1230)gAg>gGg	p.E410G	ITPR3_ENST00000605930.1_Missense_Mutation_p.E410G			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	410	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	ATCGAGGAGGAGCGGCCCATC	0.667																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1228-1230)gAg>gGg		inositol 1,4,5-trisphosphate receptor, type 3							60.0	55.0	57.0					6																	33632727		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33632727A>G	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1229A>G	6.37:g.33632727A>G	ENSP00000363435:p.Glu410Gly					ITPR3_ENST00000605930.1_Missense_Mutation_p.E410G	p.E410G			Q14573	ITPR3_HUMAN			13	2289	+			410			MIR 5.		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.1229A>G	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.118013	0.56505	.	.	ENSG00000096433	ENST00000374316	D	0.90444	-2.67	4.97	4.97	0.65823	MIR motif (1);MIR (2);	0.117370	0.64402	D	0.000020	D	0.93766	0.8007	M	0.83953	2.67	0.51767	D	0.999938	D	0.76494	0.999	D	0.74023	0.982	D	0.94186	0.7436	10	0.56958	D	0.05	-17.6412	11.2544	0.49045	0.8473:0.1527:0.0:0.0	.	410	Q14573	ITPR3_HUMAN	G	410	ENSP00000363435:E410G	ENSP00000363435:E410G	E	+	2	0	ITPR3	33740705	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	9.094000	0.94168	1.867000	0.54127	0.377000	0.23210	GAG		0.667	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		25	45	0	0	0	1	0	25	45				
ABL2	27	broad.mit.edu	37	1	179084144	179084144	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:179084144T>A	ENST00000502732.1	-	9	1633	c.1430A>T	c.(1429-1431)gAa>gTa	p.E477V	ABL2_ENST00000511413.1_Missense_Mutation_p.E477V|ABL2_ENST00000344730.3_Missense_Mutation_p.E462V|ABL2_ENST00000367623.4_Missense_Mutation_p.E456V|ABL2_ENST00000504405.1_Missense_Mutation_p.E441V|ABL2_ENST00000507173.1_Missense_Mutation_p.E456V|ABL2_ENST00000392043.3_Missense_Mutation_p.E456V|ABL2_ENST00000512653.1_Missense_Mutation_p.E462V|ABL2_ENST00000408940.3_Missense_Mutation_p.E441V	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	477	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GGTAGCAATTTCCCACAACAA	0.378			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(1429-1431)gAa>gTa		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						110.0	108.0	108.0					1																	179084144		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179084144T>A	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1430A>T	1.37:g.179084144T>A	ENSP00000427562:p.Glu477Val					ABL2_ENST00000367623.4_Missense_Mutation_p.E456V|ABL2_ENST00000344730.3_Missense_Mutation_p.E462V|ABL2_ENST00000512653.1_Missense_Mutation_p.E462V|ABL2_ENST00000392043.3_Missense_Mutation_p.E456V|ABL2_ENST00000511413.1_Missense_Mutation_p.E477V|ABL2_ENST00000507173.1_Missense_Mutation_p.E456V|ABL2_ENST00000408940.3_Missense_Mutation_p.E441V|ABL2_ENST00000504405.1_Missense_Mutation_p.E441V	p.E477V	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN			9	1633	-			477			Protein kinase.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.1430A>T	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.912279	0.92178	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	D;D;D;D;D;D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49	5.99	5.99	0.97316	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000052	D	0.98124	0.9381	H	0.95437	3.67	0.80722	D	1	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;0.997;0.997;0.999;0.998;1.0;1.0;1.0;0.998	D	0.99316	1.0905	10	0.87932	D	0	.	15.6531	0.77112	0.0:0.0:0.0:1.0	.	456;456;477;441;456;477;462;441;462	P42684-6;P42684-7;P42684-5;P42684-4;P42684-8;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;ABL2_HUMAN;.;.;.	V	477;441;462;462;441;456;456;477;456	ENSP00000427562:E477V;ENSP00000386152:E441V;ENSP00000339209:E462V;ENSP00000423578:E462V;ENSP00000426831:E441V;ENSP00000356595:E456V;ENSP00000423413:E456V;ENSP00000424697:E477V;ENSP00000375897:E456V	ENSP00000339209:E462V	E	-	2	0	ABL2	177350767	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.980000	0.88113	2.292000	0.77174	0.482000	0.46254	GAA		0.378	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		18	96	0	0	0	1	0	18	96				
KIF2B	84643	broad.mit.edu	37	17	51902246	51902246	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr17:51902246C>A	ENST00000268919.4	+	1	2008	c.1852C>A	c.(1852-1854)Caa>Aaa	p.Q618K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	618					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGGATCTAGCCAATGGCTGGA	0.443																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(1852-1854)Caa>Aaa		kinesin family member 2B							165.0	153.0	157.0					17																	51902246		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51902246C>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1852C>A	17.37:g.51902246C>A	ENSP00000268919:p.Gln618Lys						p.Q618K	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	2008	+			618					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1852C>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	0.801	-0.755268	0.03019	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.72835	-0.69	5.51	2.29	0.28610	.	0.214583	0.23155	N	0.051304	T	0.47507	0.1449	N	0.24115	0.695	0.09310	N	1	B	0.25521	0.128	B	0.23018	0.043	T	0.33803	-0.9854	10	0.05351	T	0.99	.	8.4502	0.32866	0.0:0.5969:0.3216:0.0815	.	618	Q8N4N8	KIF2B_HUMAN	K	618;506	ENSP00000268919:Q618K	ENSP00000268919:Q618K	Q	+	1	0	KIF2B	49257245	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.429000	0.21412	0.317000	0.23160	0.655000	0.94253	CAA		0.443	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		22	105	1	0	3.7963e-18	1	4.24671e-18	22	105				
MORC2	22880	broad.mit.edu	37	22	31330834	31330834	+	Silent	SNP	A	A	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr22:31330834A>C	ENST00000397641.3	-	19	2535	c.2127T>G	c.(2125-2127)gtT>gtG	p.V709V	MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000215862.4_Silent_p.V647V|MORC2_ENST00000469915.1_5'Flank			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	709						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGGGAGAAGGAACCTCCCGAG	0.552																																						ENST00000215862.4																			0				breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.(1939-1941)gtT>gtG		MORC family CW-type zinc finger 2							113.0	120.0	118.0					22																	31330834		2203	4300	6503	SO:0001819	synonymous_variant	22880						ATP binding|zinc ion binding	g.chr22:31330834A>C	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2127T>G	22.37:g.31330834A>C						MORC2_ENST00000397641.2_Silent_p.V709V	p.V647V	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN			20	3304	-			709					B2RNB1|Q9UF28|Q9Y6V2	Silent	SNP	ENST00000397641.3	37	c.1941T>G																																																																																					0.552	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		69	214	0	0	0	1	0	69	214				
MAP2K5	5607	broad.mit.edu	37	15	67878228	67878228	+	Splice_Site	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr15:67878228C>T	ENST00000178640.5	+	5	950	c.323C>T	c.(322-324)gCc>gTc	p.A108V	MAP2K5_ENST00000395476.2_Splice_Site_p.A108V|MAP2K5_ENST00000560591.1_3'UTR|MAP2K5_ENST00000354498.5_Splice_Site_p.A72V	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	108					activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						ACTGTTTCAGCCTGCAAGCCT	0.373																																						ENST00000178640.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						c.e5-1		mitogen-activated protein kinase kinase 5							143.0	124.0	130.0					15																	67878228		2200	4298	6498	SO:0001630	splice_region_variant	5607				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:67878228C>T	U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.323-1C>T	15.37:g.67878228C>T						MAP2K5_ENST00000395476.2_Splice_Site_p.A108_splice|MAP2K5_ENST00000560591.1_3'UTR|MAP2K5_ENST00000354498.5_Splice_Site_p.A72_splice	p.A108_splice	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN			5	950	+			108					B4DE43|Q92961|Q92962	Splice_Site	SNP	ENST00000178640.5	37	c.322_splice	CCDS10224.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.416045	0.62511	.	.	ENSG00000137764	ENST00000541298;ENST00000395476;ENST00000178640;ENST00000354498;ENST00000439036	T;T;T;T	0.72505	-0.46;-0.66;-0.62;0.73	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	L	0.32530	0.975	0.80722	D	1	B;B;B;B	0.33022	0.15;0.394;0.128;0.15	B;B;B;B	0.30782	0.027;0.12;0.039;0.041	T	0.58289	-0.7662	9	.	.	.	.	19.3031	0.94150	0.0:1.0:0.0:0.0	.	72;108;108;108	B4DE43;Q13163-2;Q13163;B2RD76	.;.;MP2K5_HUMAN;.	V	108;108;108;72;41	ENSP00000378859:A108V;ENSP00000178640:A108V;ENSP00000346493:A72V;ENSP00000390196:A41V	.	A	+	2	0	MAP2K5	65665282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.576000	0.86940	0.467000	0.42956	GCC		0.373	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257041.1	NM_145162	Missense_Mutation	8	71	0	0	0	1	0	8	71				
PTPRZ1	5803	broad.mit.edu	37	7	121693973	121693973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:121693973C>T	ENST00000393386.2	+	26	6673	c.6262C>T	c.(6262-6264)Cag>Tag	p.Q2088*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.Q1221*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2088	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGGCTATTACCAGAGCAATGA	0.403																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(6262-6264)Cag>Tag		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							182.0	178.0	179.0					7																	121693973		2203	4300	6503	SO:0001587	stop_gained	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121693973C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.6262C>T	7.37:g.121693973C>T	ENSP00000377047:p.Gln2088*					PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.Q1221*	p.Q2088*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			26	6673	+			2088			Tyrosine-protein phosphatase 2.		A4D0W5|C9JFM0|O76043|Q9UDR6	Nonsense_Mutation	SNP	ENST00000393386.2	37	c.6262C>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	42	9.407764	0.99163	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	.	.	.	5.67	5.67	0.87782	.	0.090608	0.47455	D	0.000224	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.2721	0.73712	0.0:0.8604:0.1396:0.0	.	.	.	.	X	2088;1221	.	ENSP00000377047:Q2088X	Q	+	1	0	PTPRZ1	121481209	0.856000	0.29760	1.000000	0.80357	0.960000	0.62799	1.521000	0.35910	2.665000	0.90641	0.591000	0.81541	CAG		0.403	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		47	71	0	0	0	1	0	47	71				
APIP	51074	broad.mit.edu	37	11	34909891	34909891	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr11:34909891T>C	ENST00000395787.3	-	5	624	c.410A>G	c.(409-411)cAt>cGt	p.H137R	APIP_ENST00000278359.5_Missense_Mutation_p.H154R|APIP_ENST00000527830.1_5'UTR	NM_015957.2	NP_057041.2			APAF1 interacting protein											kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CATCTCTTGATGTGTAATTTT	0.373																																						ENST00000395787.3																			0				kidney(2)|lung(1)|skin(1)	4						c.(409-411)cAt>cGt		APAF1 interacting protein							85.0	84.0	85.0					11																	34909891		2202	4298	6500	SO:0001583	missense	51074				apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity	g.chr11:34909891T>C	AF132963	CCDS7895.1	11p13	2014-05-12				ENSG00000149089	4.2.1.109		17581	protein-coding gene	gene with protein product	"""methylthioribulose-1-phosphate dehydratase"""	612491				10810093, 15262985, 24367089	Standard	NM_015957		Approved	CGI-29, Mmrp19, APIP2	uc001mvs.2	Q96GX9		ENST00000395787.3:c.410A>G	11.37:g.34909891T>C	ENSP00000379133:p.His137Arg					APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Missense_Mutation_p.H154R	p.H137R	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	STAD - Stomach adenocarcinoma(6;0.000425)		5	624	-	all_epithelial(35;0.161)	all_hematologic(20;0.107)	137						Missense_Mutation	SNP	ENST00000395787.3	37	c.410A>G	CCDS7895.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.341442	0.81911	.	.	ENSG00000149089	ENST00000278359;ENST00000395787	T;T	0.23552	1.9;1.9	5.7	5.7	0.88788	Class II aldolase/adducin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.57562	0.2062	M	0.90759	3.145	0.80722	D	1	D;P	0.59357	0.985;0.935	D;P	0.64144	0.922;0.806	T	0.67389	-0.5683	10	0.87932	D	0	-25.978	15.9707	0.80013	0.0:0.0:0.0:1.0	.	154;137	B4DY17;Q96GX9	.;MTNB_HUMAN	R	154;137	ENSP00000278359:H154R;ENSP00000379133:H137R	ENSP00000278359:H154R	H	-	2	0	APIP	34866467	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.642000	0.83385	2.177000	0.69029	0.459000	0.35465	CAT		0.373	APIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389864.1	NM_015957		22	73	0	0	0	1	0	22	73				
CRISPLD1	83690	broad.mit.edu	37	8	75932115	75932115	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr8:75932115T>C	ENST00000262207.4	+	11	1606	c.1138T>C	c.(1138-1140)Tct>Cct	p.S380P	CRISPLD1_ENST00000523524.1_Missense_Mutation_p.S192P|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.S194P	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	380	LCCL 1. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CAAATATCAGTCTGCTAATTC	0.333																																						ENST00000262207.4																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1138-1140)Tct>Cct		cysteine-rich secretory protein LCCL domain containing 1							134.0	131.0	132.0					8																	75932115		2203	4300	6503	SO:0001583	missense	83690					extracellular region		g.chr8:75932115T>C	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1138T>C	8.37:g.75932115T>C	ENSP00000262207:p.Ser380Pro					CRISPLD1_ENST00000523524.1_Missense_Mutation_p.S192P|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.S194P	p.S380P	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		11	1606	+	Breast(64;0.0799)		380			LCCL 1.		B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	c.1138T>C	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	T	9.020	0.984757	0.18889	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	D;D;D	0.89552	-2.53;-2.53;-2.53	5.24	5.24	0.73138	LCCL (4);	0.123046	0.64402	D	0.000017	D	0.88474	0.6446	N	0.16708	0.43	0.54753	D	0.999986	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.972	D	0.85194	0.1011	10	0.13470	T	0.59	.	14.9728	0.71246	0.0:0.0:0.0:1.0	.	194;380	B7Z929;Q9H336	.;CRLD1_HUMAN	P	380;192;194	ENSP00000262207:S380P;ENSP00000430105:S192P;ENSP00000429746:S194P	ENSP00000262207:S380P	S	+	1	0	CRISPLD1	76094670	1.000000	0.71417	0.964000	0.40570	0.950000	0.60333	5.823000	0.69272	2.202000	0.70862	0.528000	0.53228	TCT		0.333	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		22	22	0	0	0	1	0	22	22				
TRAIP	10293	broad.mit.edu	37	3	49867117	49867117	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr3:49867117C>T	ENST00000331456.2	-	13	1282	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	TRAIP_ENST00000469027.1_Missense_Mutation_p.R235Q	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	390	Interaction with CYLD.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GATGGCATTCCGGACAAAAAT	0.587																																						ENST00000331456.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1168-1170)cGg>cAg		TRAF interacting protein							64.0	65.0	65.0					3																	49867117		2203	4300	6503	SO:0001583	missense	10293				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr3:49867117C>T	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"""RING-type (C3HC4) zinc fingers"""	30764	protein-coding gene	gene with protein product	"""ring finger protein 206"""	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.1169G>A	3.37:g.49867117C>T	ENSP00000328203:p.Arg390Gln					TRAIP_ENST00000469027.1_Missense_Mutation_p.R235Q	p.R390Q	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	13	1282	-			390			Interaction with CYLD.		B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	ENST00000331456.2	37	c.1169G>A	CCDS2806.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680521	0.68042	.	.	ENSG00000183763	ENST00000331456;ENST00000469027	T	0.55588	0.51	5.21	5.21	0.72293	.	0.049801	0.85682	D	0.000000	T	0.48607	0.1509	M	0.64997	1.995	0.37500	D	0.916725	B;B	0.30193	0.127;0.272	B;B	0.17433	0.008;0.018	T	0.55958	-0.8058	10	0.51188	T	0.08	-12.8975	14.1326	0.65266	0.0:1.0:0.0:0.0	.	390;390	A8K807;Q9BWF2	.;TRAIP_HUMAN	Q	390;235	ENSP00000420085:R235Q	ENSP00000328203:R390Q	R	-	2	0	TRAIP	49842121	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.990000	0.40717	2.707000	0.92482	0.655000	0.94253	CGG		0.587	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879		27	49	0	0	0	1	0	27	49				
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303																																						ENST00000582557.1																			0																																																			0							g.chr17:29061941T>C																													17.37:g.29061941T>C														0	861	+									RNA	SNP	ENST00000582557.1	37																																																																																						0.303	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			4	37	0	0	0	1	0	4	37				
LOC643201	643201	broad.mit.edu	37	5	175574052	175574052	+	lincRNA	SNP	G	G	A	rs73332206	byFrequency	TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr5:175574052G>A	ENST00000515403.1	-	0	2716				RP11-826N14.4_ENST00000510029.1_lincRNA	NR_036494.1																						GTGGGGTTTGGGCTGTCAACT	0.463													G|||	209	0.0417332	0.1203	0.0303	5008	,	,		19454	0.001		0.0268	False		,,,				2504	0.001					ENST00000515403.1																			0																																																			0							g.chr5:175574052G>A																													5.37:g.175574052G>A						RP11-826N14.4_ENST00000510029.1_lincRNA		NR_036494.1						0	2716	-									RNA	SNP	ENST00000515403.1	37																																																																																						0.463	RP11-844P9.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000371986.1			4	16	0	0	0	1	0	4	16				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			22	22	0	0	0	1	0	22	22				
RGS3	5998	broad.mit.edu	37	9	116224037	116224037	+	Missense_Mutation	SNP	G	G	A	rs371153692		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr9:116224037G>A	ENST00000374140.2	+	3	340	c.131G>A	c.(130-132)cGt>cAt	p.R44H	RGS3_ENST00000350696.5_Missense_Mutation_p.R44H|RGS3_ENST00000317613.6_5'Flank	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	44					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGATCTCACCGTCCTGAGTGT	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21999	0.0		0.0	False		,,,				2504	0.0					ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(130-132)cGt>cAt		regulator of G-protein signaling 3							117.0	116.0	116.0					9																	116224037		1981	4152	6133	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116224037G>A	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.131G>A	9.37:g.116224037G>A	ENSP00000363255:p.Arg44His					RGS3_ENST00000350696.5_Missense_Mutation_p.R44H	p.R44H	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			3	340	+			44					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.131G>A	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	9.639	1.138419	0.21123	.	.	ENSG00000138835	ENST00000374140;ENST00000350696	T;T	0.50277	0.75;0.75	2.54	-4.26	0.03755	.	.	.	.	.	T	0.20700	0.0498	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14062	-1.0486	9	0.87932	D	0	.	1.6197	0.02711	0.3176:0.2466:0.3199:0.1159	.	44	P49796	RGS3_HUMAN	H	44	ENSP00000363255:R44H;ENSP00000259406:R44H	ENSP00000259406:R44H	R	+	2	0	RGS3	115263858	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.456000	0.06754	-1.053000	0.03218	-0.203000	0.12734	CGT		0.537	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		24	112	0	0	0	1	0	24	112				
MYH11	4629	broad.mit.edu	37	16	15835445	15835445	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:15835445G>A	ENST00000300036.5	-	22	2843	c.2734C>T	c.(2734-2736)Cgg>Tgg	p.R912W	MYH11_ENST00000452625.2_Missense_Mutation_p.R919W|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000576790.2_Missense_Mutation_p.R912W|MYH11_ENST00000396324.3_Missense_Mutation_p.R919W	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	912					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCGCCAGCCGCACCCGCATC	0.622			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(2734-2736)Cgg>Tgg		myosin, heavy chain 11, smooth muscle							80.0	88.0	85.0					16																	15835445		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15835445G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2734C>T	16.37:g.15835445G>A	ENSP00000300036:p.Arg912Trp					MYH11_ENST00000396324.3_Missense_Mutation_p.R919W|MYH11_ENST00000300036.5_Missense_Mutation_p.R912W|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000576790.1_Missense_Mutation_p.R912W|MYH11_ENST00000452625.2_Missense_Mutation_p.R919W	p.R912W	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			22	2840	-			912					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2734C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976306	0.92982	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.98061	0.9361	H	0.94542	3.55	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.85130	0.997;0.995;0.995;0.995;0.993	D	0.99342	1.0912	10	0.72032	D	0.01	.	17.3113	0.87211	0.0:0.0:1.0:0.0	.	919;912;919;912;919	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	W	912;912;919;919;919	ENSP00000300036:R912W;ENSP00000345136:R912W;ENSP00000379616:R919W;ENSP00000407821:R919W	ENSP00000300036:R912W	R	-	1	2	MYH11	15742946	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.807000	0.99171	2.330000	0.79161	0.462000	0.41574	CGG		0.622	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		5	254	0	0	0	1	0	5	254				
PCDHB4	56131	broad.mit.edu	37	5	140502918	140502918	+	Silent	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr5:140502918C>T	ENST00000194152.1	+	1	1338	c.1338C>T	c.(1336-1338)aaC>aaT	p.N446N	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	446	Cadherin 4. {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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATGACAACGCCCCCGCCT	0.602																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(1336-1338)aaC>aaT									100.0	93.0	95.0					5																	140502918		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502918C>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1338C>T	5.37:g.140502918C>T							p.N446N	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1338	+			446			Cadherin 4.		Q4V761	Silent	SNP	ENST00000194152.1	37	c.1338C>T	CCDS4246.1																																																																																				0.602	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		111	112	0	0	0	1	0	111	112				
WDR17	116966	broad.mit.edu	37	4	177032847	177032847	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr4:177032847T>C	ENST00000280190.4	+	3	344	c.188T>C	c.(187-189)aTt>aCt	p.I63T	WDR17_ENST00000393643.2_Missense_Mutation_p.I39T|WDR17_ENST00000508596.1_Missense_Mutation_p.I39T|WDR17_ENST00000507824.2_Missense_Mutation_p.I63T			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	63										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GCTATCTATATTTATCAGGTA	0.343																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(115-117)aTt>aCt		WD repeat domain 17							68.0	66.0	67.0					4																	177032847		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177032847T>C	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.188T>C	4.37:g.177032847T>C	ENSP00000280190:p.Ile63Thr					WDR17_ENST00000508596.1_Missense_Mutation_p.I39T|WDR17_ENST00000280190.4_Missense_Mutation_p.I63T|WDR17_ENST00000507824.2_Missense_Mutation_p.I63T	p.I39T	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	2	368	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	63					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.116T>C	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533218	0.45073	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000296524;ENST00000507824	T;T;T	0.68331	-0.27;-0.26;-0.32	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.448040	0.23573	N	0.046730	T	0.58694	0.2140	L	0.34521	1.04	0.46317	D	0.998983	B;P;B	0.40000	0.27;0.698;0.397	B;B;B	0.39617	0.092;0.305;0.092	T	0.61628	-0.7024	10	0.46703	T	0.11	-5.1392	15.4158	0.74966	0.0:0.0:0.0:1.0	.	39;63;63	E7EQX0;E7ESC9;Q8IZU2	.;.;WDR17_HUMAN	T	39;39;63;39;63	ENSP00000422763:I39T;ENSP00000377258:I39T;ENSP00000280190:I63T	ENSP00000280190:I63T	I	+	2	0	WDR17	177269841	1.000000	0.71417	0.992000	0.48379	0.650000	0.38633	7.414000	0.80117	2.033000	0.60031	0.383000	0.25322	ATT		0.343	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			15	37	0	0	0	1	0	15	37				
CHRM3	1131	broad.mit.edu	37	1	240071128	240071128	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:240071128C>T	ENST00000255380.4	+	5	1156	c.377C>T	c.(376-378)aCg>aTg	p.T126M		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	126					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.T126M(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AATCTGTTTACGACCTACATC	0.468																																						ENST00000255380.4																			1	Substitution - Missense(1)	p.T126M(1)	endometrium(1)	breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(376-378)aCg>aTg		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						107.0	92.0	97.0					1																	240071128		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071128C>T	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.377C>T	1.37:g.240071128C>T	ENSP00000255380:p.Thr126Met						p.T126M	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1156	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	126					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.377C>T	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339430	0.81911	.	.	ENSG00000133019	ENST00000255380	T	0.19394	2.15	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.41003	0.1140	L	0.38838	1.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.11941	-1.0567	10	0.87932	D	0	-21.3917	20.2789	0.98501	0.0:1.0:0.0:0.0	.	126	P20309	ACM3_HUMAN	M	126	ENSP00000255380:T126M	ENSP00000255380:T126M	T	+	2	0	CHRM3	238137751	1.000000	0.71417	0.976000	0.42696	0.992000	0.81027	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	ACG		0.468	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		20	37	0	0	0	1	0	20	37				
COBL	23242	broad.mit.edu	37	7	51093066	51093066	+	Missense_Mutation	SNP	C	C	T	rs184520448		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:51093066C>T	ENST00000265136.7	-	12	3673	c.3508G>A	c.(3508-3510)Gca>Aca	p.A1170T	COBL_ENST00000395542.2_Missense_Mutation_p.A1252T|RP4-724E13.2_ENST00000582616.1_RNA	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1170					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCAGAGGATGCCACCTGGCAA	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		13158	0.001		0.0	False		,,,				2504	0.0				NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3754-3756)Gca>Aca		cordon-bleu WH2 repeat protein							32.0	34.0	33.0					7																	51093066		2203	4299	6502	SO:0001583	missense	23242							g.chr7:51093066C>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3508G>A	7.37:g.51093066C>T	ENSP00000265136:p.Ala1170Thr					COBL_ENST00000265136.7_Missense_Mutation_p.A1170T	p.A1252T			O75128	COBL_HUMAN			14	3938	-	Glioma(55;0.08)		1170			WH2 3.		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.3754G>A	CCDS34637.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.975	1.226618	0.22542	.	.	ENSG00000106078	ENST00000265136;ENST00000431948;ENST00000395542	T;T;T	0.42900	0.96;0.96;0.96	5.61	-1.65	0.08291	.	1.072930	0.07417	N	0.893415	T	0.17789	0.0427	N	0.03608	-0.345	0.22728	N	0.998802	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.21245	-1.0251	10	0.25106	T	0.35	.	6.3069	0.21143	0.412:0.2438:0.0:0.3442	.	1170;712	O75128;O75128-6	COBL_HUMAN;.	T	1170;1055;1252	ENSP00000265136:A1170T;ENSP00000413498:A1055T;ENSP00000378912:A1252T	ENSP00000265136:A1170T	A	-	1	0	COBL	51060560	1.000000	0.71417	0.486000	0.27416	0.132000	0.20833	1.114000	0.31196	-0.512000	0.06505	-0.276000	0.10085	GCA		0.517	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		13	60	0	0	0	1	0	13	60				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	147	0	0	0	1	0	4	147				
PKHD1	5314	broad.mit.edu	37	6	51768522	51768522	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr6:51768522C>G	ENST00000371117.3	-	43	7144	c.6869G>C	c.(6868-6870)tGg>tCg	p.W2290S	PKHD1_ENST00000340994.4_Missense_Mutation_p.W2290S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2290					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGTCCTGACCAGTCTAATGT	0.393																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(6868-6870)tGg>tCg		polycystic kidney and hepatic disease 1 (autosomal recessive)							130.0	122.0	125.0					6																	51768522		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51768522C>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6869G>C	6.37:g.51768522C>G	ENSP00000360158:p.Trp2290Ser					PKHD1_ENST00000340994.4_Missense_Mutation_p.W2290S	p.W2290S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			43	7144	-	Lung NSC(77;0.0605)		2290					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.6869G>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	2.234	-0.375366	0.05034	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.80123	-1.34;-1.34	5.73	1.65	0.23941	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	1.042350	0.07512	N	0.909093	T	0.55146	0.1902	M	0.63428	1.95	0.09310	N	0.999991	P;B;B	0.35793	0.521;0.137;0.001	B;B;B	0.35182	0.197;0.058;0.004	T	0.43925	-0.9361	10	0.13853	T	0.58	.	4.6101	0.12399	0.2763:0.517:0.1336:0.073	.	2290;2290;2290	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	S	2290	ENSP00000360158:W2290S;ENSP00000341097:W2290S	ENSP00000341097:W2290S	W	-	2	0	PKHD1	51876481	0.860000	0.29831	0.130000	0.21974	0.443000	0.32047	0.846000	0.27682	0.286000	0.22352	0.650000	0.86243	TGG		0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		16	41	0	0	0	1	0	16	41				
PCDH15	65217	broad.mit.edu	37	10	55581631	55581631	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr10:55581631G>C	ENST00000320301.6	-	33	6249	c.5855C>G	c.(5854-5856)tCt>tGt	p.S1952C	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1929C|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1912C|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1883C|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1949C|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.S1954C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.S806C|PCDH15_ENST00000395438.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1952					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGTGAAGTAGATTGACTGTG	0.363										HNSCC(58;0.16)																												ENST00000361849.3																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(5860-5862)tCt>tGt		protocadherin-related 15							152.0	140.0	144.0					10																	55581631		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55581631G>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5855C>G	10.37:g.55581631G>C	ENSP00000322604:p.Ser1952Cys	HNSCC(58;0.16)				PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1883C|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1912C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1949C|PCDH15_ENST00000373957.3_Missense_Mutation_p.S806C|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1952C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1929C|PCDH15_ENST00000463095.1_5'UTR	p.S1954C	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN			34	6255	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1952					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.5861C>G	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	9.765	1.171090	0.21621	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T	0.74737	-0.8;-0.84;-0.75;-0.87;-0.66;-0.67;-0.75	5.19	4.28	0.50868	.	.	.	.	.	T	0.76849	0.4045	L	0.32530	0.975	0.46203	D	0.998923	D;D;D;D;D;D;D;D;D	0.71674	0.998;0.998;0.997;0.997;0.998;0.998;0.997;0.979;0.997	P;P;P;P;P;P;P;P;P	0.60173	0.87;0.87;0.781;0.781;0.87;0.87;0.781;0.514;0.781	T	0.79465	-0.1792	9	0.87932	D	0	.	13.7424	0.62855	0.0755:0.0:0.9245:0.0	.	1929;1952;1954;1959;1883;1912;1949;806;1952	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;PCD15_HUMAN	C	1912;1954;1929;806;1952;1949;1959;1883	ENSP00000378820:S1912C;ENSP00000354950:S1954C;ENSP00000378821:S1929C;ENSP00000363068:S806C;ENSP00000322604:S1952C;ENSP00000378818:S1949C;ENSP00000412628:S1883C	ENSP00000322604:S1952C	S	-	2	0	PCDH15	55251637	1.000000	0.71417	0.742000	0.31022	0.074000	0.17049	5.827000	0.69300	1.187000	0.43000	0.655000	0.94253	TCT		0.363	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		21	115	0	0	0	1	0	21	115				
CCDC13	152206	broad.mit.edu	37	3	42750573	42750573	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr3:42750573G>A	ENST00000310232.6	-	16	2130	c.2047C>T	c.(2047-2049)Cgg>Tgg	p.R683W	HHATL-AS1_ENST00000600839.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	683										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCCTTTCCCCGCAGGGCACTG	0.592																																						ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(2047-2049)Cgg>Tgg		coiled-coil domain containing 13							88.0	78.0	81.0					3																	42750573		2203	4300	6503	SO:0001583	missense	152206							g.chr3:42750573G>A	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.2047C>T	3.37:g.42750573G>A	ENSP00000309836:p.Arg683Trp						p.R683W	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			16	2130	-			683						Missense_Mutation	SNP	ENST00000310232.6	37	c.2047C>T	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742798	0.69418	.	.	ENSG00000244607	ENST00000310232	T	0.30981	1.51	4.58	1.27	0.21489	.	0.485362	0.18883	N	0.128511	T	0.37732	0.1014	L	0.60455	1.87	0.26708	N	0.971039	D	0.64830	0.994	P	0.50896	0.653	T	0.30909	-0.9962	10	0.72032	D	0.01	.	11.9626	0.53017	0.0:0.0:0.2988:0.7012	.	683	Q8IYE1	CCD13_HUMAN	W	683	ENSP00000309836:R683W	ENSP00000309836:R683W	R	-	1	2	CCDC13	42725577	0.125000	0.22332	0.988000	0.46212	0.986000	0.74619	0.353000	0.20130	0.473000	0.27368	0.563000	0.77884	CGG		0.592	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		20	76	0	0	0	1	0	20	76				
PLIN1	5346	broad.mit.edu	37	15	90212791	90212791	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr15:90212791C>T	ENST00000300055.5	-	6	876	c.711G>A	c.(709-711)atG>atA	p.M237I	PLIN1_ENST00000430628.2_Missense_Mutation_p.M237I	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	237					lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						GGGCCCGGGCCATGGTCTGCA	0.642																																						ENST00000300055.5																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						c.(709-711)atG>atA		perilipin 1							46.0	45.0	45.0					15																	90212791		2200	4299	6499	SO:0001583	missense	5346				triglyceride catabolic process	lipid particle	lipid binding	g.chr15:90212791C>T	AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"""Perilipins"""	9076	protein-coding gene	gene with protein product		170290	"""perilipin"""	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.711G>A	15.37:g.90212791C>T	ENSP00000300055:p.Met237Ile					PLIN1_ENST00000430628.2_Missense_Mutation_p.M237I	p.M237I	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN			6	876	-			237					Q8N5Y6	Missense_Mutation	SNP	ENST00000300055.5	37	c.711G>A	CCDS10353.1	.	.	.	.	.	.	.	.	.	.	C	5.610	0.297344	0.10622	.	.	ENSG00000166819	ENST00000300055;ENST00000430628	T;T	0.05258	3.47;3.47	5.2	-1.27	0.09347	.	0.590678	0.16797	N	0.199139	T	0.02193	0.0068	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.43718	-0.9374	10	0.16420	T	0.52	-3.4481	1.7595	0.02989	0.1504:0.3668:0.1547:0.3282	.	237	O60240	PLIN1_HUMAN	I	237	ENSP00000300055:M237I;ENSP00000402167:M237I	ENSP00000300055:M237I	M	-	3	0	PLIN1	88013795	0.000000	0.05858	0.079000	0.20413	0.040000	0.13550	-1.574000	0.02133	-0.248000	0.09583	-0.379000	0.06801	ATG		0.642	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313424.2	NM_002666		23	69	0	0	0	1	0	23	69				
RD3	343035	broad.mit.edu	37	1	211652456	211652456	+	Silent	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:211652456G>A	ENST00000367002.4	-	3	1673	c.510C>T	c.(508-510)tcC>tcT	p.S170S	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	170					response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		CCACGTCCTCGGAGATGGTCC	0.716																																						ENST00000367002.4																			0				central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10						c.(508-510)tcC>tcT		retinal degeneration 3							25.0	24.0	24.0					1																	211652456		2202	4298	6500	SO:0001819	synonymous_variant	343035				response to stimulus|visual perception			g.chr1:211652456G>A	AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"""chromosome 1 open reading frame 36"""	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.510C>T	1.37:g.211652456G>A						RD3_ENST00000484910.1_5'UTR	p.S170S	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)	3	1673	-			170					A8K595	Silent	SNP	ENST00000367002.4	37	c.510C>T	CCDS1498.1																																																																																				0.716	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089837.1	NM_183059		6	26	0	0	0	1	0	6	26				
OR6Q1	219952	broad.mit.edu	37	11	57798711	57798711	+	Missense_Mutation	SNP	T	T	C	rs371551398		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr11:57798711T>C	ENST00000302622.3	+	1	310	c.287T>C	c.(286-288)aTc>aCc	p.I96T	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GGCAAGAATATCTCTTATGCT	0.483																																						ENST00000302622.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(286-288)aTc>aCc		olfactory receptor, family 6, subfamily Q, member 1		T	THR/ILE	1,4401	2.1+/-5.4	0,1,2200	174.0	164.0	168.0		287	4.8	0.8	11		168	0,8592		0,0,4296	no	missense	OR6Q1	NM_001005186.2	89	0,1,6496	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	96/318	57798711	1,12993	2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57798711T>C	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.287T>C	11.37:g.57798711T>C	ENSP00000307734:p.Ile96Thr					OR9Q1_ENST00000335397.3_Intron	p.I96T	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN			1	310	+		Breast(21;0.0707)|all_epithelial(135;0.142)	96					B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.287T>C	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.571229	0.45798	2.27E-4	0.0	ENSG00000172381	ENST00000302622	T	0.00482	7.1	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39146	N	0.001450	T	0.02156	0.0067	M	0.93328	3.405	0.34164	D	0.668988	D	0.89917	1.0	D	0.76575	0.988	T	0.10019	-1.0648	10	0.87932	D	0	.	13.3352	0.60515	0.0:0.0:0.0:1.0	.	96	Q8NGQ2	OR6Q1_HUMAN	T	96	ENSP00000307734:I96T	ENSP00000307734:I96T	I	+	2	0	OR6Q1	57555287	1.000000	0.71417	0.772000	0.31596	0.477000	0.33069	5.796000	0.69080	1.801000	0.52704	0.519000	0.50382	ATC		0.483	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		10	139	0	0	0	1	0	10	139				
ZNF676	163223	broad.mit.edu	37	19	22363763	22363763	+	Silent	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr19:22363763G>A	ENST00000397121.2	-	3	1073	c.756C>T	c.(754-756)ccC>ccT	p.P252P		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	252					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CACATTTGTAGGGTTTCTCTC	0.373																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(754-756)ccC>ccT		zinc finger protein 676							79.0	87.0	84.0					19																	22363763		2169	4282	6451	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363763G>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.756C>T	19.37:g.22363763G>A							p.P252P	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1073	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	252					A8MVX5	Silent	SNP	ENST00000397121.2	37	c.756C>T	CCDS42539.1																																																																																				0.373	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		30	66	0	0	0	1	0	30	66				
CYP4Z2P	163720	broad.mit.edu	37	1	47325287	47325287	+	RNA	SNP	T	T	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:47325287T>C	ENST00000505841.1	-	0	1204					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										AATCCAAACATAGCTGCATTG	0.388																																						ENST00000505841.1																			0																																																			0							g.chr1:47325287T>C	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325287T>C								NR_002788.2						0	1204	-								Q66ZJ5	RNA	SNP	ENST00000505841.1	37																																																																																						0.388	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		4	41	0	0	0	1	0	4	41				
ZNF644	84146	broad.mit.edu	37	1	91405999	91405999	+	Silent	SNP	G	G	T	rs144274015	byFrequency	TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:91405999G>T	ENST00000370440.1	-	3	1129	c.912C>A	c.(910-912)acC>acA	p.T304T	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Silent_p.T304T|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	304					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(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGCAATCCTCGGTATAACGAG	0.343																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(910-912)acC>acA		zinc finger protein 644							89.0	87.0	88.0					1																	91405999		2203	4299	6502	SO:0001819	synonymous_variant	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91405999G>T	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.912C>A	1.37:g.91405999G>T						ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Silent_p.T304T|ZNF644_ENST00000347275.5_Intron	p.T304T			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	1129	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	304					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Silent	SNP	ENST00000370440.1	37	c.912C>A	CCDS731.1																																																																																				0.343	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		9	28	1	0	2.17888e-05	1	2.2124e-05	9	28				
NOTCH1	4851	broad.mit.edu	37	9	139412302	139412302	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr9:139412302C>A	ENST00000277541.6	-	8	1418	c.1343G>T	c.(1342-1344)cGa>cTa	p.R448L	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	448	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GATCTCGCATCGGGGGCCCGT	0.647			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1342-1344)cGa>cTa		notch 1							50.0	57.0	55.0					9																	139412302		2182	4274	6456	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412302C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1343G>T	9.37:g.139412302C>A	ENSP00000277541:p.Arg448Leu	HNSCC(8;0.001)					p.R448L	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1418	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	448			EGF-like 11; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1343G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228692	0.79576	.	.	ENSG00000148400	ENST00000277541	D	0.94000	-3.33	4.57	4.57	0.56435	EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.92299	0.7557	N	0.13327	0.33	0.80722	D	1	D	0.54397	0.966	D	0.65233	0.933	D	0.91579	0.5277	10	0.27785	T	0.31	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	448	P46531	NOTC1_HUMAN	L	448	ENSP00000277541:R448L	ENSP00000277541:R448L	R	-	2	0	NOTCH1	138532123	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	5.877000	0.69675	2.088000	0.63022	0.462000	0.41574	CGA		0.647	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		24	80	1	0	4.26978e-12	1	4.69675e-12	24	80				
FCRL2	79368	broad.mit.edu	37	1	157738222	157738222	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:157738222C>T	ENST00000361516.3	-	5	913	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.V289M|FCRL2_ENST00000469986.1_5'Flank	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	289	Ig-like C2-type 3.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGGATATTCACCACCTTGCTC	0.478																																						ENST00000361516.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51						c.(865-867)Gtg>Atg		Fc receptor-like 2							136.0	137.0	137.0					1																	157738222		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157738222C>T	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.865G>A	1.37:g.157738222C>T	ENSP00000355157:p.Val289Met					FCRL2_ENST00000392274.3_Missense_Mutation_p.V289M|FCRL2_ENST00000368181.4_Intron	p.V289M	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	913	-	all_hematologic(112;0.0378)		289			Ig-like C2-type 3.		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.865G>A	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863949	0.32884	.	.	ENSG00000132704	ENST00000361516;ENST00000392274	T;T	0.15952	2.38;2.38	3.89	-0.354	0.12591	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.680225	0.11944	N	0.514405	T	0.18718	0.0449	M	0.83483	2.645	0.09310	N	1	P;P	0.51351	0.944;0.888	P;P	0.60609	0.877;0.714	T	0.05517	-1.0880	10	0.40728	T	0.16	.	4.7548	0.13078	0.0:0.4162:0.3725:0.2113	.	289;289	B4DVJ9;Q96LA5	.;FCRL2_HUMAN	M	289	ENSP00000355157:V289M;ENSP00000376100:V289M	ENSP00000355157:V289M	V	-	1	0	FCRL2	156004846	0.447000	0.25673	0.002000	0.10522	0.042000	0.13812	0.443000	0.21644	-0.170000	0.10816	-0.136000	0.14681	GTG		0.478	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		19	95	0	0	0	1	0	19	95				
NLRC4	58484	broad.mit.edu	37	2	32449596	32449596	+	Silent	SNP	A	A	G			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr2:32449596A>G	ENST00000404025.2	-	10	3509	c.3021T>C	c.(3019-3021)ttT>ttC	p.F1007F	NLRC4_ENST00000402280.1_Silent_p.F1007F|NLRC4_ENST00000360906.5_Silent_p.F1007F|NLRC4_ENST00000342905.6_Silent_p.F342F			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	1007					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CATCATCATCAAATTGCCACC	0.378																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(3019-3021)ttT>ttC		NLR family, CARD domain containing 4							111.0	111.0	111.0					2																	32449596		2203	4300	6503	SO:0001819	synonymous_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32449596A>G	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.3021T>C	2.37:g.32449596A>G						NLRC4_ENST00000402280.1_Silent_p.F1007F|NLRC4_ENST00000360906.5_Silent_p.F1007F|NLRC4_ENST00000342905.6_Silent_p.F342F	p.F1007F			Q9NPP4	NLRC4_HUMAN			10	3509	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		1007					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	c.3021T>C	CCDS33174.1																																																																																				0.378	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		45	65	0	0	0	1	0	45	65				
OR52M1	119772	broad.mit.edu	37	11	4567331	4567331	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr11:4567331A>G	ENST00000360213.1	+	1	911	c.911A>G	c.(910-912)gAg>gGg	p.E304G		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGATCCGAGAGAGCCTTCTC	0.438																																						ENST00000360213.1																			0				endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(910-912)gAg>gGg		olfactory receptor, family 52, subfamily M, member 1							91.0	87.0	88.0					11																	4567331		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4567331A>G	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.911A>G	11.37:g.4567331A>G	ENSP00000353343:p.Glu304Gly						p.E304G	NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	911	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	304						Missense_Mutation	SNP	ENST00000360213.1	37	c.911A>G	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	A	9.016	0.983754	0.18889	.	.	ENSG00000197790	ENST00000360213	T	0.37915	1.17	4.91	3.77	0.43336	.	0.136973	0.33075	N	0.005314	T	0.35098	0.0920	M	0.66939	2.045	0.09310	N	0.999999	B	0.25351	0.124	B	0.26864	0.074	T	0.34925	-0.9809	10	0.59425	D	0.04	.	7.8774	0.29601	0.8929:0.0:0.1071:0.0	.	304	Q8NGK5	O52M1_HUMAN	G	304	ENSP00000353343:E304G	ENSP00000353343:E304G	E	+	2	0	OR52M1	4523907	0.001000	0.12720	0.453000	0.27007	0.229000	0.25112	0.228000	0.17814	0.985000	0.38656	0.533000	0.62120	GAG		0.438	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		4	75	0	0	0	1	0	4	75				
COQ5	84274	broad.mit.edu	37	12	120947837	120947837	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr12:120947837C>T	ENST00000288532.6	-	4	704	c.664G>A	c.(664-666)Gtc>Atc	p.V222I	COQ5_ENST00000445328.2_Missense_Mutation_p.V148I	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	222					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGTGTGTGACATTCCGGATC	0.433																																						ENST00000288532.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20						c.(664-666)Gtc>Atc		coenzyme Q5 homolog, methyltransferase (S. cerevisiae)							200.0	165.0	177.0					12																	120947837		2203	4300	6503	SO:0001583	missense	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120947837C>T	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.664G>A	12.37:g.120947837C>T	ENSP00000288532:p.Val222Ile					COQ5_ENST00000445328.2_Missense_Mutation_p.V148I	p.V222I	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN			4	704	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		222					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	ENST00000288532.6	37	c.664G>A	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	C	34	5.291566	0.95546	.	.	ENSG00000110871	ENST00000288532;ENST00000445328;ENST00000552443;ENST00000547943	T;T;T;T	0.69561	-0.41;-0.41;-0.14;0.86	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.78400	0.4277	M	0.62266	1.93	0.80722	D	1	P;D	0.56746	0.877;0.977	P;P	0.58391	0.627;0.838	T	0.79478	-0.1787	10	0.87932	D	0	.	18.9769	0.92740	0.0:1.0:0.0:0.0	.	148;222	B4DP72;Q5HYK3	.;COQ5_HUMAN	I	222;148;141;172	ENSP00000288532:V222I;ENSP00000401798:V148I;ENSP00000449863:V141I;ENSP00000449874:V172I	ENSP00000288532:V222I	V	-	1	0	COQ5	119432220	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.561000	0.82288	2.773000	0.95371	0.655000	0.94253	GTC		0.433	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		14	38	0	0	0	1	0	14	38				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|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	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	69	0	0	0	1	0	4	69				
ADAM28	10863	broad.mit.edu	37	8	24181517	24181517	+	Splice_Site	SNP	G	G	A	rs138768775		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr8:24181517G>A	ENST00000265769.4	+	9	1000		c.e9+1		ADAM28_ENST00000397649.3_Splice_Site|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Splice_Site|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_Splice_Site|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000518516.1_Splice_Site	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28						spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGTTAATCACGTATGTACAGA	0.423																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.e9+1		ADAM metallopeptidase domain 28		G	,	0,4404		0,0,2202	96.0	97.0	97.0		,	4.9	1.0	8	dbSNP_134	97	1,8595	1.2+/-3.3	0,1,4297	yes	splice-5,splice-5	ADAM28	NM_014265.4,NM_021777.3	,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,	,	24181517	1,12999	2202	4298	6500	SO:0001630	splice_region_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24181517G>A	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.890+1G>A	8.37:g.24181517G>A						ADAM28_ENST00000397649.3_Splice_Site|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_Splice_Site|ADAM28_ENST00000518516.1_Splice_Site|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Splice_Site		NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	9	1000	+		Prostate(55;0.0959)						B2RMV5|Q9Y339|Q9Y3S0	Splice_Site	SNP	ENST00000265769.4	37		CCDS34865.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159541	0.57368	0.0	1.16E-4	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8691	0.63608	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM28	24237462	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	6.795000	0.75140	2.416000	0.81992	0.650000	0.86243	.		0.423	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	Intron	8	25	0	0	0	1	0	8	25				
SPATA31C1	441452	broad.mit.edu	37	9	90535986	90535986	+	RNA	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr9:90535986G>A	ENST00000602681.1	+	0	1890							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCCCTGCGTCGCAGAATAAAG	0.517																																						ENST00000602681.1																			0																				20.0	17.0	18.0					9																	90535986		692	1591	2283			0							g.chr9:90535986G>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535986G>A														0	1890	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.517	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		60	316	0	0	0	1	0	60	316				
CEBPE	1053	broad.mit.edu	37	14	23588124	23588124	+	Silent	SNP	G	G	A	rs141320203	byFrequency	TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr14:23588124G>A	ENST00000206513.5	-	1	701	c.177C>T	c.(175-177)gcC>gcT	p.A59A		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	59					cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		CTGGCTTCACGGCAAAGAGAT	0.647													G|||	2	0.000399361	0.0008	0.0	5008	,	,		13819	0.001		0.0	False		,,,				2504	0.0				NSCLC(63;1230 1818 14565 22565)	ENST00000206513.5																			0				large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(175-177)gcC>gcT		CCAAT/enhancer binding protein (C/EBP), epsilon							48.0	52.0	50.0					14																	23588124		2203	4300	6503	SO:0001819	synonymous_variant	1053					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23588124G>A		CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"""basic leucine zipper proteins"""	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.177C>T	14.37:g.23588124G>A							p.A59A	NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)	1	701	-	all_cancers(95;4.6e-05)		59					Q15745|Q8IYI2|Q99803	Silent	SNP	ENST00000206513.5	37	c.177C>T	CCDS9589.1																																																																																				0.647	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		27	147	0	0	0	1	0	27	147				
OTX2	5015	broad.mit.edu	37	14	57268721	57268721	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr14:57268721C>A	ENST00000555006.1	-	4	1010	c.602G>T	c.(601-603)tGt>tTt	p.C201F	OTX2_ENST00000408990.3_Missense_Mutation_p.C201F|RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000339475.5_Missense_Mutation_p.C209F|OTX2_ENST00000554788.1_3'UTR			P32243	OTX2_HUMAN	orthodenticle homeobox 2	201					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ATATGATCCACAGTCCATGCC	0.522																																						ENST00000339475.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(625-627)tGt>tTt		orthodenticle homeobox 2							124.0	109.0	114.0					14																	57268721		2203	4300	6503	SO:0001583	missense	5015				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr14:57268721C>A	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.602G>T	14.37:g.57268721C>A	ENSP00000452336:p.Cys201Phe					OTX2_ENST00000408990.3_Missense_Mutation_p.C201F|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000555006.1_Missense_Mutation_p.C201F	p.C209F	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN			5	902	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		201					B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	c.626G>T	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.549306	0.45383	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	5.53	4.65	0.58169	Transcription factor Otx, C-terminal (1);	0.000000	0.50627	D	0.000101	D	0.96827	0.8964	M	0.83223	2.63	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.77004	0.989;0.985	D	0.96028	0.9014	10	0.29301	T	0.29	.	13.244	0.60014	0.0:0.9235:0.0:0.0765	.	209;201	F1T0D1;P32243	.;OTX2_HUMAN	F	209;201;201;209	ENSP00000343819:C209F;ENSP00000386185:C201F;ENSP00000452336:C201F;ENSP00000451357:C209F	ENSP00000343819:C209F	C	-	2	0	OTX2	56338474	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	1.576000	0.49790	0.655000	0.94253	TGT		0.522	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.		20	79	1	0	1.50039e-11	1	1.62337e-11	20	79				
CYP3A4	1576	broad.mit.edu	37	7	99364768	99364768	+	Missense_Mutation	SNP	C	C	T	rs199908125		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:99364768C>T	ENST00000336411.2	-	8	967	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	RP11-757A13.1_ENST00000608397.1_RNA|CYP3A4_ENST00000354593.2_Missense_Mutation_p.E112K	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	262					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	TGTGTATCTTCGAGGCGACTT	0.308													C|||	1	0.000199681	0.0	0.0	5008	,	,		18181	0.0		0.001	False		,,,				2504	0.0					ENST00000354593.2																			0				breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(334-336)Gaa>Aaa		cytochrome P450, family 3, subfamily A, polypeptide 4	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)						132.0	130.0	130.0					7																	99364768		2203	4300	6503	SO:0001583	missense	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99364768C>T	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.784G>A	7.37:g.99364768C>T	ENSP00000337915:p.Glu262Lys					CYP3A4_ENST00000336411.2_Missense_Mutation_p.E262K	p.E112K			P08684	CP3A4_HUMAN			3	437	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		262					P05184|Q16757|Q9UK50	Missense_Mutation	SNP	ENST00000336411.2	37	c.334G>A	CCDS5674.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.517	-0.863780	0.02590	.	.	ENSG00000160868	ENST00000354593;ENST00000336411	T;T	0.68331	-0.32;-0.32	4.03	-2.66	0.06077	.	0.585786	0.18000	N	0.154922	T	0.24353	0.0590	N	0.01086	-1.025	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.41142	-0.9525	10	0.02654	T	1	.	6.6281	0.22841	0.0:0.0937:0.4522:0.4541	.	112;189;262;262;262	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	K	112;262	ENSP00000346607:E112K;ENSP00000337915:E262K	ENSP00000337915:E262K	E	-	1	0	CYP3A4	99202704	0.000000	0.05858	0.264000	0.24511	0.285000	0.27093	-0.560000	0.05964	-0.247000	0.09597	-1.893000	0.00533	GAA		0.308	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1			14	45	0	0	0	1	0	14	45				
EIF4G3	8672	broad.mit.edu	37	1	21183987	21183987	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:21183987delA	ENST00000264211.8	-	19	3274	c.3080delT	c.(3079-3081)gtcfs	p.V1027fs	EIF4G3_ENST00000374935.3_Frame_Shift_Del_p.V747fs|EIF4G3_ENST00000536266.1_Frame_Shift_Del_p.V631fs|EIF4G3_ENST00000537738.1_Frame_Shift_Del_p.V517fs|EIF4G3_ENST00000602326.1_Frame_Shift_Del_p.V1033fs|EIF4G3_ENST00000374937.3_Frame_Shift_Del_p.V1033fs|EIF4G3_ENST00000400422.1_Frame_Shift_Del_p.V1027fs	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1027					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CACTCTCTGGACACCTGCAGG	0.463																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(3097-3099)gcfs		eukaryotic translation initiation factor 4 gamma, 3							168.0	165.0	166.0					1																	21183987		2203	4300	6503	SO:0001589	frameshift_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21183987delA	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3080delT	1.37:g.21183987delA	ENSP00000264211:p.Val1027fs					EIF4G3_ENST00000537738.1_Frame_Shift_Del_p.V517fs|EIF4G3_ENST00000374935.3_Frame_Shift_Del_p.V747fs|EIF4G3_ENST00000264211.8_Frame_Shift_Del_p.V1027fs|EIF4G3_ENST00000374937.3_Frame_Shift_Del_p.V1033fs|EIF4G3_ENST00000536266.1_Frame_Shift_Del_p.V631fs|EIF4G3_ENST00000400422.1_Frame_Shift_Del_p.V1027fs	p.V1033fs	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	23	3681	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1027					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Frame_Shift_Del	DEL	ENST00000264211.8	37	c.3098delT	CCDS214.1																																																																																				0.463	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		51	225						51	225	---	---	---	---
BMP8A	353500	broad.mit.edu	37	1	39991730	39991731	+	IGR	INS	-	-	GAGT	rs397811952|rs34366175|rs66485723	byFrequency	TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:39991730_39991731insGAGT	ENST00000331593.5	+	0	1692				RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000450157.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a						cartilage development (GO:0051216)|cell differentiation (GO:0030154)|diet induced thermogenesis (GO:0002024)|growth (GO:0040007)|negative regulation of insulin secretion (GO:0046676)|ossification (GO:0001503)|regulation of energy homeostasis (GO:2000505)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCACTGTCTGGAGTCAGCACA	0.589														2504	0.5	0.208	0.5403	5008	,	,		18918	0.5536		0.5328	False		,,,				2504	0.7771					ENST00000458207.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr1:39991730_39991731insGAGT	AY303954	CCDS437.1	1p35-p32	2014-01-30			ENSG00000183682	ENSG00000183682		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	21650	protein-coding gene	gene with protein product							Standard	NM_181809		Approved		uc001cdi.3	Q7Z5Y6	OTTHUMG00000008394		1.37:g.39991731_39991734dupGAGT						RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA								0	241	-								Q5T3A5	RNA	INS	ENST00000331593.5	37		CCDS437.1																																																																																				0.589	BMP8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023079.1	NM_181809		6	5						6	5	---	---	---	---
ATF2	1386	broad.mit.edu	37	2	175957831	175957833	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr2:175957831_175957833delCTC	ENST00000264110.2	-	12	1439_1441	c.1141_1143delGAG	c.(1141-1143)gagdel	p.E381del	ATF2_ENST00000392544.1_In_Frame_Del_p.E381del|ATF2_ENST00000409635.1_In_Frame_Del_p.E323del|ATF2_ENST00000409437.1_In_Frame_Del_p.E265del|ATF2_ENST00000538946.1_In_Frame_Del_p.E363del|ATF2_ENST00000426833.3_In_Frame_Del_p.E363del|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000345739.5_In_Frame_Del_p.E323del|ATF2_ENST00000392543.2_Intron	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	381	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	CAGCTTTCTTCTCTAAAGACTGA	0.35																																					Pancreas(17;87 705 4534 15538 30988)	ENST00000264110.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17						c.(1141-1143)del		activating transcription factor 2																																				SO:0001651	inframe_deletion	1386				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr2:175957831_175957833delCTC	X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	784	protein-coding gene	gene with protein product		123811	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.1141_1143delGAG	2.37:g.175957831_175957833delCTC	ENSP00000264110:p.Glu381del					ATF2_ENST00000392544.1_In_Frame_Del_p.E381del|ATF2_ENST00000538946.1_In_Frame_Del_p.E363del|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000409635.1_In_Frame_Del_p.E323del|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000345739.5_In_Frame_Del_p.E323del|ATF2_ENST00000426833.3_In_Frame_Del_p.E363del|ATF2_ENST00000409437.1_In_Frame_Del_p.E265del	p.E381del	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.125)		12	1439_1441	-			381			Leucine-zipper.		A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	In_Frame_Del	DEL	ENST00000264110.2	37	c.1141_1143delGAG	CCDS2262.1																																																																																				0.350	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880		38	95						38	95	---	---	---	---
RGL2	5863	broad.mit.edu	37	6	33261741	33261741	+	Intron	DEL	G	G	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr6:33261741delG	ENST00000497454.1	-	13	1882				RGL2_ENST00000444031.2_Frame_Shift_Del_p.Q404fs|RGL2_ENST00000437840.2_Intron|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2						positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						AGGGACCCCTGACTTTTCCCC	0.542																																						ENST00000444031.2																			0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.(1210-1212)agfs		ral guanine nucleotide dissociation stimulator-like 2							127.0	139.0	135.0					6																	33261741		2203	4300	6503	SO:0001627	intron_variant	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33261741delG		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1387-48C>-	6.37:g.33261741delG						PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000497454.1_Intron|RGL2_ENST00000437840.2_Intron	p.Q404fs			O15211	RGL2_HUMAN			11	1354	-			462			Ras-GEF.		B4DG72|Q5STK0|Q9Y3F3	Frame_Shift_Del	DEL	ENST00000497454.1	37	c.1210delC	CCDS4774.1																																																																																				0.542	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			76	304						76	304	---	---	---	---
TMEM243	79161	broad.mit.edu	37	7	86827232	86827235	+	Intron	DEL	TGTT	TGTT	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:86827232_86827235delTGTT	ENST00000433078.1	-	4	676				TMEM243_ENST00000481425.1_Intron|TMEM243_ENST00000257637.3_Intron|TMEM243_ENST00000423734.1_Frame_Shift_Del_p.NS86fs			Q9BU79	TM243_HUMAN	transmembrane protein 243, mitochondrial							integral component of membrane (GO:0016021)											TCAAGAACACTGTTTAAATTCTCA	0.387																																						ENST00000423734.1																			0											c.(256-261)gtfs		transmembrane protein 243, mitochondrial																																				SO:0001627	intron_variant	79161							g.chr7:86827232_86827235delTGTT		CCDS5602.1	7q21.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000135185	ENSG00000135185			21707	protein-coding gene	gene with protein product	"""MDR1 and mitochondrial taxol resistance associated gene"""		"""chromosome 7 open reading frame 23"""	C7orf23			Standard	NM_024315		Approved	MGC4175, MM-TRAG	uc003uio.3	Q9BU79	OTTHUMG00000130823	ENST00000433078.1:c.234+21AACA>-	7.37:g.86827232_86827235delTGTT						TMEM243_ENST00000257637.3_Intron|TMEM243_ENST00000433078.1_Intron|TMEM243_ENST00000481425.1_Intron	p.NS86fs							3	382_385	-								A4D1C6|B2R9I4|D6W5P1	Frame_Shift_Del	DEL	ENST00000433078.1	37	c.256_259delAACA	CCDS5602.1																																																																																				0.387	TMEM243-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334412.1	NM_024315		19	41						19	41	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	RNA	DEL	A	A	-	rs532596157		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5																																						389610					integral to membrane		g.chr8:6673270delA	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6673270delA			OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635					Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	1071	-								Q5GH74	RNA	DEL	ENST00000518724.1	37																																																																																						0.502	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		2	4						2	4	---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144886879	144886882	+	Frame_Shift_Del	DEL	GGGA	GGGA	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr8:144886879_144886882delGGGA	ENST00000320476.3	-	21	2871_2874	c.2865_2868delTCCC	c.(2863-2868)cctcccfs	p.PP955fs	SCRIB_ENST00000356994.2_Frame_Shift_Del_p.PP955fs|SCRIB_ENST00000377533.3_Frame_Shift_Del_p.PP874fs	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	955	Interaction with ARHGEF7.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCAGAGGGCTGGGAGGAAGAGGGC	0.696																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(2863-2868)ccfs		scribbled planar cell polarity protein																																				SO:0001589	frameshift_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144886879_144886882delGGGA	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2865_2868delTCCC	8.37:g.144886879_144886882delGGGA	ENSP00000322938:p.Pro955fs					SCRIB_ENST00000320476.3_Frame_Shift_Del_p.PP955fs|SCRIB_ENST00000377533.3_Frame_Shift_Del_p.PP874fs	p.PP955fs	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		21	2871_2874	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		955			Interaction with ARHGEF7.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Frame_Shift_Del	DEL	ENST00000320476.3	37	c.2865_2868delTCCC	CCDS6411.1																																																																																				0.696	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		10	31						10	31	---	---	---	---
RGS3	5998	broad.mit.edu	37	9	116246504	116246506	+	In_Frame_Del	DEL	CTT	CTT	-	rs559478157		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr9:116246504_116246506delCTT	ENST00000374140.2	+	7	821_823	c.612_614delCTT	c.(610-615)cacttc>cac	p.F207del	RGS3_ENST00000350696.5_In_Frame_Del_p.F207del|RGS3_ENST00000317613.6_In_Frame_Del_p.F95del	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	207	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCACGAGCACTTCTTCTTGTAA	0.473																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(610-615)cac>ca		regulator of G-protein signaling 3																																				SO:0001651	inframe_deletion	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116246504_116246506delCTT	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.612_614delCTT	9.37:g.116246510_116246512delCTT	ENSP00000363255:p.Phe207del					RGS3_ENST00000350696.5_In_Frame_Del_p.HF204del|RGS3_ENST00000317613.6_In_Frame_Del_p.HF92del	p.HF204del	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			7	821_823	+			204			C2.		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	In_Frame_Del	DEL	ENST00000374140.2	37	c.612_614delCTT	CCDS43869.1																																																																																				0.473	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		13	88						13	88	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65270886	65270887	+	lincRNA	INS	-	-	TA			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr11:65270886_65270887insTA	ENST00000534336.1	+	0	5654_5655					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		ATTTGCATCTTTAAATAATTTC	0.371																																						ENST00000534336.1																			0																																																			0							g.chr11:65270886_65270887insTA	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65270887_65270888dupTA								NR_002819.2						0	5654_5655	+									RNA	INS	ENST00000534336.1	37																																																																																						0.371	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		12	55						12	55	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118343733	118343735	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr11:118343733_118343735delCTT	ENST00000389506.5	+	3	1859_1861	c.1859_1861delCTT	c.(1858-1863)acttct>act	p.S621del	KMT2A_ENST00000534358.1_In_Frame_Del_p.S621del|KMT2A_ENST00000354520.4_In_Frame_Del_p.S621del			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	621					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TTTAGGTGGACTTCTTTAAAGCA	0.433																																						ENST00000534358.1																			0											c.(1858-1863)act>a		lysine (K)-specific methyltransferase 2A																																				SO:0001651	inframe_deletion	4297							g.chr11:118343733_118343735delCTT	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1859_1861delCTT	11.37:g.118343736_118343738delCTT	ENSP00000374157:p.Ser621del					KMT2A_ENST00000389506.5_In_Frame_Del_p.TS620del|KMT2A_ENST00000354520.4_In_Frame_Del_p.TS620del	p.TS620del	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	1882_1884	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	In_Frame_Del	DEL	ENST00000389506.5	37	c.1859_1861delCTT	CCDS31686.1																																																																																				0.433	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		13	78						13	78	---	---	---	---
RXFP2	122042	broad.mit.edu	37	13	32371470	32371471	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr13:32371470_32371471delTC	ENST00000298386.2	+	17	1990_1991	c.1919_1920delTC	c.(1918-1920)ttcfs	p.F642fs	RXFP2_ENST00000380314.1_Frame_Shift_Del_p.F618fs	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	642					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GCAAATCGTTTCTTTTTTATAG	0.396																																						ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(1918-1920)tfs		relaxin/insulin-like family peptide receptor 2																																				SO:0001589	frameshift_variant	122042					integral to membrane|plasma membrane		g.chr13:32371470_32371471delTC	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1919_1920delTC	13.37:g.32371470_32371471delTC	ENSP00000298386:p.Phe642fs					RXFP2_ENST00000380314.1_Frame_Shift_Del_p.F618fs	p.F642fs	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	17	1990_1991	+		Lung SC(185;0.0262)	642					B1ALE9|Q3KU23	Frame_Shift_Del	DEL	ENST00000298386.2	37	c.1919_1920delTC	CCDS9342.1																																																																																				0.396	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		45	53						45	53	---	---	---	---
ADCY9	115	broad.mit.edu	37	16	4165289	4165291	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:4165289_4165291delGAG	ENST00000294016.3	-	2	691_693	c.153_155delCTC	c.(151-156)tcctct>tct	p.51_52SS>S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	51					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.S52C(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCTGCAGCTAGAGGAGATGCTGT	0.665																																						ENST00000294016.3																			1	Substitution - Missense(1)	p.S52C(1)	cervix(1)	breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(151-156)tct>tc		adenylate cyclase 9																																				SO:0001651	inframe_deletion	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4165289_4165291delGAG	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.153_155delCTC	16.37:g.4165292_4165294delGAG	ENSP00000294016:p.Ser53del						p.SS51del	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	691_693	-			51					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	In_Frame_Del	DEL	ENST00000294016.3	37	c.153_155delCTC	CCDS32382.1																																																																																				0.665	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			9	57						9	57	---	---	---	---
PPL	5493	broad.mit.edu	37	16	4935140	4935142	+	In_Frame_Del	DEL	CTC	CTC	-	rs377184007		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:4935140_4935142delCTC	ENST00000345988.2	-	22	3603_3605	c.3514_3516delGAG	c.(3514-3516)gagdel	p.E1172del	PPL_ENST00000590782.2_In_Frame_Del_p.E1170del	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1172					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCCGCACCTTCTCCTGCACCACC	0.635																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(3514-3516)del		periplakin																																				SO:0001651	inframe_deletion	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4935140_4935142delCTC	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3514_3516delGAG	16.37:g.4935140_4935142delCTC	ENSP00000340510:p.Glu1172del					PPL_ENST00000590782.2_In_Frame_Del_p.E1170del	p.E1172del	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	3603_3605	-			1172					O60314|O60454|Q14C98	In_Frame_Del	DEL	ENST00000345988.2	37	c.3514_3516delGAG	CCDS10526.1																																																																																				0.635	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		25	230						25	230	---	---	---	---
DNAJA2	10294	broad.mit.edu	37	16	46991039	46991040	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:46991039_46991040delCT	ENST00000317089.5	-	9	1355_1356	c.1140_1141delAG	c.(1138-1143)cgaggcfs	p.G381fs		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	381					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)	p.R380R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				CCTCCTGAGCCTCGAGTGCTAT	0.465																																						ENST00000317089.5																			1	Substitution - coding silent(1)	p.R380R(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1138-1143)cggcfs		DnaJ (Hsp40) homolog, subfamily A, member 2																																				SO:0001589	frameshift_variant	10294				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr16:46991039_46991040delCT	AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"""Heat shock proteins / DNAJ (HSP40)"""	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.1140_1141delAG	16.37:g.46991039_46991040delCT	ENSP00000314030:p.Gly381fs						p.RG380fs	NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN			9	1355_1356	-		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)	380					B2R7L7|O14711	Frame_Shift_Del	DEL	ENST00000317089.5	37	c.1140_1141delAG	CCDS10726.1																																																																																				0.465	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2			156	305						156	305	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7576886	7576887	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr17:7576886_7576887insT	ENST00000269305.4	-	9	1148_1149	c.959_960insA	c.(958-960)aagfs	p.K320fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.K320fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Ins_p.K320fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.K320fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Ins_p.K320fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	320	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.		K -> N (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.K320N(3)|p.K320fs*26(2)|p.P318fs*15(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.K320fs*25(1)|p.L308fs*15(1)|p.K320K(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCAGTGGTTTCTTCTTTGGCTG	0.46		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		21	Whole gene deletion(8)|Deletion - Frameshift(6)|Substitution - Missense(3)|Insertion - Frameshift(2)|Unknown(1)|Substitution - coding silent(1)	p.0?(8)|p.K320N(3)|p.K320fs*26(2)|p.P318fs*15(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.K320fs*25(1)|p.L308fs*15(1)|p.K320K(1)	breast(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|ovary(2)|upper_aerodigestive_tract(1)|stomach(1)|urinary_tract(1)|lung(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(958-960)aaafs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576886_7576887insT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.960dupA	17.37:g.7576888_7576888dupT	ENSP00000269305:p.Lys320fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Frame_Shift_Ins_p.K320fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Frame_Shift_Ins_p.K320fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.K320fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.K320fs	p.K320fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1091_1092	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	320		K -> N (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.959_960insA	CCDS11118.1																																																																																				0.460	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		83	21						83	21	---	---	---	---
TBC1D3P3	653017	broad.mit.edu	37	17	20452860	20452861	+	lincRNA	INS	-	-	AGA			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr17:20452860_20452861insAGA	ENST00000591705.1	+	0	4177_4178																											CAGGACCTGGGAGAAGGAGTGC	0.653																																						ENST00000591705.1																			0																																																			0							g.chr17:20452860_20452861insAGA																													17.37:g.20452861_20452863dupAGA														0	4177_4178	+									RNA	INS	ENST00000591705.1	37																																																																																						0.653	RP11-434D2.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000441761.2			3	4						3	4	---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13318673	13318678	+	In_Frame_Del	DEL	CTGCTG	CTGCTG	-	rs16054|rs370146696	byFrequency	TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr19:13318673_13318678delCTGCTG	ENST00000360228.5	-	47	6969_6974	c.6970_6975delCAGCAG	c.(6970-6975)cagcagdel	p.QQ2324del	CACNA1A_ENST00000573710.2_3'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2323	Poly-Gln.				adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGCCACCGCctgctgctgctgctgc	0.767																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(6970-6975)del		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)																																			SO:0001651	inframe_deletion	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13318673_13318678delCTGCTG	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.6970_6975delCAGCAG	19.37:g.13318679_13318684delCTGCTG	ENSP00000353362:p.Gln2324_Gln2325del					CACNA1A_ENST00000573710.2_3'UTR	p.QQ2324del	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		47	6969_6974	-			2323			Poly-Gln.		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	In_Frame_Del	DEL	ENST00000360228.5	37	c.6970_6975delCAGCAG	CCDS45998.1																																																																																				0.767	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		2	4						2	4	---	---	---	---
LMTK3	114783	broad.mit.edu	37	19	49003052	49003052	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr19:49003052delG	ENST00000600059.1	-	11	1501	c.1274delC	c.(1273-1275)ccafs	p.P426fs	LMTK3_ENST00000270238.3_Frame_Shift_Del_p.P455fs			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	426	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GTCTCGGGGTGGGGGTGGCGG	0.716																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(1273-1275)cafs		lemur tyrosine kinase 3							2.0	3.0	2.0					19																	49003052		1184	2788	3972	SO:0001589	frameshift_variant	114783							g.chr19:49003052delG	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.1274delC	19.37:g.49003052delG	ENSP00000472020:p.Pro426fs					LMTK3_ENST00000270238.3_Frame_Shift_Del_p.P455fs	p.P426fs						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	11	1501	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Frame_Shift_Del	DEL	ENST00000600059.1	37	c.1274delC																																																																																					0.716	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		2	4						2	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76938097	76938100	+	Frame_Shift_Del	DEL	TCTT	TCTT	-	rs200343648|rs587778086		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chrX:76938097_76938100delTCTT	ENST00000373344.5	-	9	2862_2865	c.2648_2651delAAGA	c.(2647-2652)caagagfs	p.QE883fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.QE845fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	883					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGTCTCTCTCTCTTGTTTTCTTTC	0.407			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2647-2652)cgfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938097_76938100delTCTT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2648_2651delAAGA	X.37:g.76938097_76938100delTCTT	ENSP00000362441:p.Gln883fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.QE845fs|ATRX_ENST00000480283.1_5'UTR	p.QE883fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2862_2865	-			883					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2648_2651delAAGA	CCDS14434.1																																																																																				0.407	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		79	28						79	28	---	---	---	---
