#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
CELA3B	23436	broad.mit.edu	37	1	22313121	22313121	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:22313121G>A	ENST00000337107.6	+	7	759	c.740G>A	c.(739-741)cGc>cAc	p.R247H	RN7SL386P_ENST00000485776.2_RNA|CELA3B_ENST00000473526.1_3'UTR|RNU6-1022P_ENST00000365049.1_RNA	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	247	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TGCAACACCCGCAGGAAGCCC	0.622																																						uc001bfk.2																			0				ovary(1)	1						c.(739-741)CGC>CAC		elastase 3B, pancreatic preproprotein							78.0	69.0	72.0					1																	22313121		2203	4300	6503	SO:0001583	missense	23436				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:22313121G>A	M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"""proteinase E"", ""elastase 1"", ""cholesterol-binding pancreatic protease"", ""pancreatic endopeptidase E"""		"""elastase 3B, pancreatic"""	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.740G>A	1.37:g.22313121G>A	ENSP00000338369:p.Arg247His					CELA3B_uc009vqf.2_Intron	p.R247H	NM_007352	NP_031378	P08861	CEL3B_HUMAN			7	855	+			247			Peptidase S1.		B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Missense_Mutation	SNP	ENST00000337107.6	37	c.740G>A	CCDS219.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.803409	0.00611	.	.	ENSG00000219073	ENST00000337107;ENST00000400277	D;D	0.88818	-2.43;-2.43	4.05	-8.09	0.01090	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	5.081690	0.00397	N	0.000044	T	0.74191	0.3684	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.66941	-0.5796	10	0.16420	T	0.52	4.6722	2.678	0.05085	0.266:0.0702:0.37:0.2937	.	247	P08861	CEL3B_HUMAN	H	247;150	ENSP00000338369:R247H;ENSP00000383135:R150H	ENSP00000338369:R247H	R	+	2	0	CELA3B	22185708	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.967000	0.00088	-2.480000	0.00523	-3.385000	0.00040	CGC		0.622	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007797.1	NM_007352	
ZNF683	257101	broad.mit.edu	37	1	26691223	26691223	+	Nonsense_Mutation	SNP	G	G	A	rs374469495		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:26691223G>A	ENST00000436292.1	-	4	934	c.814C>T	c.(814-816)Cga>Tga	p.R272*	ZNF683_ENST00000349618.3_Nonsense_Mutation_p.R272*|ZNF683_ENST00000374204.1_Nonsense_Mutation_p.R272*|ZNF683_ENST00000403843.1_Nonsense_Mutation_p.R272*			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	272					natural killer cell differentiation (GO:0001779)|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)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CCTGGATTTCGGGCCTGGGAA	0.652																																						uc001bmg.1																			0					0						c.(814-816)CGA>TGA		zinc finger protein 683							41.0	44.0	43.0					1																	26691223		2203	4300	6503	SO:0001587	stop_gained	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26691223G>A	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.814C>T	1.37:g.26691223G>A	ENSP00000388792:p.Arg272*					ZNF683_uc001bmh.1_Nonsense_Mutation_p.R272*|ZNF683_uc009vsj.1_Nonsense_Mutation_p.R272*	p.R272*	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	4	932	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	272					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Nonsense_Mutation	SNP	ENST00000436292.1	37	c.814C>T		.	.	.	.	.	.	.	.	.	.	G	14.26	2.481636	0.44147	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618;ENST00000455900	.	.	.	4.74	-9.48	0.00591	.	3.101020	0.01060	N	0.004627	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	7.1035	1.2168	0.01916	0.2111:0.193:0.1455:0.4503	.	.	.	.	X	272;272;272;272;280	.	ENSP00000344095:R272X	R	-	1	2	ZNF683	26563810	0.000000	0.05858	0.000000	0.03702	0.408000	0.30992	-1.543000	0.02194	-2.075000	0.00876	0.561000	0.74099	CGA		0.652	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574	
SPTA1	6708	broad.mit.edu	37	1	158614117	158614117	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:158614117C>T	ENST00000368147.4	-	30	4444	c.4264G>A	c.(4264-4266)Gac>Aac	p.D1422N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1422					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAACTTTTGTCATCTGACCTC	0.443																																						uc001fst.1																			0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4264-4266)GAC>AAC		spectrin, alpha, erythrocytic 1							106.0	105.0	105.0					1																	158614117		1947	4140	6087	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158614117C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4264G>A	1.37:g.158614117C>T	ENSP00000357129:p.Asp1422Asn						p.D1422N	NM_003126	NP_003117	P02549	SPTA1_HUMAN			30	4463	-	all_hematologic(112;0.0378)		1422			Spectrin 14.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4264G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031927	0.75504	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.38077	1.16;1.16	5.33	4.42	0.53409	.	0.303702	0.18449	N	0.140894	T	0.44540	0.1298	M	0.76433	2.335	0.44789	D	0.997796	D	0.52996	0.957	D	0.64410	0.925	T	0.43829	-0.9367	10	0.46703	T	0.11	.	9.3594	0.38186	0.0:0.8366:0.0:0.1634	.	1422	P02549	SPTA1_HUMAN	N	1422	ENSP00000357130:D1422N;ENSP00000357129:D1422N	ENSP00000357129:D1422N	D	-	1	0	SPTA1	156880741	1.000000	0.71417	0.193000	0.23327	0.722000	0.41435	4.382000	0.59594	1.485000	0.48380	0.591000	0.81541	GAC		0.443	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
CNTN2	6900	broad.mit.edu	37	1	205033757	205033758	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:205033757_205033758delTG	ENST00000331830.4	+	12	1682_1683	c.1398_1399delTG	c.(1396-1401)actgtafs	p.V467fs	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	467	Ig-like C2-type 5.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACAGAGTGACTGTAACTCCAGA	0.525																																					Melanoma(183;2548 2817 37099 41192)	uc001hbr.2																			0				ovary(1)	1						c.(1396-1401)ACTGTAfs		contactin 2 precursor																																				SO:0001589	frameshift_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205033757_205033758delTG	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1398_1399delTG	1.37:g.205033757_205033758delTG	ENSP00000330633:p.Val467fs					CNTN2_uc001hbq.1_Frame_Shift_Del_p.T357fs|CNTN2_uc001hbs.2_Frame_Shift_Del_p.T254fs	p.T466fs	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		12	1667_1668	+	all_cancers(21;0.144)|Breast(84;0.0437)		466_467			Ig-like C2-type 5.		P78432|Q5T054	Frame_Shift_Del	DEL	ENST00000331830.4	37	c.1398_1399delTG	CCDS1449.1																																																																																				0.525	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076	
OBSCN	84033	broad.mit.edu	37	1	228468436	228468436	+	Silent	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:228468436C>T	ENST00000422127.1	+	30	8180	c.8136C>T	c.(8134-8136)gaC>gaT	p.D2712D	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.D2712D|OBSCN_ENST00000570156.2_Silent_p.D3141D|OBSCN_ENST00000359599.6_Silent_p.D1559D|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2712	Ig-like 26.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCCTGAAGACGCCGGCCTGT	0.692																																						uc009xez.1																			0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(8134-8136)GAC>GAT		obscurin, cytoskeletal calmodulin and							23.0	29.0	27.0					1																	228468436		2081	4202	6283	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228468436C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8136C>T	1.37:g.228468436C>T						OBSCN_uc001hsn.2_Silent_p.D2712D|OBSCN_uc001hsp.1_Silent_p.D411D|OBSCN_uc001hsq.1_Translation_Start_Site	p.D2712D	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			30	8180	+		Prostate(94;0.0405)	2712			Ig-like 26.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.8136C>T	CCDS58065.1																																																																																				0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
JMJD1C	221037	broad.mit.edu	37	10	64954062	64954062	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr10:64954062T>A	ENST00000399262.2	-	14	5936	c.5718A>T	c.(5716-5718)caA>caT	p.Q1906H	JMJD1C_ENST00000402544.1_Missense_Mutation_p.Q1687H|JMJD1C_ENST00000542921.1_Missense_Mutation_p.Q1724H|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1906					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CAGGTATAATTTGGGTTGGCA	0.333																																						uc001jmn.2																			0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(5716-5718)CAA>CAT		jumonji domain containing 1C isoform a							156.0	144.0	148.0					10																	64954062		1856	4110	5966	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64954062T>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5718A>T	10.37:g.64954062T>A	ENSP00000382204:p.Gln1906His					JMJD1C_uc001jml.2_Missense_Mutation_p.Q1687H|JMJD1C_uc001jmm.2_Missense_Mutation_p.Q1618H|JMJD1C_uc010qiq.1_Missense_Mutation_p.Q1724H|JMJD1C_uc009xpi.2_Missense_Mutation_p.Q1724H|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.Q804H	p.Q1906H	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			14	6018	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1906					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.5718A>T	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.9|22.9	4.351567|4.351567	0.82132|0.82132	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000327520|ENST00000399262;ENST00000402544;ENST00000542921	.|D;T;T	.|0.87103	.|-2.21;-0.38;-0.08	5.49|5.49	-3.05|-3.05	0.05396|0.05396	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92890|0.92890	0.7738|0.7738	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.70227	.|0.935;0.935;0.968	D|D	0.92716|0.92716	0.6187|0.6187	5|10	.|0.87932	.|D	.|0	-11.6286|-11.6286	15.3897|15.3897	0.74731|0.74731	0.0:0.7349:0.0:0.2651|0.0:0.7349:0.0:0.2651	.|.	.|1447;1906;1724	.|A6PW35;Q15652;A0T124	.|.;JHD2C_HUMAN;.	I|H	453|1906;1687;1724	.|ENSP00000382204:Q1906H;ENSP00000384990:Q1687H;ENSP00000444682:Q1724H	.|ENSP00000382204:Q1906H	K|Q	-|-	2|3	0|2	JMJD1C|JMJD1C	64624068|64624068	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.992000|0.992000	0.81027|0.81027	0.907000|0.907000	0.28531|0.28531	-0.476000|-0.476000	0.06842|0.06842	-0.250000|-0.250000	0.11733|0.11733	AAA|CAA		0.333	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241	
PDCD11	22984	broad.mit.edu	37	10	105204397	105204397	+	Missense_Mutation	SNP	A	A	G	rs377470805		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr10:105204397A>G	ENST00000369797.3	+	35	5496	c.5402A>G	c.(5401-5403)tAt>tGt	p.Y1801C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1801					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGGTCGGTCTATATCGACATG	0.597																																						uc001kwy.1																			0				ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(5401-5403)TAT>TGT		programmed cell death 11		A	CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	128.0	112.0	118.0		5402	4.4	1.0	10		118	0,8600		0,0,4300	no	missense	PDCD11	NM_014976.1	194	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	1801/1872	105204397	1,13005	2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105204397A>G	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.5402A>G	10.37:g.105204397A>G	ENSP00000358812:p.Tyr1801Cys						p.Y1801C	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	35	5489	+		Colorectal(252;0.0747)|Breast(234;0.128)	1801			HAT 3.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.5402A>G	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.670599	0.67814	2.27E-4	0.0	ENSG00000148843	ENST00000369797	T	0.61392	0.11	5.57	4.41	0.53225	Tetratricopeptide-like helical (1);Suppressor of forked (1);	0.104288	0.64402	D	0.000002	T	0.78136	0.4236	M	0.90705	3.14	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	T	0.81486	-0.0911	10	0.87932	D	0	-10.5766	11.7856	0.52041	0.8682:0.0:0.0:0.1318	.	1801	Q14690	RRP5_HUMAN	C	1801	ENSP00000358812:Y1801C	ENSP00000358812:Y1801C	Y	+	2	0	PDCD11	105194387	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	5.854000	0.69503	0.906000	0.36621	0.459000	0.35465	TAT		0.597	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1		
CHID1	66005	broad.mit.edu	37	11	902312	902312	+	Missense_Mutation	SNP	C	C	T	rs373864240		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr11:902312C>T	ENST00000449825.1	-	4	636	c.280G>A	c.(280-282)Gat>Aat	p.D94N	CHID1_ENST00000336845.5_Missense_Mutation_p.D119N|CHID1_ENST00000528581.1_Missense_Mutation_p.D119N|CHID1_ENST00000323578.8_Missense_Mutation_p.D94N|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000454838.2_Missense_Mutation_p.D119N|CHID1_ENST00000323541.7_Missense_Mutation_p.D124N|CHID1_ENST00000436108.2_Missense_Mutation_p.D94N|CHID1_ENST00000429789.2_Missense_Mutation_p.D94N	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	94					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		TTGGTGACATCGTAGCCATGG	0.562																																					Pancreas(117;992 2327 5172 41921)	uc001lsl.2																			0					0						c.(280-282)GAT>AAT		chitinase domain containing 1 isoform a		C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	171.0	134.0	146.0		280,280,355,280,280	4.0	0.9	11		146	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,missense	CHID1	NM_001142674.1,NM_001142675.1,NM_001142676.1,NM_001142677.1,NM_023947.3	23,23,23,23,23	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	94/394,94/394,119/419,94/363,94/394	902312	1,13003	2203	4299	6502	SO:0001583	missense	66005				chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	g.chr11:902312C>T	AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.280G>A	11.37:g.902312C>T	ENSP00000391255:p.Asp94Asn					CHID1_uc010qwu.1_Missense_Mutation_p.D124N|CHID1_uc010qwv.1_Missense_Mutation_p.D155N|CHID1_uc001lsn.2_Missense_Mutation_p.D119N|CHID1_uc001lsm.2_Missense_Mutation_p.D94N|CHID1_uc001lso.2_Missense_Mutation_p.D94N|CHID1_uc001lsp.2_Missense_Mutation_p.D94N|CHID1_uc010qww.1_Missense_Mutation_p.D94N	p.D94N	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)	4	441	-		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	94					B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Missense_Mutation	SNP	ENST00000449825.1	37	c.280G>A	CCDS7722.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413234	0.62511	0.0	1.16E-4	ENSG00000177830	ENST00000323541;ENST00000449825;ENST00000454838;ENST00000323578;ENST00000429789;ENST00000528581;ENST00000336845;ENST00000436108;ENST00000531859;ENST00000533056;ENST00000533059;ENST00000530939	T;T;T;T;T;T;T;T	0.30981	3.45;3.45;3.45;3.45;1.51;3.45;3.45;3.45	3.96	3.96	0.45880	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.047898	0.85682	D	0.000000	T	0.50394	0.1613	M	0.68593	2.085	0.80722	D	1	P;P;D;B;P	0.76494	0.491;0.826;0.999;0.299;0.625	B;B;D;B;B	0.70716	0.196;0.252;0.97;0.124;0.223	T	0.44682	-0.9312	10	0.25106	T	0.35	-14.7389	15.2934	0.73885	0.0:1.0:0.0:0.0	.	155;124;94;119;94	B4DN31;B7Z705;Q9BWS9-3;Q9BWS9-2;Q9BWS9	.;.;.;.;CHID1_HUMAN	N	124;94;119;94;94;119;119;94;94;94;94;94	ENSP00000324821:D124N;ENSP00000391255:D94N;ENSP00000398722:D119N;ENSP00000325055:D94N;ENSP00000416034:D94N;ENSP00000435503:D119N;ENSP00000338838:D119N;ENSP00000388156:D94N	ENSP00000324821:D124N	D	-	1	0	CHID1	892312	0.978000	0.34361	0.866000	0.34008	0.992000	0.81027	2.838000	0.48199	2.223000	0.72356	0.563000	0.77884	GAT		0.562	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947	
WT1	7490	broad.mit.edu	37	11	32413578	32413578	+	Nonsense_Mutation	SNP	G	G	A	rs121907909		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr11:32413578G>A	ENST00000379079.2	-	9	1009	c.736C>T	c.(736-738)Cga>Tga	p.R246*	WT1_ENST00000448076.3_Nonsense_Mutation_p.R458*|WT1_ENST00000530998.1_Nonsense_Mutation_p.R229*|WT1_ENST00000332351.3_Nonsense_Mutation_p.R458*	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	390					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R390*(9)|p.V380_S410del(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GAGAACTTTCGCTGACAAGTT	0.458			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													uc001mtn.1			yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	D|Mis|N|F|S	Wilms tumour 1 gene			O	EWSR1	Wilms	Wilms|desmoplastic small round cell tumor	EWSR1/WT1(231)	10	Substitution - Nonsense(9)|Deletion - In frame(1)	p.R390*(9)|p.V380_S410del(1)	kidney(6)|haematopoietic_and_lymphoid_tissue(4)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	GRCh37	CM971596	WT1	M	rs121907909	c.(1372-1374)CGA>TGA		Wilms tumor 1 isoform D							178.0	171.0	173.0					11																	32413578		2202	4299	6501	SO:0001587	stop_gained	7490	Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32413578G>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.736C>T	11.37:g.32413578G>A	ENSP00000368370:p.Arg246*					WT1_uc001mtl.1_Nonsense_Mutation_p.R246*|WT1_uc001mtm.1_Nonsense_Mutation_p.R229*|WT1_uc001mto.1_Nonsense_Mutation_p.R458*|WT1_uc001mtp.1_Nonsense_Mutation_p.R441*|WT1_uc001mtq.1_Nonsense_Mutation_p.R441*|WT1_uc009yjs.1_RNA	p.R458*	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		9	1568	-	Breast(20;0.247)		390			C2H2-type 3.		A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Nonsense_Mutation	SNP	ENST00000379079.2	37	c.1372C>T	CCDS55751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.146895|8.146895	0.98678|0.98678	.|.	.|.	ENSG00000184937|ENSG00000184937	ENST00000527882|ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	.|.	.|.	.|.	6.04|6.04	5.07|5.07	0.68467|0.68467	.|.	.|0.000000	.|0.64402	.|U	.|0.000002	T|.	0.34890|.	0.0913|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26950|.	-1.0088|.	3|.	.|0.02654	.|T	.|1	.|.	13.9745|13.9745	0.64262|0.64262	0.0:0.0:0.7756:0.2244|0.0:0.0:0.7756:0.2244	.|.	.|.	.|.	.|.	V|X	118|246;458;229;441;458	.|.	.|ENSP00000331327:R458X	A|R	-|-	2|1	0|2	WT1|WT1	32370154|32370154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.624000|4.624000	0.61254|0.61254	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GCG|CGA		0.458	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378	
OR5W2	390148	broad.mit.edu	37	11	55681478	55681478	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr11:55681478A>T	ENST00000344514.1	-	1	580	c.581T>A	c.(580-582)gTc>gAc	p.V194D		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TAACTCATTGACCTGTGTATC	0.393																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1																			0				ovary(1)|skin(1)	2						c.(580-582)GTC>GAC		olfactory receptor, family 5, subfamily W,							64.0	65.0	64.0					11																	55681478		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681478A>T	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.581T>A	11.37:g.55681478A>T	ENSP00000342448:p.Val194Asp						p.V194D	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	581	-			194			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000344514.1	37	c.581T>A	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.431402	0.62844	.	.	ENSG00000187612	ENST00000344514	T	0.00193	8.58	5.0	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.211136	0.23560	N	0.046868	T	0.00440	0.0014	M	0.75777	2.31	0.35513	D	0.800808	P	0.41947	0.766	P	0.57620	0.824	T	0.67745	-0.5591	10	0.87932	D	0	.	8.8033	0.34923	0.9092:0.0:0.0908:0.0	.	194	Q8NH69	OR5W2_HUMAN	D	194	ENSP00000342448:V194D	ENSP00000342448:V194D	V	-	2	0	OR5W2	55438054	0.001000	0.12720	0.295000	0.24960	0.773000	0.43773	1.464000	0.35288	0.751000	0.32900	0.443000	0.29094	GTC		0.393	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960	
ATM	472	broad.mit.edu	37	11	108143569	108143572	+	Frame_Shift_Del	DEL	TCAA	TCAA	-			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr11:108143569_108143572delTCAA	ENST00000452508.2	+	23	3463_3466	c.3274_3277delTCAA	c.(3274-3279)tcaatcfs	p.SI1092fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.SI1092fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1092					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGCTGCAGAGTCAATCAATAGGTA	0.363			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240	GRCh37	CM053096	ATM	M		c.(3274-3279)TCAATCfs	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1																																				SO:0001589	frameshift_variant	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108143569_108143572delTCAA	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3274_3277delTCAA	11.37:g.108143573_108143576delTCAA	ENSP00000388058:p.Ser1092fs	TSP Lung(14;0.12)				ATM_uc009yxr.1_Frame_Shift_Del_p.S1092fs	p.S1092fs	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	22	3659_3662	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1092_1093					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.3274_3277delTCAA	CCDS31669.1																																																																																				0.363	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
FOXM1	2305	broad.mit.edu	37	12	2975658	2975658	+	Silent	SNP	G	G	A	rs373291558		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:2975658G>A	ENST00000359843.3	-	5	944	c.876C>T	c.(874-876)caC>caT	p.H292H	FOXM1_ENST00000361953.3_Silent_p.H292H|FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000342628.2_Silent_p.H292H	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	292					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CAAACATGTCGTGCAGGGAAA	0.502																																						uc001qlf.2																			0				central_nervous_system(1)|skin(1)	2						c.(874-876)CAC>CAT		forkhead box M1 isoform 2		G	,,	0,4406		0,0,2203	87.0	81.0	83.0		876,876,876	-8.5	0.3	12		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	FOXM1	NM_021953.3,NM_202002.2,NM_202003.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	292/764,292/802,292/749	2975658	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2975658G>A	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.876C>T	12.37:g.2975658G>A						FOXM1_uc001qle.2_Silent_p.H292H|FOXM1_uc001qlg.2_Silent_p.H292H|FOXM1_uc009zea.2_Silent_p.H291H|FOXM1_uc009zeb.2_Silent_p.H291H	p.H292H	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		5	1141	-			292			Fork-head.		O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	c.876C>T	CCDS8515.1	.	.	.	.	.	.	.	.	.	.	G	7.422	0.637023	0.14386	0.0	1.16E-4	ENSG00000111206	ENST00000535350	.	.	.	5.95	-8.47	0.00939	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4986	0.95083	0.3143:0.0:0.6857:0.0	.	.	.	.	X	17	.	.	R	-	1	2	FOXM1	2845919	0.347000	0.24853	0.350000	0.25708	0.802000	0.45316	-0.208000	0.09371	-2.071000	0.00880	-1.931000	0.00510	CGA		0.502	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953	
FAM90A1	55138	broad.mit.edu	37	12	8376154	8376154	+	Splice_Site	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:8376154C>T	ENST00000538603.1	-	6	882		c.e6-1		FAM90A1_ENST00000307435.6_Splice_Site	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1								nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GTCTTGTGGCCTGCAGAACAG	0.542																																						uc001qui.2																			0				ovary(1)	1						c.e6-1		hypothetical protein LOC55138							29.0	29.0	29.0					12																	8376154		2201	4296	6497	SO:0001630	splice_region_variant	55138						nucleic acid binding|zinc ion binding	g.chr12:8376154C>T	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.324-1G>A	12.37:g.8376154C>T						FAM90A1_uc001quh.2_Splice_Site_p.R108_splice	p.R108_splice	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	6	883	-								D3DUU9|Q9NVZ6	Splice_Site	SNP	ENST00000538603.1	37	c.324_splice	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	c	3.798	-0.042191	0.07452	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	.	.	.	1.06	1.06	0.20224	.	.	.	.	.	.	.	.	.	.	.	0.23776	N	0.99688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4276	0.16436	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM90A1	8267421	0.006000	0.16342	0.080000	0.20451	0.022000	0.10575	0.256000	0.18351	0.870000	0.35726	0.205000	0.17691	.		0.542	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088	Intron
PTPRO	5800	broad.mit.edu	37	12	15650274	15650274	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:15650274G>A	ENST00000281171.4	+	3	775	c.445G>A	c.(445-447)Gtt>Att	p.V149I	PTPRO_ENST00000348962.2_Missense_Mutation_p.V149I|PTPRO_ENST00000543886.1_Missense_Mutation_p.V149I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	149	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAAATATAACGTTTTCACAAG	0.378																																						uc001rcv.1																			0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(445-447)GTT>ATT		receptor-type protein tyrosine phosphatase O							104.0	112.0	109.0					12																	15650274		2203	4299	6502	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15650274G>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.445G>A	12.37:g.15650274G>A	ENSP00000281171:p.Val149Ile					PTPRO_uc001rcw.1_Missense_Mutation_p.V149I|PTPRO_uc001rcu.1_Missense_Mutation_p.V149I	p.V149I	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			3	619	+		Hepatocellular(102;0.244)	149			Fibronectin type-III 2.|Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.445G>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349685	0.41599	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.04194	3.72;3.68	4.81	4.81	0.61882	.	0.000000	0.44902	D	0.000420	T	0.03136	0.0092	N	0.04508	-0.205	0.80722	D	1	P;P;D	0.53619	0.725;0.605;0.961	B;B;B	0.40285	0.073;0.033;0.325	T	0.63695	-0.6579	10	0.30854	T	0.27	.	18.0727	0.89415	0.0:0.0:1.0:0.0	.	149;149;149	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	I	149	ENSP00000281171:V149I;ENSP00000343434:V149I	ENSP00000281171:V149I	V	+	1	0	PTPRO	15541541	1.000000	0.71417	0.978000	0.43139	0.931000	0.56810	4.991000	0.63883	2.497000	0.84241	0.655000	0.94253	GTT		0.378	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1		
ANP32D	23519	broad.mit.edu	37	12	48866783	48866783	+	Missense_Mutation	SNP	A	A	C			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:48866783A>C	ENST00000266594.1	+	1	336	c.336A>C	c.(334-336)ttA>ttC	p.L112F		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	112						nuclear matrix (GO:0016363)		p.L112_E113>*(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TGAAAAAGTTAGAAAACCTCG	0.408																																						uc010slt.1																			1	Complex - deletion inframe(1)	p.L112_E113>*(1)	ovary(1)	ovary(1)|central_nervous_system(1)	2						c.(334-336)TTA>TTC		acidic nuclear phosphoprotein 32D							83.0	83.0	83.0					12																	48866783		2203	4300	6503	SO:0001583	missense	23519							g.chr12:48866783A>C	U71084	CCDS31788.1	12q13.12	2008-08-04			ENSG00000139223	ENSG00000139223		"""ANP32 acidic nuclear phosphoproteins"""	16676	protein-coding gene	gene with protein product	"""pp32 related 2"""	606878				10086381, 10400610	Standard	NM_012404		Approved	PP32R2	uc010slt.2	O95626	OTTHUMG00000162681	ENST00000266594.1:c.336A>C	12.37:g.48866783A>C	ENSP00000266594:p.Leu112Phe						p.L112F	NM_012404	NP_036536	O95626	AN32D_HUMAN			1	336	+			112					Q6NTC4	Missense_Mutation	SNP	ENST00000266594.1	37	c.336A>C	CCDS31788.1	.	.	.	.	.	.	.	.	.	.	A	15.45	2.836492	0.50951	.	.	ENSG00000139223	ENST00000266594	T	0.71698	-0.59	1.67	-3.35	0.04928	.	0.000000	0.85682	D	0.000000	T	0.71056	0.3295	L	0.49778	1.585	0.49915	D	0.999836	D	0.89917	1.0	D	0.97110	1.0	T	0.66654	-0.5869	10	0.39692	T	0.17	.	3.6682	0.08264	0.4636:0.0:0.3609:0.1755	.	112	O95626	AN32D_HUMAN	F	112	ENSP00000266594:L112F	ENSP00000266594:L112F	L	+	3	2	ANP32D	47153050	1.000000	0.71417	0.001000	0.08648	0.750000	0.42670	1.603000	0.36794	-1.518000	0.01778	-0.540000	0.04249	TTA		0.408	ANP32D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370058.1	NM_012404	
NR4A1	3164	broad.mit.edu	37	12	52451031	52451031	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:52451031G>A	ENST00000243050.1	+	6	1663	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	NR4A1_ENST00000545748.1_Missense_Mutation_p.R504H|NR4A1_ENST00000394824.2_Missense_Mutation_p.R450H|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000394825.1_Missense_Mutation_p.R450H|NR4A1_ENST00000360284.3_Missense_Mutation_p.R463H|NR4A1_ENST00000550082.1_Missense_Mutation_p.R463H	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	450	Ligand-binding. {ECO:0000255}.				cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TTCATCCTCCGCCTGGCGTAC	0.612																																						uc001rzs.2																			0					0						c.(1348-1350)CGC>CAC		nuclear receptor subfamily 4, group A, member 1							38.0	36.0	37.0					12																	52451031		2203	4300	6503	SO:0001583	missense	3164				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52451031G>A	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.1349G>A	12.37:g.52451031G>A	ENSP00000243050:p.Arg450His					NR4A1_uc010sno.1_Missense_Mutation_p.R463H|NR4A1_uc001rzt.2_Missense_Mutation_p.R450H|NR4A1_uc009zmc.2_Missense_Mutation_p.A64T	p.R450H	NM_002135	NP_002126	P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	6	1663	+			450			Ligand-binding (Potential).		B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	ENST00000243050.1	37	c.1349G>A	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	G	33	5.194342	0.94960	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	D;D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0;-4.0	5.12	5.12	0.69794	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98566	0.9521	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99260	1.0890	10	0.87932	D	0	.	17.8627	0.88786	0.0:0.0:1.0:0.0	.	463;450	B4DML7;P22736	.;NR4A1_HUMAN	H	463;504;463;450;450;450	ENSP00000353427:R463H;ENSP00000440864:R504H;ENSP00000449539:R463H;ENSP00000243050:R450H;ENSP00000378302:R450H;ENSP00000378301:R450H	ENSP00000243050:R450H	R	+	2	0	NR4A1	50737298	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.595000	0.98260	2.837000	0.97791	0.655000	0.94253	CGC		0.612	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2		
EFS	10278	broad.mit.edu	37	14	23829158	23829158	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr14:23829158C>T	ENST00000216733.3	-	4	1136	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	EFS_ENST00000351354.3_Missense_Mutation_p.A84T|EFS_ENST00000429593.2_Missense_Mutation_p.A84T|RP11-124D2.3_ENST00000554010.1_RNA	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	177	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGCTGCGGGGCAACCCGGGTC	0.652																																						uc001wjo.2																			0				large_intestine(1)	1						c.(529-531)GCC>ACC		embryonal Fyn-associated substrate isoform 1							36.0	46.0	42.0					14																	23829158		2085	4019	6104	SO:0001583	missense	10278				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23829158C>T	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.529G>A	14.37:g.23829158C>T	ENSP00000216733:p.Ala177Thr					EFS_uc001wjp.2_Missense_Mutation_p.A84T|EFS_uc010tnm.1_Missense_Mutation_p.A84T	p.A177T	NM_005864	NP_005855	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	4	1137	-	all_cancers(95;7.12e-06)		177			Pro-rich.		B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	37	c.529G>A	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	C	5.997	0.367918	0.11352	.	.	ENSG00000100842	ENST00000216733;ENST00000351354;ENST00000429593	T;T;T	0.57273	0.41;0.6;0.7	5.25	1.04	0.20106	.	1.593040	0.03336	N	0.194084	T	0.44138	0.1279	L	0.54323	1.7	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.11329	0.001;0.006;0.001	T	0.09079	-1.0691	10	0.12430	T	0.62	0.2623	3.4065	0.07343	0.1452:0.5617:0.128:0.1651	.	84;84;177	B4DJ56;O43281-2;O43281	.;.;EFS_HUMAN	T	177;84;84	ENSP00000216733:A177T;ENSP00000340607:A84T;ENSP00000416684:A84T	ENSP00000216733:A177T	A	-	1	0	EFS	22898998	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.267000	0.08619	0.365000	0.24400	0.514000	0.50259	GCC		0.652	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2		
GOLGA6L3	100133220	broad.mit.edu	37	15	83014106	83014106	+	Silent	SNP	T	T	C	rs62009901		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr15:83014106T>C	ENST00000557886.1	-	6	576	c.477A>G	c.(475-477)gtA>gtG	p.V159V															p.V159V(12)		endometrium(6)|kidney(5)|prostate(1)	12						GTAGCTGCTCTACCTTAGATG	0.498																																						uc010uny.1																			12	Substitution - coding silent(12)		kidney(6)|endometrium(4)|prostate(2)		0						c.(439-441)GTA>GTG		golgi autoantigen, golgin subfamily a, 6D-like																																				SO:0001819	synonymous_variant	647042							g.chr15:83014106T>C																												ENST00000557886.1:c.477A>G	15.37:g.83014106T>C						GOLGA6L10_uc010unt.1_RNA|uc002bhl.2_Intron|uc002bhm.2_Intron|GOLGA6L10_uc002bia.1_5'Flank	p.V147V	NM_198181	NP_937824	A6NI86	GG6LA_HUMAN			6	539	-			159			Potential.			Silent	SNP	ENST00000557886.1	37	c.441A>G																																																																																					0.498	RP13-996F3.4-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419277.1		
CPPED1	55313	broad.mit.edu	37	16	12798557	12798557	+	Silent	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr16:12798557G>A	ENST00000381774.4	-	3	879	c.639C>T	c.(637-639)atC>atT	p.I213I	CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	213	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CGTCCTCGTCGATGCTCTCCA	0.602																																						uc002dca.3																			0					0						c.(637-639)ATC>ATT		calcineurin-like phosphoesterase domain							93.0	95.0	94.0					16																	12798557		2128	4257	6385	SO:0001819	synonymous_variant	55313						hydrolase activity|metal ion binding	g.chr16:12798557G>A	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.639C>T	16.37:g.12798557G>A						CPPED1_uc002dcb.3_Intron|CPPED1_uc002dbz.3_RNA	p.I213I	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN			3	750	-			213					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Silent	SNP	ENST00000381774.4	37	c.639C>T	CCDS42120.1																																																																																				0.602	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340	
EFNB3	1949	broad.mit.edu	37	17	7612770	7612770	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:7612770G>A	ENST00000226091.2	+	5	1296	c.899G>A	c.(898-900)gGc>gAc	p.G300D		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	300					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CTGCGGGGTGGCGGGGCTGCA	0.667																																						uc002gis.2																			0				ovary(1)	1						c.(898-900)GGC>GAC		ephrin-B3 precursor							44.0	43.0	43.0					17																	7612770		2199	4291	6490	SO:0001583	missense	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612770G>A	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.899G>A	17.37:g.7612770G>A	ENSP00000226091:p.Gly300Asp						p.G300D	NM_001406	NP_001397	Q15768	EFNB3_HUMAN			5	1296	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	300			Cytoplasmic (Potential).		B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Missense_Mutation	SNP	ENST00000226091.2	37	c.899G>A	CCDS11120.1	.	.	.	.	.	.	.	.	.	.	G	6.815	0.519430	0.13005	.	.	ENSG00000108947	ENST00000226091	D	0.90004	-2.6	4.47	4.47	0.54385	.	0.350601	0.21187	N	0.078719	T	0.79805	0.4509	N	0.22421	0.69	0.09310	N	1	B	0.15930	0.015	B	0.04013	0.001	T	0.67562	-0.5639	10	0.42905	T	0.14	-2.9652	8.2935	0.31971	0.1057:0.0:0.8943:0.0	.	300	Q15768	EFNB3_HUMAN	D	300	ENSP00000226091:G300D	ENSP00000226091:G300D	G	+	2	0	EFNB3	7553495	0.989000	0.36119	0.084000	0.20598	0.733000	0.41908	-0.232000	0.09055	2.322000	0.78497	0.643000	0.83706	GGC		0.667	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406	
DNAH2	146754	broad.mit.edu	37	17	7626952	7626952	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:7626952G>A	ENST00000572933.1	+	3	1633	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	DNAH2_ENST00000082259.3_Missense_Mutation_p.R58Q|DNAH2_ENST00000389173.2_Missense_Mutation_p.R58Q|DNAH2_ENST00000570791.1_Missense_Mutation_p.R58Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	58	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTAGAGCCACGGTTGGAGGGA	0.512																																						uc002giu.1																			0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(172-174)CGG>CAG		dynein heavy chain domain 3							129.0	115.0	119.0					17																	7626952		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7626952G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.173G>A	17.37:g.7626952G>A	ENSP00000458355:p.Arg58Gln					DNAH2_uc002git.2_Missense_Mutation_p.R58Q|DNAH2_uc010vuk.1_Missense_Mutation_p.R58Q	p.R58Q	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			2	187	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	58			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.173G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	8.730	0.916425	0.17907	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.22743	1.94;2.23	3.97	-6.47	0.01902	.	1.200850	0.06261	N	0.693887	T	0.06826	0.0174	N	0.08118	0	0.09310	N	1	B;B	0.21071	0.003;0.051	B;B	0.19946	0.004;0.027	T	0.32640	-0.9899	10	0.14252	T	0.57	.	0.9302	0.01333	0.3941:0.114:0.2766:0.2152	.	58;58	Q9P225;Q9P225-3	DYH2_HUMAN;.	Q	58	ENSP00000373825:R58Q;ENSP00000082259:R58Q	ENSP00000082259:R58Q	R	+	2	0	DNAH2	7567677	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.631000	0.02026	-1.280000	0.02402	-0.410000	0.06199	CGG		0.512	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
ULK2	9706	broad.mit.edu	37	17	19705231	19705231	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:19705231C>T	ENST00000395544.4	-	16	1799	c.1300G>A	c.(1300-1302)Gca>Aca	p.A434T	ULK2_ENST00000580130.1_5'UTR|ULK2_ENST00000361658.2_Missense_Mutation_p.A434T	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	434					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CGTACCACTGCAGATCTGAAA	0.468																																						uc002gwm.3																			0				skin(2)|large_intestine(1)|stomach(1)	4						c.(1300-1302)GCA>ACA		unc-51-like kinase 2							130.0	135.0	133.0					17																	19705231		2203	4300	6503	SO:0001583	missense	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19705231C>T	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1300G>A	17.37:g.19705231C>T	ENSP00000378914:p.Ala434Thr					ULK2_uc002gwn.2_Missense_Mutation_p.A434T	p.A434T	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN			16	1809	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		434					A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	c.1300G>A	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998601	0.54147	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.67345	-0.26;-0.26	6.02	4.05	0.47172	.	0.154298	0.56097	N	0.000025	T	0.59756	0.2217	L	0.51422	1.61	0.40776	D	0.983132	B	0.02656	0.0	B	0.04013	0.001	T	0.56214	-0.8016	10	0.39692	T	0.17	-6.7212	12.5686	0.56323	0.0:0.8775:0.0:0.1225	.	434	Q8IYT8	ULK2_HUMAN	T	434	ENSP00000354877:A434T;ENSP00000378914:A434T	ENSP00000354877:A434T	A	-	1	0	ULK2	19645823	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.918000	0.48829	0.897000	0.36392	0.655000	0.94253	GCA		0.468	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683	
UNC45B	146862	broad.mit.edu	37	17	33482349	33482349	+	Missense_Mutation	SNP	G	G	A	rs529858933		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:33482349G>A	ENST00000268876.5	+	7	771	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	UNC45B_ENST00000591048.1_Missense_Mutation_p.R225Q|UNC45B_ENST00000433649.1_Missense_Mutation_p.R225Q|UNC45B_ENST00000394570.2_Missense_Mutation_p.R225Q|UNC45B_ENST00000378449.1_Missense_Mutation_p.R225Q	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	225					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.R225Q(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CGGATAGACCGAATCTGTAGC	0.562																																						uc002hja.2																			1	Substitution - Missense(1)		endometrium(1)	ovary(3)|central_nervous_system(2)|breast(1)	6						c.(673-675)CGA>CAA		cardiomyopathy associated 4 isoform 1							148.0	115.0	126.0					17																	33482349		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33482349G>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.674G>A	17.37:g.33482349G>A	ENSP00000268876:p.Arg225Gln					UNC45B_uc002hjb.2_Missense_Mutation_p.R225Q|UNC45B_uc002hjc.2_Missense_Mutation_p.R225Q|UNC45B_uc010cto.2_Missense_Mutation_p.R225Q	p.R225Q	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			7	771	+		Ovarian(249;0.17)	225			ARM 2.		Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.674G>A	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642300	0.47153	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.51574	0.7;3.56;0.7;0.79	6.04	4.07	0.47477	Armadillo-like helical (1);Armadillo-type fold (1);	0.173261	0.48286	N	0.000186	T	0.32823	0.0842	L	0.31926	0.97	0.31998	N	0.603709	P;B;B	0.37781	0.608;0.055;0.018	B;B;B	0.36134	0.218;0.02;0.009	T	0.36529	-0.9744	10	0.22109	T	0.4	-1.6495	9.0382	0.36300	0.2836:0.0:0.7164:0.0	.	225;225;225	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	Q	225	ENSP00000378071:R225Q;ENSP00000268876:R225Q;ENSP00000412840:R225Q;ENSP00000367710:R225Q	ENSP00000268876:R225Q	R	+	2	0	UNC45B	30506462	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	2.305000	0.43664	0.904000	0.36572	0.561000	0.74099	CGA		0.562	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167	
KRTAP4-7	100132476	broad.mit.edu	37	17	39240908	39240908	+	Silent	SNP	T	T	C			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:39240908T>C	ENST00000391417.4	+	1	450	c.450T>C	c.(448-450)tgT>tgC	p.C150C		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	205	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C150C(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CCTTGTGCTGTGCCTCCTCTT	0.607																																						uc010wfn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(448-450)TGT>TGC		keratin associated protein 4-7							90.0	87.0	88.0					17																	39240908		692	1591	2283	SO:0001819	synonymous_variant	100132476							g.chr17:39240908T>C	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.450T>C	17.37:g.39240908T>C							p.C150C	NM_033061	NP_149050					1	450	+								A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	37	c.450T>C	CCDS45673.1																																																																																				0.607	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1		
RNF43	54894	broad.mit.edu	37	17	56439918	56439918	+	Missense_Mutation	SNP	C	C	T	rs367688879		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:56439918C>T	ENST00000584437.1	-	5	2629	c.674G>A	c.(673-675)cGc>cAc	p.R225H	RNF43_ENST00000577625.1_Missense_Mutation_p.R98H|RNF43_ENST00000500597.2_Missense_Mutation_p.R184H|RNF43_ENST00000583753.1_Missense_Mutation_p.R184H|RNF43_ENST00000577716.1_Missense_Mutation_p.R225H|RNF43_ENST00000407977.2_Missense_Mutation_p.R225H|RNF43_ENST00000581868.1_Missense_Mutation_p.R98H|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	225				R -> H (in Ref. 2; BAH12429). {ECO:0000305}.	negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTGCTGTGGCGGGGGCGGCA	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		16237	0.001		0.0	False		,,,				2504	0.0					uc002iwf.2																			0				ovary(1)	1						c.(673-675)CGC>CAC		ring finger protein 43 precursor		C	HIS/ARG	1,4405		0,1,2202	53.0	56.0	55.0		674	-6.0	0.1	17		55	0,8600		0,0,4300	no	missense	RNF43	NM_017763.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	225/784	56439918	1,13005	2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56439918C>T		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.674G>A	17.37:g.56439918C>T	ENSP00000463069:p.Arg225His					RNF43_uc010wnv.1_Missense_Mutation_p.R184H|RNF43_uc002iwh.3_Missense_Mutation_p.R225H|RNF43_uc002iwg.3_Missense_Mutation_p.R225H|RNF43_uc010dcw.2_Missense_Mutation_p.R98H	p.R225H	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN			5	2630	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		225	R -> H (in Ref. 2; BAH12429).		Cytoplasmic (Potential).		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.674G>A	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962181	0.34659	2.27E-4	0.0	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.10477	2.98;2.87	5.43	-6.0	0.02206	.	1.074910	0.07006	N	0.824248	T	0.05823	0.0152	N	0.14661	0.345	0.19300	N	0.999979	B;B;B	0.15473	0.004;0.013;0.002	B;B;B	0.12156	0.003;0.007;0.0	T	0.42548	-0.9445	10	0.33940	T	0.23	-26.467	9.4348	0.38632	0.1086:0.2359:0.0:0.6555	.	184;225;225	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	H	225;184	ENSP00000385328:R225H;ENSP00000441969:R184H	ENSP00000385328:R225H	R	-	2	0	RNF43	53794917	0.001000	0.12720	0.051000	0.19133	0.773000	0.43773	-1.851000	0.01669	-1.294000	0.02360	-1.260000	0.01463	CGC		0.597	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763	
BPTF	2186	broad.mit.edu	37	17	65889572	65889572	+	Silent	SNP	T	T	C			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:65889572T>C	ENST00000321892.4	+	8	2581	c.2520T>C	c.(2518-2520)ttT>ttC	p.F840F	BPTF_ENST00000335221.5_Silent_p.F840F|BPTF_ENST00000424123.3_Silent_p.F701F|BPTF_ENST00000306378.6_Silent_p.F714F			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	840	Interaction with MAZ.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACAATTATTTTAAATTGGGTC	0.373																																						uc002jgf.2																			0				ovary(2)|skin(2)	4						c.(2140-2142)TTT>TTC		bromodomain PHD finger transcription factor							74.0	70.0	72.0					17																	65889572		2203	4300	6503	SO:0001819	synonymous_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65889572T>C	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2520T>C	17.37:g.65889572T>C						BPTF_uc002jge.2_Silent_p.F840F|BPTF_uc010wqm.1_Silent_p.F777F	p.F714F	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	2203	+	all_cancers(12;6e-11)		840			Interaction with MAZ.		Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.2142T>C																																																																																					0.373	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
DSC1	1823	broad.mit.edu	37	18	28736074	28736074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr18:28736074G>A	ENST00000257198.5	-	4	664	c.403C>T	c.(403-405)Cga>Tga	p.R135*	DSC1_ENST00000257197.3_Nonsense_Mutation_p.R135*|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	135	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GGAGCCCATCGTCTCTTGCTG	0.413																																						uc002kwn.2																			0				ovary(3)|skin(1)	4						c.(403-405)CGA>TGA		desmocollin 1 isoform Dsc1a preproprotein							140.0	118.0	126.0					18																	28736074		2203	4300	6503	SO:0001587	stop_gained	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28736074G>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.403C>T	18.37:g.28736074G>A	ENSP00000257198:p.Arg135*					DSC1_uc002kwm.2_Nonsense_Mutation_p.R135*	p.R135*	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		4	665	-			135			Cadherin 1.|Extracellular (Potential).		Q9HB01	Nonsense_Mutation	SNP	ENST00000257198.5	37	c.403C>T	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	G	39	7.381657	0.98248	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	.	.	.	5.66	3.45	0.39498	.	0.301125	0.22628	N	0.057613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	12.0525	0.53515	0.0:0.0:0.3061:0.6939	.	.	.	.	X	135	.	ENSP00000257197:R135X	R	-	1	2	DSC1	26990072	0.894000	0.30519	0.962000	0.40283	0.981000	0.71138	0.819000	0.27308	1.380000	0.46344	0.655000	0.94253	CGA		0.413	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421	
ALPK2	115701	broad.mit.edu	37	18	56171191	56171191	+	Missense_Mutation	SNP	A	A	C			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr18:56171191A>C	ENST00000361673.3	-	11	6432	c.6219T>G	c.(6217-6219)agT>agG	p.S2073R		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2073	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGAGGCAGCCACTTGTTTTCT	0.522																																						uc002lhj.3																			0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(6217-6219)AGT>AGG		heart alpha-kinase							194.0	176.0	182.0					18																	56171191		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56171191A>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.6219T>G	18.37:g.56171191A>C	ENSP00000354991:p.Ser2073Arg						p.S2073R	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			11	6433	-			2073			Alpha-type protein kinase.		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.6219T>G	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	14.33	2.503182	0.44558	.	.	ENSG00000198796	ENST00000361673	T	0.06294	3.32	5.63	-3.95	0.04118	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.273852	0.35555	N	0.003136	T	0.06735	0.0172	N	0.05078	-0.115	0.28311	N	0.922677	D	0.57899	0.981	D	0.64877	0.93	T	0.12016	-1.0564	10	0.39692	T	0.17	-4.32	12.7877	0.57516	0.5042:0.0:0.4958:0.0	.	2073	Q86TB3	ALPK2_HUMAN	R	2073	ENSP00000354991:S2073R	ENSP00000354991:S2073R	S	-	3	2	ALPK2	54322171	0.000000	0.05858	0.323000	0.25347	0.916000	0.54674	-1.394000	0.02518	-0.722000	0.04922	-0.262000	0.10625	AGT		0.522	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
SERPINB10	5273	broad.mit.edu	37	18	61585273	61585273	+	Silent	SNP	C	C	T	rs61761878	byFrequency	TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr18:61585273C>T	ENST00000238508.3	+	4	368	c.309C>T	c.(307-309)aaC>aaT	p.N103N		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	103					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TCAAGCCCAACGATGACTACT	0.353													C|||	8	0.00159744	0.0045	0.0029	5008	,	,		20428	0.0		0.0	False		,,,				2504	0.0					uc010xev.1																			0				lung(1)|kidney(1)|skin(1)	3						c.(307-309)AAC>AAT		serine (or cysteine) proteinase inhibitor, clade		C		14,4392	22.3+/-47.3	0,14,2189	96.0	89.0	91.0		309	2.7	0.0	18	dbSNP_129	91	0,8600		0,0,4300	no	coding-synonymous	SERPINB10	NM_005024.1		0,14,6489	TT,TC,CC		0.0,0.3177,0.1076		103/398	61585273	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	5273					cytoplasm|nucleus	serine-type endopeptidase inhibitor activity	g.chr18:61585273C>T	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.309C>T	18.37:g.61585273C>T						SERPINB10_uc010xew.1_Silent_p.N103N	p.N103N	NM_005024	NP_005015	P48595	SPB10_HUMAN			4	399	+		Esophageal squamous(42;0.131)	103					Q4VAX4|Q4VAX7	Silent	SNP	ENST00000238508.3	37	c.309C>T	CCDS11990.1																																																																																				0.353	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024	
C3	718	broad.mit.edu	37	19	6681977	6681977	+	Missense_Mutation	SNP	T	T	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr19:6681977T>G	ENST00000245907.6	-	35	4417	c.4325A>C	c.(4324-4326)aAc>aCc	p.N1442T	C3_ENST00000599668.1_5'Flank	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1442	Properdin-binding.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GATGAGGGTGTTCCTATCGGA	0.532																																						uc002mfm.2																			0				skin(3)|ovary(1)|pancreas(1)	5						c.(4324-4326)AAC>ACC		complement component 3 precursor							189.0	172.0	178.0					19																	6681977		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6681977T>G	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4325A>C	19.37:g.6681977T>G	ENSP00000245907:p.Asn1442Thr					C3_uc002mfl.2_Missense_Mutation_p.N178T	p.N1442T	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	35	4387	-			1442			Properdin-binding.		A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.4325A>C	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.962748	0.53507	.	.	ENSG00000125730	ENST00000245907	T	0.32023	1.47	5.71	5.71	0.89125	Alpha-macroglobulin, receptor-binding (3);	0.200083	0.52532	D	0.000070	T	0.43765	0.1262	M	0.89095	3.005	0.36628	D	0.876112	B	0.30584	0.286	B	0.39706	0.307	T	0.54344	-0.8308	10	0.33940	T	0.23	.	7.2166	0.25963	0.0:0.1596:0.0:0.8404	.	1442	P01024	CO3_HUMAN	T	1442	ENSP00000245907:N1442T	ENSP00000245907:N1442T	N	-	2	0	C3	6632977	1.000000	0.71417	0.995000	0.50966	0.430000	0.31655	1.631000	0.37092	2.176000	0.68965	0.478000	0.44815	AAC		0.532	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
LILRA2	11027	broad.mit.edu	37	19	55086977	55086977	+	Missense_Mutation	SNP	G	G	A	rs372106807		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr19:55086977G>A	ENST00000251377.3	+	6	1043	c.910G>A	c.(910-912)Gag>Aag	p.E304K	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.E304K|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.E304K|LILRA2_ENST00000391737.1_Missense_Mutation_p.E292K			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	304	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCTCTCCTCCGAGTGGTCGGC	0.677																																						uc002qgg.3																			0				ovary(1)	1						c.(910-912)GAG>AAG		leukocyte immunoglobulin-like receptor,		G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	43.0	48.0	46.0		910,910	-0.8	0.0	19		46	0,8598		0,0,4299	no	missense,missense	LILRA2	NM_001130917.1,NM_006866.2	56,56	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	304/484,304/467	55086977	1,13003	2203	4299	6502	SO:0001583	missense	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55086977G>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.910G>A	19.37:g.55086977G>A	ENSP00000251377:p.Glu304Lys					LILRA2_uc010ern.2_Missense_Mutation_p.E304K|LILRA2_uc002qgf.2_Missense_Mutation_p.E304K|LILRA2_uc010yfe.1_Missense_Mutation_p.E304K|LILRA2_uc010yff.1_Missense_Mutation_p.E292K|LILRA2_uc010ero.2_Missense_Mutation_p.E292K|LILRA2_uc010yfg.1_Intron	p.E304K	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	5	999	+			304			Ig-like C2-type 3.|Extracellular (Potential).		O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.910G>A	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	8.813	0.935617	0.18206	2.27E-4	0.0	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.12879	2.64;2.64;2.64;2.64;2.64	2.92	-0.822	0.10819	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.207800	0.01379	N	0.012874	T	0.16342	0.0393	L	0.60904	1.88	0.09310	N	1	B;B;B;B	0.24483	0.0;0.027;0.104;0.022	B;B;B;B	0.30572	0.061;0.045;0.117;0.016	T	0.27739	-1.0065	10	0.41790	T	0.15	.	3.3823	0.07259	0.2686:0.2168:0.5146:0.0	.	304;292;304;304	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	K	304;304;304;304;292	ENSP00000388131:E304K;ENSP00000251377:E304K;ENSP00000375618:E304K;ENSP00000251376:E304K;ENSP00000375617:E292K	ENSP00000251376:E304K	E	+	1	0	LILRA2	59778789	0.003000	0.15002	0.000000	0.03702	0.019000	0.09904	-0.100000	0.10990	-0.183000	0.10585	0.502000	0.49764	GAG		0.677	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2		
SLC4A5	57835	broad.mit.edu	37	2	74479508	74479508	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr2:74479508C>T	ENST00000377634.4	-	16	1675	c.1276G>A	c.(1276-1278)Gtg>Atg	p.V426M	SLC4A5_ENST00000377632.1_Missense_Mutation_p.V426M|SLC4A5_ENST00000423644.1_Missense_Mutation_p.V426M|SLC4A5_ENST00000394019.2_Missense_Mutation_p.V426M|SLC4A5_ENST00000346834.4_Missense_Mutation_p.V426M|SLC4A5_ENST00000357822.5_Missense_Mutation_p.V426M|SLC4A5_ENST00000359484.4_Missense_Mutation_p.V362M|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.V362M|SLC4A5_ENST00000483195.1_5'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGGAGAACACAGATTTCCTG	0.552																																						uc002sko.1																			0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						c.(1276-1278)GTG>ATG		sodium bicarbonate transporter 4 isoform a							43.0	41.0	41.0					2																	74479508		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74479508C>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1276G>A	2.37:g.74479508C>T	ENSP00000366861:p.Val426Met					SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.V426M|SLC4A5_uc010ffc.1_Missense_Mutation_p.V426M|SLC4A5_uc002skp.1_Missense_Mutation_p.V362M|SLC4A5_uc002sks.1_Missense_Mutation_p.V426M	p.V426M	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN			11	1278	-			426			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000377634.4	37	c.1276G>A	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387237	0.25031	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.29	4.41	0.53225	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.956275	0.08691	N	0.908007	T	0.67382	0.2887	N	0.17474	0.49	0.45648	D	0.998574	B;P;B;P;B	0.51791	0.018;0.948;0.018;0.864;0.196	B;B;B;B;B	0.41036	0.053;0.346;0.053;0.232;0.022	T	0.58645	-0.7600	10	0.39692	T	0.17	.	8.155	0.31162	0.0:0.8193:0.0:0.1807	.	426;426;362;426;426	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	M	426;426;426;362;426;362;426;426;426;426	ENSP00000377587:V426M;ENSP00000251768:V426M;ENSP00000352461:V362M;ENSP00000395804:V426M;ENSP00000351513:V362M;ENSP00000350475:V426M;ENSP00000366859:V426M;ENSP00000366861:V426M;ENSP00000405678:V426M	ENSP00000251768:V426M	V	-	1	0	SLC4A5	74333016	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	5.630000	0.67805	1.243000	0.43853	0.442000	0.29010	GTG		0.552	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3		
UGGT1	56886	broad.mit.edu	37	2	128935427	128935427	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr2:128935427G>A	ENST00000259253.6	+	33	3693	c.3646G>A	c.(3646-3648)Gtg>Atg	p.V1216M	UGGT1_ENST00000375990.3_Missense_Mutation_p.V1192M	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1216					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGCAGATATGGTGAACGAAGA	0.398																																						uc002tps.2																			0				ovary(1)	1						c.(3646-3648)GTG>ATG		UDP-glucose ceramide glucosyltransferase-like 1							307.0	277.0	287.0					2																	128935427		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128935427G>A	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.3646G>A	2.37:g.128935427G>A	ENSP00000259253:p.Val1216Met					UGGT1_uc002tpr.2_Missense_Mutation_p.V1192M	p.V1216M	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			33	3824	+			1216					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.3646G>A	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035201	0.35893	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.08008	3.14;3.14	5.82	3.74	0.42951	.	0.487974	0.23261	N	0.050126	T	0.01905	0.0060	N	0.00823	-1.155	0.29021	N	0.886308	B	0.06786	0.001	B	0.06405	0.002	T	0.37174	-0.9717	9	.	.	.	.	1.9084	0.03282	0.2574:0.0:0.4361:0.3065	.	1216	Q9NYU2	UGGG1_HUMAN	M	1192;1216	ENSP00000365158:V1192M;ENSP00000259253:V1216M	.	V	+	1	0	UGGT1	128651897	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.301000	0.51842	1.416000	0.47057	0.655000	0.94253	GTG		0.398	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	
SP110	3431	broad.mit.edu	37	2	231067312	231067312	+	Missense_Mutation	SNP	C	C	T	rs144163010		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr2:231067312C>T	ENST00000358662.4	-	9	1109	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	SP110_ENST00000486146.2_5'Flank|SP110_ENST00000392048.3_Missense_Mutation_p.R342Q|SP110_ENST00000258381.6_Missense_Mutation_p.R344Q|SP110_ENST00000540870.1_Missense_Mutation_p.R350Q|SP110_ENST00000338556.3_Intron|SP110_ENST00000258382.5_Missense_Mutation_p.R344Q	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	344					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCTCGACTTTCGGGCACATTC	0.478																																						uc002vqh.3																			0				ovary(2)|breast(2)	4						c.(1030-1032)CGA>CAA		SP110 nuclear body protein isoform a		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	157.0	128.0	138.0		1049,1031,1031,1031	-2.0	0.0	2	dbSNP_134	138	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	SP110	NM_001185015.1,NM_004509.3,NM_004510.3,NM_080424.2	43,43,43,43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign,benign	350/556,344/690,344/550,344/714	231067312	2,13004	2203	4300	6503	SO:0001583	missense	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231067312C>T	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1031G>A	2.37:g.231067312C>T	ENSP00000351488:p.Arg344Gln					SP110_uc002vqg.3_Missense_Mutation_p.R344Q|SP110_uc002vqi.3_Missense_Mutation_p.R344Q|SP110_uc010fxk.2_Missense_Mutation_p.R342Q|SP110_uc010fxj.2_Intron	p.R344Q	NM_004509	NP_004500	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	9	1271	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	344					B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	c.1031G>A	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	C	2.210	-0.380918	0.05000	2.27E-4	1.16E-4	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870	T;T;T;T;T	0.62941	1.33;1.13;-0.01;0.02;0.11	3.63	-1.99	0.07457	.	.	.	.	.	T	0.23210	0.0561	N	0.01874	-0.695	0.21220	N	0.999755	B;B;B;B	0.17667	0.005;0.005;0.014;0.023	B;B;B;B	0.06405	0.0;0.0;0.001;0.002	T	0.21042	-1.0257	9	0.07175	T	0.84	.	1.3848	0.02238	0.1768:0.1098:0.3638:0.3496	.	342;350;344;344	G5E9C0;F5H1M1;Q9HB58;Q9HB58-6	.;.;SP110_HUMAN;.	Q	344;344;342;344;350	ENSP00000258381:R344Q;ENSP00000351488:R344Q;ENSP00000375902:R342Q;ENSP00000258382:R344Q;ENSP00000439558:R350Q	ENSP00000258381:R344Q	R	-	2	0	SP110	230775556	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-1.325000	0.02687	-0.337000	0.08426	-1.339000	0.01253	CGA		0.478	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424	
KIF1A	547	broad.mit.edu	37	2	241657468	241657468	+	Splice_Site	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr2:241657468G>A	ENST00000320389.7	-	46	5187	c.5029C>T	c.(5029-5031)Cgg>Tgg	p.R1677W	KIF1A_ENST00000498729.2_Splice_Site_p.R1778W	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1677					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGGCCCTACCGTATGGTCCCG	0.662																																						uc002vzy.2																			0				lung(1)	1						c.(5029-5031)CGG>TGG		axonal transport of synaptic vesicles							21.0	26.0	24.0					2																	241657468		2065	4195	6260	SO:0001630	splice_region_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241657468G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.5030+1C>T	2.37:g.241657468G>A						KIF1A_uc010fzk.2_Missense_Mutation_p.R1778W|KIF1A_uc002vzw.2_Missense_Mutation_p.R338W|KIF1A_uc002vzx.2_Missense_Mutation_p.R404W	p.R1677W	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	46	5175	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1677					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.5029C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188834	0.57909	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.76709	-0.94;-1.04	4.3	3.31	0.37934	.	0.053640	0.64402	U	0.000001	D	0.85613	0.5737	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.963;0.995	D	0.86827	0.2008	10	0.87932	D	0	.	10.7989	0.46476	0.0:0.0:0.7071:0.2929	.	1778;1677	F5H045;Q12756	.;KIF1A_HUMAN	W	1677;1778;1786	ENSP00000322791:R1677W;ENSP00000438388:R1778W	ENSP00000322791:R1677W	R	-	1	2	KIF1A	241306141	1.000000	0.71417	0.900000	0.35374	0.495000	0.33615	2.861000	0.48380	1.949000	0.56562	0.563000	0.77884	CGG		0.662	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483	Missense_Mutation
NTSR1	4923	broad.mit.edu	37	20	61386135	61386135	+	Silent	SNP	C	C	T	rs377415240		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr20:61386135C>T	ENST00000370501.3	+	2	1184	c.813C>T	c.(811-813)gcC>gcT	p.A271A		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	271					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCCAGGCGGCCGAGCAGGGCC	0.632																																					GBM(37;400 780 6403 19663 35669)	uc002ydf.2																			0				skin(2)|lung(1)|central_nervous_system(1)	4						c.(811-813)GCC>GCT		neurotensin receptor 1				1,4405	2.1+/-5.4	0,1,2202	112.0	90.0	98.0		813	-0.5	0.8	20		98	0,8600		0,0,4300	no	coding-synonymous	NTSR1	NM_002531.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		271/419	61386135	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61386135C>T		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.813C>T	20.37:g.61386135C>T							p.A271A	NM_002531	NP_002522	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		2	1184	+	Breast(26;3.65e-08)		271			Cytoplasmic (Potential).		Q9H4H1|Q9H4T5	Silent	SNP	ENST00000370501.3	37	c.813C>T	CCDS13502.1																																																																																				0.632	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1		
WDR48	57599	broad.mit.edu	37	3	39126186	39126186	+	Silent	SNP	T	T	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr3:39126186T>G	ENST00000302313.5	+	13	1360	c.1332T>G	c.(1330-1332)tcT>tcG	p.S444S	WDR48_ENST00000396258.3_Silent_p.S362S|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000544962.1_Silent_p.S169S	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	444					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCTGGGTTTCTGCAAAAGATG	0.363																																						uc003cit.2																			0				ovary(1)|breast(1)	2						c.(1330-1332)TCT>TCG		WD repeat domain 48							98.0	96.0	97.0					3																	39126186		2203	4300	6503	SO:0001819	synonymous_variant	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39126186T>G	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.1332T>G	3.37:g.39126186T>G						WDR48_uc011ayt.1_Silent_p.S435S|WDR48_uc011ayu.1_Silent_p.S362S|WDR48_uc011ayv.1_Silent_p.S169S|WDR48_uc003ciu.2_RNA	p.S444S	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	13	1342	+			444					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Silent	SNP	ENST00000302313.5	37	c.1332T>G	CCDS33738.1																																																																																				0.363	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839	
FBXL5	26234	broad.mit.edu	37	4	15626935	15626935	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr4:15626935C>A	ENST00000341285.3	-	9	1914	c.1790G>T	c.(1789-1791)gGa>gTa	p.G597V	FBXL5_ENST00000382358.4_Missense_Mutation_p.G471V|FBXL5_ENST00000412094.2_Missense_Mutation_p.G580V	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	597					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AAGTACACGTCCAGTCTCTTG	0.393																																						uc003goc.1																			0					0						c.(1789-1791)GGA>GTA		F-box and leucine-rich repeat protein 5 isoform							93.0	84.0	87.0					4																	15626935		2203	4300	6503	SO:0001583	missense	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15626935C>A	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1790G>T	4.37:g.15626935C>A	ENSP00000344866:p.Gly597Val					FBXL5_uc010idw.1_Missense_Mutation_p.G510V|FBXL5_uc003gob.1_Missense_Mutation_p.G471V|FBXL5_uc010idx.1_Missense_Mutation_p.G596V|FBXL5_uc003god.1_Missense_Mutation_p.G580V|FBXL5_uc010idy.1_Missense_Mutation_p.G597V	p.G597V	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN			9	1893	-			597			LRR 5.		A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	c.1790G>T	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.04|13.04	2.119705|2.119705	0.37436|0.37436	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358|ENST00000513163	T;T;T|.	0.16196|.	2.36;2.36;2.36|.	5.72|5.72	4.86|4.86	0.63082|0.63082	.|.	0.444231|.	0.24557|.	N|.	0.037518|.	T|T	0.51483|0.51483	0.1677|0.1677	N|N	0.24115|0.24115	0.695|0.695	0.51233|0.51233	D|D	0.999911|0.999911	P;P|.	0.41978|.	0.767;0.657|.	B;B|.	0.44044|.	0.439;0.255|.	T|T	0.46871|0.46871	-0.9160|-0.9160	10|5	0.56958|.	D|.	0.05|.	-13.6551|-13.6551	15.051|15.051	0.71867|0.71867	0.0:0.564:0.436:0.0|0.0:0.564:0.436:0.0	.|.	580;597|.	Q9UKA1-2;Q9UKA1|.	.;FBXL5_HUMAN|.	V|C	597;580;471|517	ENSP00000344866:G597V;ENSP00000408679:G580V;ENSP00000371795:G471V|.	ENSP00000344866:G597V|.	G|W	-|-	2|3	0|0	FBXL5|FBXL5	15236033|15236033	0.914000|0.914000	0.31030|0.31030	0.645000|0.645000	0.29479|0.29479	0.983000|0.983000	0.72400|0.72400	1.566000|1.566000	0.36396|0.36396	1.379000|1.379000	0.46325|0.46325	0.563000|0.563000	0.77884|0.77884	GGA|TGG		0.393	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2		
NIPAL1	152519	broad.mit.edu	37	4	48037778	48037778	+	Silent	SNP	G	G	A	rs200487407		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr4:48037778G>A	ENST00000295461.5	+	6	888	c.822G>A	c.(820-822)ccG>ccA	p.P274P		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	274						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ACAAACATCCGCTGGTCTTTG	0.428																																						uc003gxw.2																			0					0						c.(820-822)CCG>CCA		NIPA-like domain containing 1							100.0	90.0	94.0					4																	48037778		2203	4300	6503	SO:0001819	synonymous_variant	152519					integral to membrane		g.chr4:48037778G>A	BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.822G>A	4.37:g.48037778G>A							p.P274P	NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN			6	888	+			274			Helical; (Potential).		B3KTB0|Q68DA9	Silent	SNP	ENST00000295461.5	37	c.822G>A	CCDS3479.1																																																																																				0.428	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250491.4	NM_207330	
BMP3	651	broad.mit.edu	37	4	81967723	81967723	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr4:81967723G>T	ENST00000282701.2	+	2	1468	c.1148G>T	c.(1147-1149)gGc>gTc	p.G383V		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	383					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GCAGATATTGGCTGGAGTGAA	0.478																																						uc003hmg.3																			0				ovary(4)|central_nervous_system(1)	5						c.(1147-1149)GGC>GTC		bone morphogenetic protein 3 preproprotein							145.0	144.0	145.0					4																	81967723		2203	4300	6503	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967723G>T	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.1148G>T	4.37:g.81967723G>T	ENSP00000282701:p.Gly383Val						p.G383V	NM_001201	NP_001192	P12645	BMP3_HUMAN			2	1468	+			383					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.1148G>T	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511801	0.64522	.	.	ENSG00000152785	ENST00000282701	D	0.90504	-2.68	5.16	4.3	0.51218	Transforming growth factor-beta, C-terminal (3);	0.045054	0.85682	N	0.000000	D	0.97225	0.9093	H	0.98370	4.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98523	1.0624	10	0.87932	D	0	.	14.8541	0.70323	0.0:0.0:0.8547:0.1453	.	383	P12645	BMP3_HUMAN	V	383	ENSP00000282701:G383V	ENSP00000282701:G383V	G	+	2	0	BMP3	82186747	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	9.775000	0.98995	1.265000	0.44215	0.655000	0.94253	GGC		0.478	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1		
NDST4	64579	broad.mit.edu	37	4	115998108	115998108	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr4:115998108A>G	ENST00000264363.2	-	2	763	c.85T>C	c.(85-87)Tct>Cct	p.S29P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	29					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAATAGGCAGAAATGACAATG	0.358																																						uc003ibu.2																			0				skin(3)|ovary(1)	4						c.(85-87)TCT>CCT		heparan sulfate N-deacetylase/N-sulfotransferase							43.0	47.0	45.0					4																	115998108		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115998108A>G	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.85T>C	4.37:g.115998108A>G	ENSP00000264363:p.Ser29Pro					NDST4_uc010imw.2_Intron	p.S29P	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	764	-		Ovarian(17;0.156)	29			Helical; Signal-anchor for type II membrane protein; (Potential).		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.85T>C	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	A	19.92	3.916214	0.73098	.	.	ENSG00000138653	ENST00000264363	T	0.38887	1.11	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	M	0.74546	2.27	0.58432	D	0.999998	D	0.69078	0.997	D	0.71656	0.974	T	0.66866	-0.5815	10	0.52906	T	0.07	.	14.9197	0.70829	1.0:0.0:0.0:0.0	.	29	Q9H3R1	NDST4_HUMAN	P	29	ENSP00000264363:S29P	ENSP00000264363:S29P	S	-	1	0	NDST4	116217557	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.369000	0.90118	1.925000	0.55765	0.338000	0.21704	TCT		0.358	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569	
RAI14	26064	broad.mit.edu	37	5	34811182	34811182	+	Frame_Shift_Del	DEL	G	G	-			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:34811182delG	ENST00000265109.3	+	8	803	c.516delG	c.(514-516)ctgfs	p.L172fs	RAI14_ENST00000503673.1_Frame_Shift_Del_p.L172fs|RAI14_ENST00000512629.1_Frame_Shift_Del_p.L172fs|RAI14_ENST00000506376.1_Frame_Shift_Del_p.L164fs|RAI14_ENST00000397449.1_Frame_Shift_Del_p.L165fs|RAI14_ENST00000515799.1_Frame_Shift_Del_p.L175fs|RAI14_ENST00000428746.2_Frame_Shift_Del_p.L172fs	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	172						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					ACTTTCTCCTGGATCATGGAG	0.418																																						uc003jir.2																			0				ovary(1)	1						c.(514-516)CTGfs		retinoic acid induced 14 isoform a							237.0	227.0	230.0					5																	34811182		2203	4300	6503	SO:0001589	frameshift_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34811182delG	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.516delG	5.37:g.34811182delG	ENSP00000265109:p.Leu172fs					RAI14_uc010iur.2_Frame_Shift_Del_p.L172fs|RAI14_uc011coj.1_Frame_Shift_Del_p.L172fs|RAI14_uc010ius.1_Frame_Shift_Del_p.L101fs|RAI14_uc003jis.2_Frame_Shift_Del_p.L175fs|RAI14_uc003jit.2_Frame_Shift_Del_p.L172fs|RAI14_uc011cok.1_Frame_Shift_Del_p.L164fs	p.L172fs	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN			8	712	+	all_lung(31;0.000191)		172			ANK 5.		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Frame_Shift_Del	DEL	ENST00000265109.3	37	c.516delG	CCDS34142.1																																																																																				0.418	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	
UGT3A2	167127	broad.mit.edu	37	5	36035914	36035914	+	Silent	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:36035914G>A	ENST00000282507.3	-	7	1559	c.1458C>T	c.(1456-1458)ctC>ctT	p.L486L	UGT3A2_ENST00000545528.1_Silent_p.L184L|UGT3A2_ENST00000513300.1_Silent_p.L452L	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	486				L -> F (in Ref. 1; AAQ88782). {ECO:0000305}.	cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAAACGTCGAGCAGGTACT	0.612																																						uc003jjz.1																			0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(1456-1458)CTC>CTT		UDP glycosyltransferase 3 family, polypeptide A2							62.0	55.0	57.0					5																	36035914		2203	4300	6503	SO:0001819	synonymous_variant	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36035914G>A		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1458C>T	5.37:g.36035914G>A						UGT3A2_uc011cos.1_Silent_p.L452L|UGT3A2_uc011cot.1_Silent_p.L184L	p.L486L	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1551	-	all_lung(31;0.000179)		486	L -> F (in Ref. 1; AAQ88782).		Helical; (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Silent	SNP	ENST00000282507.3	37	c.1458C>T	CCDS3914.1																																																																																				0.612	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914	
SLCO6A1	133482	broad.mit.edu	37	5	101816115	101816115	+	Missense_Mutation	SNP	C	C	T	rs111320089	byFrequency	TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:101816115C>T	ENST00000506729.1	-	2	553	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.V128I|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.V128I|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.V128I|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.V128I			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCAATGCTGACATCTATAAGA	0.328													C|||	12	0.00239617	0.0091	0.0	5008	,	,		17491	0.0		0.0	False		,,,				2504	0.0					uc003knn.2																			0				ovary(3)|skin(3)|central_nervous_system(1)	7						c.(382-384)GTC>ATC		solute carrier organic anion transporter family,		C	ILE/VAL	34,4370	36.0+/-67.5	0,34,2168	95.0	95.0	95.0		382	-4.6	0.0	5	dbSNP_132	95	1,8597	1.2+/-3.3	0,1,4298	yes	missense	SLCO6A1	NM_173488.3	29	0,35,6466	TT,TC,CC		0.0116,0.772,0.2692	benign	128/720	101816115	35,12967	2202	4299	6501	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101816115C>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.382G>A	5.37:g.101816115C>T	ENSP00000421339:p.Val128Ile					SLCO6A1_uc003kno.2_Missense_Mutation_p.V128I|SLCO6A1_uc003knp.2_Missense_Mutation_p.V128I|SLCO6A1_uc003knq.2_Missense_Mutation_p.V128I	p.V128I	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	2	554	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	128			Extracellular (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.382G>A	CCDS34206.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	4.005	-0.001733	0.07819	0.00772	1.16E-4	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	4.56	-4.64	0.03349	Major facilitator superfamily domain, general substrate transporter (1);	1.200210	0.06227	N	0.688011	T	0.21921	0.0528	L	0.35542	1.07	0.09310	N	1	P;B;P	0.40909	0.728;0.261;0.732	B;B;P	0.46510	0.39;0.113;0.519	T	0.17592	-1.0364	10	0.02654	T	1	.	5.3367	0.15961	0.0848:0.5232:0.1667:0.2253	.	128;128;128	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	I	128	ENSP00000421339:V128I;ENSP00000369135:V128I;ENSP00000373671:V128I;ENSP00000421990:V128I;ENSP00000369138:V128I	ENSP00000369135:V128I	V	-	1	0	SLCO6A1	101844014	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.068000	0.01382	-0.687000	0.05162	-0.211000	0.12701	GTC		0.328	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
PCDHB5	26167	broad.mit.edu	37	5	140516912	140516912	+	Silent	SNP	C	C	T	rs551194665		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:140516912C>T	ENST00000231134.5	+	1	2113	c.1896C>T	c.(1894-1896)cgC>cgT	p.R632R		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	632	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCGGCCA	0.692																																						uc003liq.2																			0				skin(3)|ovary(2)	5						c.(1894-1896)CGC>CGT		protocadherin beta 5 precursor							31.0	34.0	33.0					5																	140516912		1994	3940	5934	SO:0001819	synonymous_variant	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516912C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1896C>T	5.37:g.140516912C>T							p.R632R	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2113	+			632			Cadherin 6.|Extracellular (Potential).		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1896C>T	CCDS4247.1																																																																																				0.692	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669	
ABLIM3	22885	broad.mit.edu	37	5	148586637	148586637	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:148586637A>G	ENST00000506113.1	+	5	997	c.515A>G	c.(514-516)cAc>cGc	p.H172R	ABLIM3_ENST00000309868.7_Missense_Mutation_p.H172R|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.H172R|ABLIM3_ENST00000356541.3_Missense_Mutation_p.H172R|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.H172R|ABLIM3_ENST00000326685.7_Missense_Mutation_p.H172R			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	172	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCAGTGGCACGTCAGCTGC	0.612																																						uc003lpy.2																			0				ovary(2)|skin(1)	3						c.(514-516)CAC>CGC		actin binding LIM protein family, member 3							101.0	86.0	91.0					5																	148586637		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148586637A>G	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.515A>G	5.37:g.148586637A>G	ENSP00000425394:p.His172Arg					ABLIM3_uc003lpz.1_Missense_Mutation_p.H172R|ABLIM3_uc003lqa.1_Missense_Mutation_p.H180R|ABLIM3_uc003lqb.2_Missense_Mutation_p.H172R|ABLIM3_uc003lqc.1_Missense_Mutation_p.H172R|ABLIM3_uc003lqd.1_Missense_Mutation_p.H172R|ABLIM3_uc003lqf.2_Missense_Mutation_p.H172R|ABLIM3_uc003lqe.1_Missense_Mutation_p.H172R	p.H172R	NM_014945	NP_055760	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	766	+			172			LIM zinc-binding 3.		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.515A>G	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.588928	0.86851	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	D;D;D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98;-3.98;-3.98	5.33	5.33	0.75918	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.98979	0.9652	H	0.98701	4.305	0.80722	D	1	D;D;D	0.89917	0.987;0.994;1.0	D;D;D	0.91635	0.976;0.983;0.999	D	0.99215	1.0877	10	0.87932	D	0	.	15.2787	0.73764	1.0:0.0:0.0:0.0	.	172;172;172	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	R	172	ENSP00000315841:H172R;ENSP00000348938:H172R;ENSP00000310309:H172R;ENSP00000425394:H172R;ENSP00000421183:H172R;ENSP00000420855:H172R	ENSP00000310309:H172R	H	+	2	0	ABLIM3	148566830	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.207000	0.95064	2.014000	0.59158	0.397000	0.26171	CAC		0.612	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945	
GABRA1	2554	broad.mit.edu	37	5	161300296	161300296	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:161300296C>A	ENST00000428797.2	+	6	784	c.429C>A	c.(427-429)aaC>aaA	p.N143K	GABRA1_ENST00000393943.4_Missense_Mutation_p.N143K|GABRA1_ENST00000023897.6_Missense_Mutation_p.N143K|GABRA1_ENST00000420560.1_Missense_Mutation_p.N143K|GABRA1_ENST00000437025.2_Missense_Mutation_p.N143K|GABRA1_ENST00000444819.1_Missense_Mutation_p.N143K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	143					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCATGCCCAACAAACTCCTGC	0.473																																						uc010jiw.2																			0				ovary(2)|pancreas(1)	3						c.(427-429)AAC>AAA		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						84.0	72.0	76.0					5																	161300296		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161300296C>A		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.429C>A	5.37:g.161300296C>A	ENSP00000393097:p.Asn143Lys					GABRA1_uc010jix.2_Missense_Mutation_p.N143K|GABRA1_uc010jiy.2_Missense_Mutation_p.N143K|GABRA1_uc003lyx.3_Missense_Mutation_p.N143K|GABRA1_uc010jiz.2_Missense_Mutation_p.N143K|GABRA1_uc010jja.2_Missense_Mutation_p.N143K|GABRA1_uc010jjb.2_Missense_Mutation_p.N143K	p.N143K	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	6	897	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	143			Extracellular (Probable).		D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.429C>A	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809358	0.70797	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.85	1.07	0.20283	Neurotransmitter-gated ion-channel ligand-binding (3);	0.045450	0.85682	D	0.000000	D	0.84911	0.5577	H	0.95187	3.635	0.58432	D	0.999999	B	0.27229	0.172	B	0.31614	0.133	T	0.82121	-0.0614	10	0.87932	D	0	.	10.0361	0.42129	0.0:0.5643:0.0:0.4357	.	143	P14867	GBRA1_HUMAN	K	143	ENSP00000023897:N143K;ENSP00000393097:N143K;ENSP00000377517:N143K;ENSP00000415441:N143K;ENSP00000408041:N143K;ENSP00000414232:N143K	ENSP00000023897:N143K	N	+	3	2	GABRA1	161232874	0.982000	0.34865	0.997000	0.53966	0.984000	0.73092	0.280000	0.18790	0.108000	0.17862	-0.224000	0.12420	AAC		0.473	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5	
RARS	5917	broad.mit.edu	37	5	167919770	167919770	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:167919770A>G	ENST00000231572.3	+	3	341	c.287A>G	c.(286-288)gAa>gGa	p.E96G	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	96					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		CCAGATTTGGAAAATCCTCCT	0.418																																						uc003lzx.2																			0				ovary(2)|skin(1)	3						c.(286-288)GAA>GGA		arginyl-tRNA synthetase							139.0	141.0	140.0					5																	167919770		2203	4300	6503	SO:0001583	missense	5917				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr5:167919770A>G	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.287A>G	5.37:g.167919770A>G	ENSP00000231572:p.Glu96Gly					RARS_uc011deo.1_5'UTR	p.E96G	NM_002887	NP_002878	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	3	328	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	96					B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	ENST00000231572.3	37	c.287A>G	CCDS4367.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.182155	0.57800	.	.	ENSG00000113643	ENST00000231572	T	0.73258	-0.73	5.66	4.49	0.54785	Arginyl tRNA synthetase, class Ia, N-terminal (3);	0.163229	0.52532	D	0.000069	T	0.60996	0.2312	L	0.42008	1.315	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.56926	-0.7898	10	0.27785	T	0.31	-11.6883	11.7787	0.52001	0.9304:0.0:0.0696:0.0	.	96	P54136	SYRC_HUMAN	G	96	ENSP00000231572:E96G	ENSP00000231572:E96G	E	+	2	0	RARS	167852348	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.703000	0.68340	2.163000	0.67991	0.460000	0.39030	GAA		0.418	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887	
HIST1H2BE	8344	broad.mit.edu	37	6	26184206	26184207	+	In_Frame_Ins	INS	-	-	ATC	rs538164578|rs185241633		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr6:26184206_26184207insATC	ENST00000356530.3	+	1	249_250	c.183_184insATC	c.(184-186)atc>ATCatc	p.62_62I>II		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	62					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						AAGCCATGGGGATCATGAATTC	0.574																																						uc003ngt.2																			0					0						c.(181-186)insATC		histone cluster 1, H2be																																				SO:0001652	inframe_insertion	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184206_26184207insATC	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"""Histones / Replication-dependent"""	4753	protein-coding gene	gene with protein product		602805	"""H2B histone family, member H"", ""histone 1, H2be"""	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.184_186dupATC	6.37:g.26184207_26184209dupATC	ENSP00000348924:p.Ile62dup						p.62_63insI	NM_003523	NP_003514	P62807	H2B1C_HUMAN			1	183_184	+			62_63					P02278|Q3B872|Q4VB69|Q93078|Q93080	In_Frame_Ins	INS	ENST00000356530.3	37	c.183_184insATC	CCDS4588.1																																																																																				0.574	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523	
SLC35D3	340146	broad.mit.edu	37	6	137245675	137245675	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr6:137245675G>T	ENST00000331858.4	+	2	1257	c.1092G>T	c.(1090-1092)agG>agT	p.R364S		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	364					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		AAGAGGTCAGGGGCAGCCCCC	0.637																																						uc003qhe.2																			0				ovary(1)|central_nervous_system(1)	2						c.(1090-1092)AGG>AGT		solute carrier family 35, member D3							49.0	54.0	52.0					6																	137245675		2203	4300	6503	SO:0001583	missense	340146				carbohydrate transport	integral to membrane		g.chr6:137245675G>T		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.1092G>T	6.37:g.137245675G>T	ENSP00000333591:p.Arg364Ser						p.R364S	NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	2	1257	+	Colorectal(23;0.24)		364					B4DI58|Q5QNZ6|Q6NX71	Missense_Mutation	SNP	ENST00000331858.4	37	c.1092G>T	CCDS34544.1	.	.	.	.	.	.	.	.	.	.	G	4.166	0.029296	0.08054	.	.	ENSG00000182747	ENST00000331858	T	0.54675	0.56	6.06	0.37	0.16160	.	0.576665	0.17921	N	0.157497	T	0.10637	0.0260	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.21381	-1.0247	10	0.33940	T	0.23	-18.7996	2.3819	0.04357	0.3013:0.123:0.4506:0.1251	.	364	Q5M8T2	S35D3_HUMAN	S	364	ENSP00000333591:R364S	ENSP00000333591:R364S	R	+	3	2	SLC35D3	137287368	0.008000	0.16893	0.016000	0.15963	0.047000	0.14425	0.172000	0.16704	0.119000	0.18210	0.655000	0.94253	AGG		0.637	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017	
SYNE1	23345	broad.mit.edu	37	6	152751311	152751311	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr6:152751311A>T	ENST00000367255.5	-	36	5325	c.4724T>A	c.(4723-4725)cTt>cAt	p.L1575H	SYNE1_ENST00000423061.1_Missense_Mutation_p.L1582H|SYNE1_ENST00000367253.4_Missense_Mutation_p.L1575H|SYNE1_ENST00000341594.5_Missense_Mutation_p.L1645H|SYNE1_ENST00000265368.4_Missense_Mutation_p.L1575H|SYNE1_ENST00000448038.1_Missense_Mutation_p.L1582H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1575					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGAACAGCAAGTTTATCTTC	0.303										HNSCC(10;0.0054)																												uc010kiw.2																			0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(4723-4725)CTT>CAT		spectrin repeat containing, nuclear envelope 1							57.0	53.0	54.0					6																	152751311		2201	4291	6492	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152751311A>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4724T>A	6.37:g.152751311A>T	ENSP00000356224:p.Leu1575His	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.L1582H|SYNE1_uc003qou.3_Missense_Mutation_p.L1575H|SYNE1_uc010kjb.1_Missense_Mutation_p.L1558H|SYNE1_uc003qow.2_Missense_Mutation_p.L870H	p.L1575H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	36	5326	-		Ovarian(120;0.0955)	1575			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4724T>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457145	0.63401	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	5.97	5.97	0.96955	.	0.000000	0.49305	D	0.000154	T	0.73606	0.3608	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.982;0.999;0.982;0.992	T	0.77284	-0.2645	10	0.87932	D	0	.	16.4461	0.83932	1.0:0.0:0.0:0.0	.	1558;1575;1575;1575;1582	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	H	1575;1582;1575;1582;1645;1575	ENSP00000356224:L1575H;ENSP00000396024:L1582H;ENSP00000265368:L1575H;ENSP00000390975:L1582H;ENSP00000341887:L1645H;ENSP00000356222:L1575H	ENSP00000265368:L1575H	L	-	2	0	SYNE1	152793004	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.338000	0.79269	2.285000	0.76669	0.528000	0.53228	CTT		0.303	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
C7orf26	79034	broad.mit.edu	37	7	6630085	6630085	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:6630085G>C	ENST00000344417.5	+	1	438	c.171G>C	c.(169-171)aaG>aaC	p.K57N	AC079742.4_ENST00000434951.1_RNA|C7orf26_ENST00000359073.5_Missense_Mutation_p.K57N	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	57										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		AGGTGCCCAAGGAGCGCAGCG	0.701																																						uc003sqo.1																			0				ovary(1)	1						c.(169-171)AAG>AAC		hypothetical protein LOC79034							15.0	15.0	15.0					7																	6630085		2197	4294	6491	SO:0001583	missense	79034							g.chr7:6630085G>C	BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.171G>C	7.37:g.6630085G>C	ENSP00000340220:p.Lys57Asn					uc011jwy.1_5'Flank|C7orf26_uc003sqp.1_Missense_Mutation_p.K57N|C7orf26_uc003sqq.1_5'UTR	p.K57N	NM_024067	NP_076972	Q96N11	CG026_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)	1	171	+		Ovarian(82;0.232)	57					Q9BQ43	Missense_Mutation	SNP	ENST00000344417.5	37	c.171G>C	CCDS5353.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759787	0.69763	.	.	ENSG00000146576	ENST00000344417;ENST00000359073	T;T	0.45668	0.89;0.89	4.72	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.51329	0.1668	M	0.66939	2.045	0.51012	D	0.999909	D;D	0.61697	0.965;0.99	P;P	0.58721	0.767;0.844	T	0.51028	-0.8757	10	0.46703	T	0.11	-23.583	6.5709	0.22539	0.199:0.0:0.801:0.0	.	57;57	Q96N11-2;Q96N11	.;CG026_HUMAN	N	57	ENSP00000340220:K57N;ENSP00000351974:K57N	ENSP00000340220:K57N	K	+	3	2	C7orf26	6596610	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.199000	0.42715	2.354000	0.79902	0.637000	0.83480	AAG		0.701	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246844.2	NM_024067	
DNAH11	8701	broad.mit.edu	37	7	21603893	21603893	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:21603893C>T	ENST00000409508.3	+	6	1103	c.1072C>T	c.(1072-1074)Cgc>Tgc	p.R358C	DNAH11_ENST00000328843.6_Missense_Mutation_p.R358C	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	358	Stem. {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						CCCACAGACACGCATATTAAT	0.443									Kartagener syndrome																													uc003svc.2																			0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(1072-1074)CGC>TGC		dynein, axonemal, heavy chain 11							121.0	114.0	116.0					7																	21603893		1844	4083	5927	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.chr7:21603893C>T	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.1072C>T	7.37:g.21603893C>T	ENSP00000475939:p.Arg358Cys						p.R358C	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			6	1103	+			358			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.1072C>T		.	.	.	.	.	.	.	.	.	.	C	8.286	0.816594	0.16607	.	.	ENSG00000105877	ENST00000328843	T	0.57595	0.39	5.62	-4.41	0.03590	Dynein heavy chain, domain-1 (1);	1.500280	0.03935	N	0.285922	T	0.39733	0.1089	L	0.47716	1.5	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.24119	-1.0169	10	0.56958	D	0.05	.	1.168	0.01820	0.2967:0.2078:0.3086:0.1869	.	358	Q96DT5	DYH11_HUMAN	C	358	ENSP00000330671:R358C	ENSP00000330671:R358C	R	+	1	0	DNAH11	21570418	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.491000	0.06474	-0.849000	0.04158	0.563000	0.77884	CGC		0.443	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
EGFR	1956	broad.mit.edu	37	7	55220274	55220274	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:55220274C>T	ENST00000275493.2	+	6	841	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	EGFR_ENST00000455089.1_Missense_Mutation_p.R177C|EGFR_ENST00000420316.2_Missense_Mutation_p.R222C|EGFR_ENST00000342916.3_Missense_Mutation_p.R222C|EGFR_ENST00000454757.2_Missense_Mutation_p.R169C|EGFR_ENST00000344576.2_Missense_Mutation_p.R222C|EGFR_ENST00000442591.1_Missense_Mutation_p.R222C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	222			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R222C(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGCTCCGGGCGCTGCCGTGG	0.597		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		4	Substitution - Missense(4)	p.V30_R297>G(5)|p.R222C(2)	large_intestine(2)|central_nervous_system(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(664-666)CGC>TGC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						91.0	104.0	100.0					7																	55220274		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55220274C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.664C>T	7.37:g.55220274C>T	ENSP00000275493:p.Arg222Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.R222C|EGFR_uc003tqi.2_Missense_Mutation_p.R222C|EGFR_uc003tqj.2_Missense_Mutation_p.R222C|EGFR_uc010kzg.1_Missense_Mutation_p.R177C|EGFR_uc011kco.1_Missense_Mutation_p.R169C|EGFR_uc003tql.1_RNA	p.R222C	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	910	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		222			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.664C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168333	0.78339	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.3	5.3	0.74995	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.84215	0.5423	M	0.92604	3.325	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.88214	0.2892	10	0.87932	D	0	.	17.5084	0.87753	0.0:1.0:0.0:0.0	.	177;222;222;222;222	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	177;222;92;222;222;222;222;169;16	ENSP00000415559:R177C;ENSP00000342376:R222C;ENSP00000345973:R222C;ENSP00000413843:R222C;ENSP00000275493:R222C;ENSP00000410031:R222C;ENSP00000395243:R169C	ENSP00000275493:R222C	R	+	1	0	EGFR	55187768	1.000000	0.71417	0.977000	0.42913	0.973000	0.67179	4.487000	0.60293	2.448000	0.82819	0.655000	0.94253	CGC		0.597	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
SPAM1	6677	broad.mit.edu	37	7	123593667	123593667	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:123593667G>A	ENST00000439500.1	+	4	656	c.43G>A	c.(43-45)Gtt>Att	p.V15I	SPAM1_ENST00000340011.5_Missense_Mutation_p.V15I|SPAM1_ENST00000460182.1_Missense_Mutation_p.V15I|SPAM1_ENST00000402183.2_Missense_Mutation_p.V15I|SPAM1_ENST00000223028.7_Missense_Mutation_p.V15I	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	15					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGAAGCTTTGTTAAATCAAG	0.373																																						uc003vld.2																			0				ovary(3)|kidney(1)	4						c.(43-45)GTT>ATT		sperm adhesion molecule 1 isoform 2	Hyaluronidase(DB00070)						85.0	81.0	83.0					7																	123593667		2203	4300	6503	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123593667G>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.43G>A	7.37:g.123593667G>A	ENSP00000402123:p.Val15Ile					SPAM1_uc003vle.2_Missense_Mutation_p.V15I|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.V15I|SPAM1_uc010lku.2_Missense_Mutation_p.V15I	p.V15I	NM_153189	NP_694859	P38567	HYALP_HUMAN			4	445	+			15					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.43G>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665942	0.29604	.	.	ENSG00000106304	ENST00000402183;ENST00000413927;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T;T	0.47528	2.52;0.84;2.52;2.51;2.52;2.52	6.02	1.06	0.20224	.	0.976907	0.08402	N	0.951203	T	0.36441	0.0967	L	0.50333	1.59	0.09310	N	1	B;B	0.23377	0.084;0.084	B;B	0.14578	0.011;0.011	T	0.26467	-1.0102	10	0.30078	T	0.28	-11.3083	3.2985	0.06974	0.1421:0.2802:0.4517:0.126	.	15;15	Q8TC30;P38567	.;HYALP_HUMAN	I	15	ENSP00000386028:V15I;ENSP00000391491:V15I;ENSP00000417934:V15I;ENSP00000345849:V15I;ENSP00000402123:V15I;ENSP00000223028:V15I	ENSP00000223028:V15I	V	+	1	0	SPAM1	123380903	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.059000	0.11731	-0.082000	0.12640	0.650000	0.86243	GTT		0.373	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1		
CUL1	8454	broad.mit.edu	37	7	148484161	148484161	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:148484161C>G	ENST00000325222.4	+	13	1707	c.1428C>G	c.(1426-1428)caC>caG	p.H476Q	CUL1_ENST00000602748.1_Missense_Mutation_p.H476Q|CUL1_ENST00000409469.1_Missense_Mutation_p.H476Q	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	476					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGCTCGTCCACCAGAACAGTG	0.448																																						uc010lpg.2																			0				lung(1)	1						c.(1426-1428)CAC>CAG		cullin 1							90.0	84.0	86.0					7																	148484161		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148484161C>G	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1428C>G	7.37:g.148484161C>G	ENSP00000326804:p.His476Gln					CUL1_uc003wey.2_Missense_Mutation_p.H476Q|CUL1_uc003wez.2_Missense_Mutation_p.H366Q|CUL1_uc003wfa.2_Missense_Mutation_p.H137Q	p.H476Q	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		13	1954	+	Melanoma(164;0.15)		476					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.1428C>G	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	C	9.107	1.005614	0.19199	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.73789	-0.78;-0.78	5.57	-3.98	0.04082	Cullin, N-terminal (1);Cullin homology (3);	0.048856	0.85682	D	0.000000	T	0.51041	0.1651	N	0.05510	-0.035	0.58432	D	0.999999	B;B	0.10296	0.001;0.003	B;B	0.08055	0.003;0.003	T	0.07501	-1.0769	10	0.25751	T	0.34	-34.0447	17.1426	0.86758	0.0:0.6652:0.0:0.3348	.	403;476	E7EWR0;Q13616	.;CUL1_HUMAN	Q	476;476;434;403	ENSP00000387160:H476Q;ENSP00000326804:H476Q	ENSP00000326804:H476Q	H	+	3	2	CUL1	148115094	0.932000	0.31603	0.412000	0.26496	0.351000	0.29236	0.050000	0.14120	-1.177000	0.02744	-0.290000	0.09829	CAC		0.448	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592	
SPATA31A6	389730	broad.mit.edu	37	9	43627428	43627428	+	Missense_Mutation	SNP	G	G	A	rs11261835	byFrequency	TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr9:43627428G>A	ENST00000332857.6	-	4	1287	c.1259C>T	c.(1258-1260)cCc>cTc	p.P420L	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	420					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.P420L(1)									GTGCAGAGAGGGGAGGCCCCA	0.498													G|||	2290	0.457268	0.3593	0.4424	5008	,	,		13778	0.6508		0.4891	False		,,,				2504	0.3681					uc011lrb.1																			1	Substitution - Missense(1)		kidney(1)		0						c.(1258-1260)CCC>CTC		hypothetical protein LOC389730							4.0	6.0	5.0					9																	43627428		577	1492	2069	SO:0001583	missense	389730					integral to membrane		g.chr9:43627428G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1259C>T	9.37:g.43627428G>A	ENSP00000329825:p.Pro420Leu						p.P420L	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	1288	-			420						Missense_Mutation	SNP	ENST00000332857.6	37	c.1259C>T	CCDS47973.1	1071	0.49038461538461536	187	0.3800813008130081	164	0.4530386740331492	357	0.6241258741258742	363	0.4788918205804749	G	16.62	3.174501	0.57692	.	.	ENSG00000185775	ENST00000332857	T	0.64618	-0.11	2.56	2.56	0.30785	.	0.000000	0.52532	D	0.000070	T	0.00012	0.0000	M	0.62154	1.92	0.26385	P	0.9766778	D	0.89917	1.0	D	0.97110	1.0	T	0.49986	-0.8880	9	0.87932	D	0	-6.7679	8.8215	0.35030	0.0:0.0:1.0:0.0	rs11261835	420	Q5VVP1	F75A6_HUMAN	L	420	ENSP00000329825:P420L	ENSP00000329825:P420L	P	-	2	0	FAM75A6	43567424	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	2.801000	0.47908	1.746000	0.51805	0.449000	0.29647	CCC		0.498	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196	
ENG	2022	broad.mit.edu	37	9	130579436	130579436	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr9:130579436T>C	ENST00000373203.4	-	13	2133	c.1733A>G	c.(1732-1734)gAc>gGc	p.D578G	ENG_ENST00000344849.3_Missense_Mutation_p.D578G|RP11-228B15.4_ENST00000439298.1_RNA|RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000480266.1_5'UTR	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	578					artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						ACCAGACAGGTCAGGGCTGAT	0.572									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													uc004bsj.3																			0					0						c.(1732-1734)GAC>GGC		endoglin isoform 1 precursor							128.0	110.0	116.0					9																	130579436		2203	4300	6503	SO:0001583	missense	2022	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130579436T>C	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.1733A>G	9.37:g.130579436T>C	ENSP00000362299:p.Asp578Gly					ENG_uc011mam.1_Missense_Mutation_p.D389G|ENG_uc004bsk.3_Missense_Mutation_p.D578G|uc004bsl.1_RNA	p.D578G	NM_001114753	NP_001108225	P17813	EGLN_HUMAN			13	2146	-			578			Extracellular (Potential).		Q14248|Q14926|Q5T9C0	Missense_Mutation	SNP	ENST00000373203.4	37	c.1733A>G	CCDS48029.1	.	.	.	.	.	.	.	.	.	.	T	6.211	0.406999	0.11754	.	.	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345;ENST00000546301	T;T	0.46063	0.88;1.45	3.62	-3.15	0.05233	.	0.896444	0.09680	N	0.769906	T	0.14657	0.0354	N	0.02539	-0.55	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.16778	-1.0391	10	0.35671	T	0.21	-10.9962	4.6987	0.12816	0.0:0.3504:0.1658:0.4838	.	578;578	Q5T9B9;P17813	.;EGLN_HUMAN	G	578;578;578;396	ENSP00000362299:D578G;ENSP00000341917:D578G	ENSP00000341917:D578G	D	-	2	0	ENG	129619257	0.018000	0.18449	0.094000	0.20943	0.401000	0.30781	-0.087000	0.11215	-0.588000	0.05882	0.459000	0.35465	GAC		0.572	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1		
CACNA1B	774	broad.mit.edu	37	9	141006952	141006952	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr9:141006952A>G	ENST00000371372.1	+	40	5676	c.5531A>G	c.(5530-5532)cAt>cGt	p.H1844R	CACNA1B_ENST00000371355.4_Missense_Mutation_p.H1845R|CACNA1B_ENST00000371365.2_3'UTR|CACNA1B_ENST00000371357.1_Missense_Mutation_p.H1843R|CACNA1B_ENST00000277549.5_Missense_Mutation_p.H1038R|CACNA1B_ENST00000277551.2_Missense_Mutation_p.H1844R|CACNA1B_ENST00000371363.1_Missense_Mutation_p.H1842R	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1844					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GTACCACCCCATAAGCGTAAG	0.577																																						uc004cog.2																			0				breast(3)|large_intestine(2)|ovary(1)	6						c.(5530-5532)CAT>CGT		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						74.0	78.0	77.0					9																	141006952		1972	4151	6123	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141006952A>G	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5531A>G	9.37:g.141006952A>G	ENSP00000360423:p.His1844Arg					CACNA1B_uc004coi.2_Missense_Mutation_p.H1056R|CACNA1B_uc004cok.1_RNA|CACNA1B_uc010ncp.1_Missense_Mutation_p.H124R	p.H1844R	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	39	5676	+	all_cancers(76;0.166)		1844			Cytoplasmic (Potential).		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.5531A>G	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.374865	0.42105	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01	5.14	5.14	0.70334	.	0.290350	0.38381	N	0.001711	T	0.60818	0.2298	M	0.78223	2.4	0.80722	D	1	B;B;B	0.33266	0.404;0.404;0.404	B;B;B	0.27715	0.082;0.082;0.082	T	0.61028	-0.7145	10	0.23891	T	0.37	.	15.1241	0.72469	1.0:0.0:0.0:0.0	.	1844;1843;1842	Q00975;B1AQK7;B1AQK6	CAC1B_HUMAN;.;.	R	1844;1844;1038;1842;1843;1845	ENSP00000360423:H1844R;ENSP00000277551:H1844R;ENSP00000277549:H1038R;ENSP00000360414:H1842R;ENSP00000360408:H1843R;ENSP00000360406:H1845R	ENSP00000277549:H1038R	H	+	2	0	CACNA1B	140126773	1.000000	0.71417	0.999000	0.59377	0.313000	0.28021	5.946000	0.70234	2.152000	0.67230	0.533000	0.62120	CAT		0.577	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
CXorf22	170063	broad.mit.edu	37	X	35938122	35938122	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chrX:35938122G>A	ENST00000297866.5	+	1	272	c.206G>A	c.(205-207)cGc>cAc	p.R69H		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	69										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATATTTGCCGCTGGAACCAG	0.582																																						uc004ddj.2																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(205-207)CGC>CAC		hypothetical protein LOC170063							44.0	37.0	39.0					X																	35938122		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35938122G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.206G>A	X.37:g.35938122G>A	ENSP00000297866:p.Arg69His					CXorf22_uc010ngv.2_RNA	p.R69H	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			1	265	+			69					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.206G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749732	0.30955	.	.	ENSG00000165164	ENST00000297866	T	0.15256	2.44	5.09	3.32	0.38043	.	0.503904	0.21319	N	0.076503	T	0.12944	0.0314	L	0.40543	1.245	0.09310	N	1	B	0.25105	0.118	B	0.17433	0.018	T	0.19289	-1.0310	10	0.44086	T	0.13	-27.6161	7.4295	0.27120	0.2084:0.0:0.7916:0.0	.	69	Q6ZTR5	CX022_HUMAN	H	69	ENSP00000297866:R69H	ENSP00000297866:R69H	R	+	2	0	CXorf22	35848043	0.091000	0.21658	0.002000	0.10522	0.003000	0.03518	0.742000	0.26216	0.488000	0.27723	0.513000	0.50165	CGC		0.582	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
RBMY1E	378950	broad.mit.edu	37	Y	24050305	24050305	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chrY:24050305C>T	ENST00000382659.2	-	12	1380	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q	RBMY1E_ENST00000382658.4_Missense_Mutation_p.R373Q|RBMY1E_ENST00000382673.2_Intron	NM_001006118.2	NP_001006118.2	A6NEQ0	RBY1E_HUMAN	RNA binding motif protein, Y-linked, family 1, member E	410					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			lung(1)	1						ATAGGACATCCGAGGCCCTCT	0.448																																						uc004fuw.3																			0					0						c.(1228-1230)CGG>CAG		RNA binding motif protein, Y-linked, family 1,																																				SO:0001583	missense	378948				male gonad development|mRNA processing|RNA splicing|spermatogenesis	nucleus	nucleotide binding|protein binding|RNA binding	g.chrY:24050305C>T		CCDS35481.1	Yq11.223	2013-02-12			ENSG00000242389	ENSG00000242389		"""RNA binding motif (RRM) containing"""	23916	protein-coding gene	gene with protein product						12815422	Standard	NM_001006118		Approved			A6NEQ0	OTTHUMG00000043602	ENST00000382659.2:c.1229G>A	Y.37:g.24050305C>T	ENSP00000372105:p.Arg410Gln					TTTY6_uc004fut.1_Intron|RBMY1A1_uc010nxc.1_Intron|RBMY1E_uc011nbg.1_Missense_Mutation_p.R373Q|RBMY1B_uc011nbf.1_Missense_Mutation_p.R338Q|RBMY1B_uc010nxd.2_Missense_Mutation_p.R373Q|RBMY1B_uc004fux.3_Missense_Mutation_p.R270Q	p.R410Q	NM_001006121	NP_001006121	A6NDE4	RBY1B_HUMAN			12	1347	-			410					A6NCW6|A6NEG9|A6NKQ5	Missense_Mutation	SNP	ENST00000382659.2	37	c.1229G>A	CCDS35481.1																																																																																				0.448	RBMY1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000101947.1	NM_001006118	
