#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_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TCEB3	6924	broad.mit.edu	37	1	24083610	24083610	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr1:24083610T>C	ENST00000418390.2	+	10	2601	c.2330T>C	c.(2329-2331)gTg>gCg	p.V777A	TCEB3_ENST00000609199.1_Missense_Mutation_p.V751A	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	777					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.V751A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AAACCCACTGTGAAGAGTAAG	0.458																																						uc001bho.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2329-2331)GTG>GCG		elongin A							66.0	66.0	66.0					1																	24083610		2203	4300	6503	SO:0001583	missense	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24083610T>C	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.2330T>C	1.37:g.24083610T>C	ENSP00000395574:p.Val777Ala						p.V777A	NM_003198	NP_003189	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	10	2390	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	777					B2R7Q8|Q8IXH1	Missense_Mutation	SNP	ENST00000418390.2	37	c.2330T>C	CCDS239.2	.	.	.	.	.	.	.	.	.	.	T	10.11	1.261600	0.23051	.	.	ENSG00000011007	ENST00000418390	T	0.10288	2.89	5.41	4.24	0.50183	.	0.115247	0.38381	N	0.001714	T	0.08088	0.0202	N	0.20986	0.625	0.58432	D	0.999999	D	0.56968	0.978	P	0.47376	0.545	T	0.11155	-1.0599	10	0.02654	T	1	-14.5421	11.3173	0.49399	0.0:0.0:0.1514:0.8486	.	777	Q14241	ELOA1_HUMAN	A	777	ENSP00000395574:V777A	ENSP00000395574:V777A	V	+	2	0	TCEB3	23956197	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.466000	0.53071	2.052000	0.61016	0.379000	0.24179	GTG		PASS	0.458	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		36	7	36	7	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34049275	34049275	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr1:34049275C>A	ENST00000373381.4	-	47	7383	c.7207G>T	c.(7207-7209)Gag>Tag	p.E2403*		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2405	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E2405*(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TATTGCTTCTCGCTGAGGAAG	0.502																																						uc001bxn.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(7213-7215)GAG>TAG		CUB and Sushi multiple domains 2							155.0	152.0	153.0					1																	34049275		2203	4300	6503	SO:0001587	stop_gained	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34049275C>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7207G>T	1.37:g.34049275C>A	ENSP00000362479:p.Glu2403*					CSMD2_uc001bxm.1_Nonsense_Mutation_p.E2403*	p.E2405*	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			48	7242	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2405			CUB 14.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Nonsense_Mutation	SNP	ENST00000373381.4	37	c.7213G>T		.	.	.	.	.	.	.	.	.	.	C	49	15.844477	0.99846	.	.	ENSG00000121904	ENST00000373381	.	.	.	5.54	5.54	0.83059	.	0.130327	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	18.4649	0.90751	0.0:1.0:0.0:0.0	.	.	.	.	X	2403	.	ENSP00000241312:E2405X	E	-	1	0	CSMD2	33821862	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	5.555000	0.67301	2.623000	0.88846	0.561000	0.74099	GAG		PASS	0.502	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		4	81	4	81	---	---	---	---
CAP1	10487	broad.mit.edu	37	1	40530017	40530017	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr1:40530017T>C	ENST00000372797.3	+	5	974	c.413T>C	c.(412-414)aTc>aCc	p.I138T	CAP1_ENST00000372792.2_Missense_Mutation_p.I138T|CAP1_ENST00000372798.1_Missense_Mutation_p.I137T|CAP1_ENST00000372802.1_Missense_Mutation_p.I137T|CAP1_ENST00000340450.3_Missense_Mutation_p.I137T|CAP1_ENST00000372805.3_Missense_Mutation_p.I138T	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q13114	TRAF3_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	0					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I138T(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGCGAAAGTATCCAGGCCCTG	0.517																																						uc001cfa.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(412-414)ATC>ACC		adenylyl cyclase-associated protein							70.0	67.0	68.0					1																	40530017		1936	4125	6061	SO:0001583	missense	10487				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding	g.chr1:40530017T>C	L12168	CCDS41309.1	1p34.3	2010-07-13			ENSG00000131236	ENSG00000131236			20040	protein-coding gene	gene with protein product						1406678, 8761950	Standard	NM_006367		Approved	CAP	uc001cey.4	Q01518	OTTHUMG00000004493	ENST00000372797.3:c.413T>C	1.37:g.40530017T>C	ENSP00000361883:p.Ile138Thr					CAP1_uc001cey.3_Missense_Mutation_p.I138T|CAP1_uc001cez.3_Missense_Mutation_p.I138T|CAP1_uc009vvz.2_Missense_Mutation_p.I138T|CAP1_uc010oje.1_Missense_Mutation_p.I55T	p.I138T	NM_006367	NP_006358	Q01518	CAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		5	642	+	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	138					B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	ENST00000372797.3	37	c.413T>C	CCDS41309.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.580568	0.86645	.	.	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000449311;ENST00000421589;ENST00000414281;ENST00000420216;ENST00000372792;ENST00000538246;ENST00000372798;ENST00000340450;ENST00000372805;ENST00000435719;ENST00000427843;ENST00000424977;ENST00000417287	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37	5.39	5.39	0.77823	Adenylate cyclase-associated CAP, N-terminal (2);	0.057328	0.64402	D	0.000001	T	0.45296	0.1335	M	0.84156	2.68	0.58432	D	0.999994	D;D	0.67145	0.996;0.98	D;P	0.72625	0.978;0.876	T	0.51124	-0.8745	10	0.87932	D	0	-17.4186	14.5891	0.68351	0.0:0.0:0.0:1.0	.	85;138	E7ENY9;Q01518	.;CAP1_HUMAN	T	138;137;138;138;138;138;138;115;137;137;138;137;138;138;138	ENSP00000361883:I138T;ENSP00000361888:I137T;ENSP00000398475:I138T;ENSP00000403198:I138T;ENSP00000408561:I138T;ENSP00000410586:I138T;ENSP00000361878:I138T;ENSP00000361884:I137T;ENSP00000344832:I137T;ENSP00000361891:I138T;ENSP00000412859:I137T;ENSP00000413656:I138T;ENSP00000413383:I138T;ENSP00000400943:I138T	ENSP00000344832:I137T	I	+	2	0	CAP1	40302604	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.040000	0.89188	2.040000	0.60383	0.528000	0.53228	ATC		PASS	0.517	CAP1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000013109.1	NM_006367		36	11	36	11	---	---	---	---
EIF2B3	8891	broad.mit.edu	37	1	45444122	45444122	+	Silent	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr1:45444122C>A	ENST00000360403.2	-	3	285	c.159G>T	c.(157-159)gtG>gtT	p.V53V	EIF2B3_ENST00000480675.1_5'UTR|EIF2B3_ENST00000372183.3_Silent_p.V53V	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	53					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)	p.V53V(1)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TGGTTGTAACCACAATGACTT	0.348																																					Colon(26;357 658 2581 11857 12657)	uc001cmt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(157-159)GTG>GTT		eukaryotic translation initiation factor 2B,							175.0	179.0	178.0					1																	45444122		2203	4300	6503	SO:0001819	synonymous_variant	8891				negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity	g.chr1:45444122C>A	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.159G>T	1.37:g.45444122C>A						EIF2B3_uc001cmu.1_Silent_p.V53V|EIF2B3_uc001cmv.1_Silent_p.V53V|EIF2B3_uc001cmw.2_Silent_p.V53V	p.V53V	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN			3	286	-	Acute lymphoblastic leukemia(166;0.155)		53					B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Silent	SNP	ENST00000360403.2	37	c.159G>T	CCDS517.1																																																																																				PASS	0.348	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365		5	117	5	117	---	---	---	---
GPBP1L1	60313	broad.mit.edu	37	1	46099321	46099321	+	Splice_Site	SNP	T	T	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr1:46099321T>A	ENST00000290795.3	-	9	2107		c.e9-2		GPBP1L1_ENST00000355105.3_Splice_Site|GPBP1L1_ENST00000479235.1_Splice_Site			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1						positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					GGAGGGACTCTGGGCAAATAC	0.502																																						uc001coq.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e10-1		GC-rich promoter binding protein 1-like 1							56.0	52.0	53.0					1																	46099321		2203	4300	6503	SO:0001630	splice_region_variant	60313				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:46099321T>A		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.886-2A>T	1.37:g.46099321T>A						GPBP1L1_uc001coo.2_Splice_Site_p.S40_splice	p.S296_splice	NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN			10	2247	-	Acute lymphoblastic leukemia(166;0.155)							D3DQ10|Q9H751	Splice_Site	SNP	ENST00000290795.3	37	c.886_splice	CCDS528.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.501806	0.64298	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	.	.	.	5.69	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2577	0.49063	0.0:0.0:0.1524:0.8475	.	.	.	.	.	-1	.	.	.	-	.	.	GPBP1L1	45871908	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	6.802000	0.75175	2.167000	0.68274	0.482000	0.46254	.		PASS	0.502	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639	Intron	16	3	16	3	---	---	---	---
PRKAA2	5563	broad.mit.edu	37	1	57140174	57140174	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr1:57140174G>A	ENST00000371244.4	+	2	281	c.215G>A	c.(214-216)cGt>cAt	p.R72H		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	72	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.R72H(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	AAACTCTTTCGTCATCCTCAT	0.269																																						uc001cyk.3																			1	Substitution - Missense(1)		lung(1)	breast(4)|ovary(1)|stomach(1)	6						c.(214-216)CGT>CAT		AMP-activated protein kinase alpha 2 catalytic							61.0	69.0	66.0					1																	57140174		2200	4295	6495	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57140174G>A	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.215G>A	1.37:g.57140174G>A	ENSP00000360290:p.Arg72His						p.R72H	NM_006252	NP_006243	P54646	AAPK2_HUMAN			2	286	+			72			Protein kinase.		Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.215G>A	CCDS605.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099313	0.94197	.	.	ENSG00000162409	ENST00000371244	T	0.25749	1.78	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050022	0.85682	D	0.000000	T	0.42426	0.1202	L	0.31752	0.955	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.31251	-0.9950	10	0.72032	D	0.01	-20.3631	19.7014	0.96054	0.0:0.0:1.0:0.0	.	72	P54646	AAPK2_HUMAN	H	72	ENSP00000360290:R72H	ENSP00000360290:R72H	R	+	2	0	PRKAA2	56912762	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.392000	0.97252	2.729000	0.93468	0.655000	0.94253	CGT		PASS	0.269	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		18	38	18	38	---	---	---	---
FGGY	55277	broad.mit.edu	37	1	60139733	60139733	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr1:60139733A>T	ENST00000303721.7	+	14	1614	c.1440A>T	c.(1438-1440)caA>caT	p.Q480H	FGGY_ENST00000371218.4_Missense_Mutation_p.Q504H|FGGY_ENST00000371212.1_Missense_Mutation_p.Q392H|FGGY_ENST00000371210.1_Missense_Mutation_p.Q181H	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	480					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.Q480H(1)|p.Q368H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCTGTCGCAAGAGGTGGAGT	0.612																																						uc001czi.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1438-1440)CAA>CAT		FGGY carbohydrate kinase domain containing							216.0	138.0	164.0					1																	60139733		2203	4300	6503	SO:0001583	missense	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:60139733A>T		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.1440A>T	1.37:g.60139733A>T	ENSP00000305922:p.Gln480His					FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.Q504H|FGGY_uc001czj.3_Missense_Mutation_p.Q479H|FGGY_uc001czk.3_Missense_Mutation_p.Q368H|FGGY_uc001czl.3_Missense_Mutation_p.Q392H|FGGY_uc001czm.3_Missense_Mutation_p.Q181H	p.Q480H	NM_018291	NP_060761	Q96C11	FGGY_HUMAN			14	1652	+	all_cancers(7;7.36e-05)		480					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	ENST00000303721.7	37	c.1440A>T	CCDS611.2	.	.	.	.	.	.	.	.	.	.	A	11.87	1.768078	0.31320	.	.	ENSG00000172456	ENST00000371218;ENST00000303721;ENST00000371212;ENST00000371210	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.55	0.732	0.18283	Carbohydrate kinase, FGGY, C-terminal (1);	0.402582	0.28736	N	0.014303	T	0.80534	0.4641	L	0.31476	0.935	0.29551	N	0.851362	B;B;P;B	0.49696	0.004;0.01;0.927;0.01	B;B;P;B	0.52109	0.012;0.006;0.69;0.003	T	0.74884	-0.3512	9	.	.	.	-5.5259	9.1764	0.37114	0.6505:0.0:0.3495:0.0	.	504;392;480;480	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	H	504;480;392;181	ENSP00000360262:Q504H;ENSP00000305922:Q480H;ENSP00000360256:Q392H;ENSP00000360254:Q181H	.	Q	+	3	2	FGGY	59912321	0.999000	0.42202	0.951000	0.38953	0.934000	0.57294	0.754000	0.26390	-0.032000	0.13758	-0.334000	0.08254	CAA		PASS	0.612	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		4	10	4	10	---	---	---	---
DOCK7	85440	broad.mit.edu	37	1	63100504	63100504	+	Silent	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr1:63100504C>A	ENST00000340370.5	-	9	992	c.975G>T	c.(973-975)ctG>ctT	p.L325L	DOCK7_ENST00000404627.2_Silent_p.L325L|DOCK7_ENST00000251157.5_Silent_p.L325L	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	325					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.L325L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTGATCTTGCCAGGGTAGTAA	0.318																																						uc001daq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(973-975)CTG>CTT		dedicator of cytokinesis 7							120.0	130.0	127.0					1																	63100504		2203	4300	6503	SO:0001819	synonymous_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63100504C>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.975G>T	1.37:g.63100504C>A						DOCK7_uc001dan.2_Silent_p.L217L|DOCK7_uc001dao.2_Silent_p.L217L|DOCK7_uc001dap.2_Silent_p.L325L|DOCK7_uc009wah.1_Silent_p.L325L	p.L325L	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			9	1009	-			325					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	c.975G>T	CCDS30734.1																																																																																				PASS	0.318	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		5	99	5	99	---	---	---	---
KCNA10	3744	broad.mit.edu	37	1	111060834	111060834	+	Silent	SNP	C	C	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr1:111060834C>T	ENST00000369771.2	-	1	963	c.576G>A	c.(574-576)ctG>ctA	p.L192L		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	192					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.L192L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	TGGTGGGTAGCAGTGTTTCAG	0.527																																						uc001dzt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(574-576)CTG>CTA		potassium voltage-gated channel, shaker-related							133.0	132.0	132.0					1																	111060834		2203	4300	6503	SO:0001819	synonymous_variant	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060834C>T	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.576G>A	1.37:g.111060834C>T							p.L192L	NM_005549	NP_005540	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	964	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	192						Silent	SNP	ENST00000369771.2	37	c.576G>A	CCDS826.1																																																																																				PASS	0.527	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		18	7	18	7	---	---	---	---
NBPF15	284565	broad.mit.edu	37	1	148594604	148594604	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr1:148594604C>G	ENST00000369187.3	+	19	2466	c.1977C>G	c.(1975-1977)caC>caG	p.H659Q	NBPF15_ENST00000442702.2_Missense_Mutation_p.H659Q	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	659	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.H659Q(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CAAGTCTCCACCTGGTGTTCC	0.453																																						uc001esc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1975-1977)CAC>CAG		hypothetical protein LOC284565							25.0	33.0	30.0					1																	148594604		1921	4169	6090	SO:0001583	missense	284565					cytoplasm		g.chr1:148594604C>G	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"""neuroblastoma breakpoint family"""	28791	protein-coding gene	gene with protein product		610414, 614005	"""neuroblastoma breakpoint family, member 16"""	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1977C>G	1.37:g.148594604C>G	ENSP00000358188:p.His659Gln						p.H659Q	NM_173638	NP_775909	Q8N660	NBPFF_HUMAN			19	2466	+	all_hematologic(923;0.032)		659			NBPF 6.		Q3BBV9|Q8IX77	Missense_Mutation	SNP	ENST00000369187.3	37	c.1977C>G	CCDS932.1	.	.	.	.	.	.	.	.	.	.	.	1.865	-0.461575	0.04508	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.03772	3.81;3.81	.	.	.	DUF1220 (1);	.	.	.	.	T	0.04679	0.0127	L	0.55481	1.735	0.09310	N	1	P	0.44006	0.824	P	0.60886	0.88	T	0.27502	-1.0072	7	0.87932	D	0	.	.	.	.	.	659	Q8N660	NBPFF_HUMAN	Q	659	ENSP00000416864:H659Q;ENSP00000358188:H659Q	ENSP00000358188:H659Q	H	+	3	2	NBPF15	146861228	0.026000	0.19158	0.001000	0.08648	0.008000	0.06430	-0.616000	0.05591	-0.728000	0.04882	0.152000	0.16155	CAC		PASS	0.453	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		4	81	4	81	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152286268	152286268	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr1:152286268G>T	ENST00000368799.1	-	3	1129	c.1094C>A	c.(1093-1095)tCt>tAt	p.S365Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	365	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S365Y(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCCACGAGAGGAAGTCTC	0.562									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(1093-1095)TCT>TAT		filaggrin							303.0	295.0	298.0					1																	152286268		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152286268G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1094C>A	1.37:g.152286268G>T	ENSP00000357789:p.Ser365Tyr					uc001ezv.2_RNA	p.S365Y	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1130	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		365			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1094C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	10.47	1.358916	0.24598	.	.	ENSG00000143631	ENST00000368799	T	0.00902	5.56	3.94	-3.77	0.04346	.	.	.	.	.	T	0.01189	0.0039	M	0.73598	2.24	0.09310	N	1	D	0.76494	0.999	D	0.85130	0.997	T	0.41520	-0.9504	9	0.59425	D	0.04	.	2.3758	0.04342	0.1007:0.3805:0.183:0.3358	.	365	P20930	FILA_HUMAN	Y	365	ENSP00000357789:S365Y	ENSP00000357789:S365Y	S	-	2	0	FLG	150552892	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.221000	0.09202	-0.583000	0.05921	0.400000	0.26472	TCT		PASS	0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	270	7	270	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156913790	156913790	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr1:156913790T>A	ENST00000361409.2	-	31	3794	c.3052A>T	c.(3052-3054)Agc>Tgc	p.S1018C	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.S434C|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.S1058C	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1018	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1058C(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTCTGCTTGCTGTCTGAGGAG	0.592																																						uc001fqo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(3052-3054)AGC>TGC		Rho guanine nucleotide exchange factor (GEF) 11							112.0	98.0	102.0					1																	156913790		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156913790T>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.3052A>T	1.37:g.156913790T>A	ENSP00000354644:p.Ser1018Cys					ARHGEF11_uc010phu.1_Missense_Mutation_p.S434C|ARHGEF11_uc001fqn.2_Missense_Mutation_p.S1058C	p.S1018C	NM_014784	NP_055599	O15085	ARHGB_HUMAN			31	4092	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1018			PH.		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.3052A>T	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808905	0.70797	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.65549	-0.16;-0.16;-0.16	4.91	3.79	0.43588	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.188378	0.38005	N	0.001841	T	0.46946	0.1419	L	0.58101	1.795	0.48236	D	0.99961	P;P;P	0.50617	0.907;0.937;0.845	B;P;B	0.44597	0.438;0.454;0.434	T	0.53556	-0.8422	10	0.72032	D	0.01	-10.1278	10.1872	0.43004	0.0:0.0791:0.0:0.9209	.	434;1018;1058	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	C	1058;1018;434	ENSP00000357177:S1058C;ENSP00000354644:S1018C;ENSP00000313470:S434C	ENSP00000313470:S434C	S	-	1	0	ARHGEF11	155180414	0.994000	0.37717	1.000000	0.80357	0.991000	0.79684	2.210000	0.42816	0.900000	0.36469	0.459000	0.35465	AGC		PASS	0.592	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		23	27	23	27	---	---	---	---
OR6K3	391114	broad.mit.edu	37	1	158687691	158687691	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr1:158687691C>A	ENST00000368146.1	-	1	262	c.263G>T	c.(262-264)tGg>tTg	p.W88L	OR6K3_ENST00000368145.1_Missense_Mutation_p.W72L			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W88*(1)|p.W88L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TGTGGTGTACCAGATCTCCAG	0.423																																						uc010pip.1																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(262-264)TGG>TTG		olfactory receptor, family 6, subfamily K,							140.0	148.0	145.0					1																	158687691		2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687691C>A	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.263G>T	1.37:g.158687691C>A	ENSP00000357128:p.Trp88Leu						p.W88L	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	263	-	all_hematologic(112;0.0378)		88			Helical; Name=2; (Potential).		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.263G>T		.	.	.	.	.	.	.	.	.	.	C	16.86	3.240207	0.58995	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.01313	5.02;5.02	3.95	3.95	0.45737	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01421	0.0046	N	0.25332	0.735	0.09310	N	1	D	0.69078	0.997	P	0.60173	0.87	T	0.55379	-0.8150	9	0.62326	D	0.03	.	11.3346	0.49496	0.0:0.8148:0.1852:0.0	.	88	Q8NGY3	OR6K3_HUMAN	L	72;88	ENSP00000357127:W72L;ENSP00000357128:W88L	ENSP00000357127:W72L	W	-	2	0	OR6K3	156954315	0.001000	0.12720	0.784000	0.31847	0.982000	0.71751	1.241000	0.32743	2.175000	0.68902	0.460000	0.39030	TGG		PASS	0.423	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				59	71	59	71	---	---	---	---
OR10J5	127385	broad.mit.edu	37	1	159505361	159505361	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr1:159505361C>G	ENST00000334857.2	-	1	481	c.437G>C	c.(436-438)tGt>tCt	p.C146S		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C146S(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AAAGGACCCACACACCAGCTG	0.512																																						uc010piw.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(436-438)TGT>TCT		olfactory receptor, family 10, subfamily J,							135.0	103.0	114.0					1																	159505361		2203	4300	6503	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505361C>G		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.437G>C	1.37:g.159505361C>G	ENSP00000334441:p.Cys146Ser						p.C146S	NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN			1	437	-	all_hematologic(112;0.0429)		146			Helical; Name=4; (Potential).		B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.437G>C	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.447021	0.01089	.	.	ENSG00000184155	ENST00000334857	T	0.36157	1.27	3.93	-0.477	0.12097	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03263	0.0095	N	0.01410	-0.885	0.27479	N	0.952633	B	0.09022	0.002	B	0.11329	0.006	T	0.42103	-0.9471	9	0.28530	T	0.3	.	4.318	0.11002	0.0:0.4107:0.3693:0.2201	.	146	Q8NHC4	O10J5_HUMAN	S	146	ENSP00000334441:C146S	ENSP00000334441:C146S	C	-	2	0	OR10J5	157771985	0.000000	0.05858	0.266000	0.24541	0.059000	0.15707	-0.022000	0.12480	0.094000	0.17404	-0.365000	0.07479	TGT		PASS	0.512	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		23	33	23	33	---	---	---	---
KCNJ9	3765	broad.mit.edu	37	1	160057308	160057308	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr1:160057308G>T	ENST00000368088.3	+	3	1125	c.883G>T	c.(883-885)Gta>Tta	p.V295L		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	295					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.V295L(1)		biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCCTACCTGGTAGACGAGGT	0.582																																						uc001fuy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(883-885)GTA>TTA		potassium inwardly-rectifying channel subfamily							59.0	57.0	58.0					1																	160057308		2203	4300	6503	SO:0001583	missense	3765				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr1:160057308G>T	U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.883G>T	1.37:g.160057308G>T	ENSP00000357067:p.Val295Leu						p.V295L	NM_004983	NP_004974	Q92806	IRK9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	1125	+	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		295			Cytoplasmic (By similarity).		Q5JW75	Missense_Mutation	SNP	ENST00000368088.3	37	c.883G>T	CCDS1194.1	.	.	.	.	.	.	.	.	.	.	g	16.38	3.106102	0.56291	.	.	ENSG00000162728	ENST00000368088	D	0.91068	-2.78	4.23	4.23	0.50019	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.323928	0.28119	U	0.016539	T	0.72875	0.3515	N	0.05078	-0.115	0.32556	N	0.531748	B	0.25441	0.126	B	0.32393	0.145	T	0.68876	-0.5293	10	0.36615	T	0.2	.	15.378	0.74630	0.0:0.0:1.0:0.0	.	295	Q92806	IRK9_HUMAN	L	295	ENSP00000357067:V295L	ENSP00000357067:V295L	V	+	1	0	KCNJ9	158323932	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.123000	0.57917	1.911000	0.55334	0.556000	0.70494	GTA		PASS	0.582	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060628.1	NM_004983		4	44	4	44	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186106962	186106962	+	Silent	SNP	T	T	C			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr1:186106962T>C	ENST00000271588.4	+	89	14011	c.13782T>C	c.(13780-13782)ctT>ctC	p.L4594L	HMCN1_ENST00000367492.2_Silent_p.L4594L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4594	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.L4594L(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATGGAGTCTTTGGGAAGAAT	0.488																																						uc001grq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(22)|skin(1)	23						c.(13780-13782)CTT>CTC		hemicentin 1 precursor							178.0	174.0	176.0					1																	186106962		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186106962T>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13782T>C	1.37:g.186106962T>C						HMCN1_uc001grs.1_Silent_p.L163L	p.L4594L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			89	14011	+			4594			TSP type-1 2.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.13782T>C	CCDS30956.1																																																																																				PASS	0.488	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		34	42	34	42	---	---	---	---
RASSF5	83593	broad.mit.edu	37	1	206711563	206711563	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr1:206711563G>C	ENST00000355294.4	+	2	577	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	RASSF5_ENST00000367117.3_Missense_Mutation_p.E174Q	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	174					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.E174Q(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGTCAGCAGGAGGGTTTATC	0.547																																					GBM(162;656 1984 11916 22872 31529)	uc001hed.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(520-522)GAG>CAG		Ras association (RalGDS/AF-6) domain family 5							142.0	131.0	135.0					1																	206711563		2203	4300	6503	SO:0001583	missense	83593				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding	g.chr1:206711563G>C	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.520G>C	1.37:g.206711563G>C	ENSP00000347443:p.Glu174Gln					RASSF5_uc001hec.1_Missense_Mutation_p.E174Q|RASSF5_uc001hee.2_Missense_Mutation_p.E174Q	p.E174Q	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		2	577	+	Breast(84;0.183)		174					A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	ENST00000355294.4	37	c.520G>C	CCDS30998.1	.	.	.	.	.	.	.	.	.	.	G	9.439	1.087616	0.20390	.	.	ENSG00000136653	ENST00000355294;ENST00000367117;ENST00000338603;ENST00000367118	T;T;T	0.14022	3.14;2.56;2.54	5.84	1.35	0.21983	.	1.316600	0.04745	N	0.423447	T	0.07728	0.0194	N	0.02011	-0.69	0.35285	D	0.781683	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.10450	0.002;0.005;0.002	T	0.34775	-0.9815	10	0.26408	T	0.33	-10.0232	16.5228	0.84321	0.0:0.556:0.444:0.0	.	174;174;176	Q8WWW0-3;Q8WWW0;Q59GG4	.;RASF5_HUMAN;.	Q	174	ENSP00000347443:E174Q;ENSP00000356084:E174Q;ENSP00000342620:E174Q	ENSP00000342620:E174Q	E	+	1	0	RASSF5	204778186	0.949000	0.32298	0.351000	0.25721	0.912000	0.54170	1.030000	0.30153	0.336000	0.23639	0.563000	0.77884	GAG		PASS	0.547	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437		13	60	13	60	---	---	---	---
OR2T8	343172	broad.mit.edu	37	1	248085236	248085236	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr1:248085236G>T	ENST00000319968.4	+	1	917	c.917G>T	c.(916-918)tGt>tTt	p.C306F		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C306F(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATGGGTCGGTGTGTGGCCTTA	0.423																																						uc010pzc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(916-918)TGT>TTT		olfactory receptor, family 2, subfamily T,							136.0	132.0	133.0					1																	248085236		2203	4300	6503	SO:0001583	missense	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248085236G>T		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.917G>T	1.37:g.248085236G>T	ENSP00000326225:p.Cys306Phe						p.C306F	NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	917	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	306			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000319968.4	37	c.917G>T	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	G	8.472	0.857874	0.17178	.	.	ENSG00000177462	ENST00000319968	T	0.38240	1.15	3.21	2.28	0.28536	.	1.378640	0.05547	U	0.566844	T	0.15132	0.0365	N	0.11201	0.11	0.09310	N	1	P	0.36392	0.551	B	0.26310	0.068	T	0.14980	-1.0453	10	0.17832	T	0.49	.	3.4418	0.07466	0.1383:0.0:0.6064:0.2552	.	306	A6NH00	OR2T8_HUMAN	F	306	ENSP00000326225:C306F	ENSP00000326225:C306F	C	+	2	0	OR2T8	246151859	0.000000	0.05858	0.002000	0.10522	0.042000	0.13812	-0.082000	0.11304	1.799000	0.52666	0.536000	0.68110	TGT		PASS	0.423	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		26	60	26	60	---	---	---	---
FAM84A	151354	broad.mit.edu	37	2	14774177	14774177	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr2:14774177A>T	ENST00000295092.2	+	2	362	c.74A>T	c.(73-75)gAa>gTa	p.E25V	AC011897.1_ENST00000581929.1_5'Flank|FAM84A_ENST00000331243.4_Missense_Mutation_p.E25V	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	25								p.E25V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			TCGGGGATTGAAAAGGACGAA	0.622																																						uc002rbz.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(73-75)GAA>GTA		family with sequence similarity 84, member A							31.0	36.0	34.0					2																	14774177		2203	4300	6503	SO:0001583	missense	151354							g.chr2:14774177A>T	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.74A>T	2.37:g.14774177A>T	ENSP00000295092:p.Glu25Val					FAM84A_uc002rca.1_5'Flank	p.E25V	NM_145175	NP_660158	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)		2	316	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		25					A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Missense_Mutation	SNP	ENST00000295092.2	37	c.74A>T	CCDS1684.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.546052	0.86022	.	.	ENSG00000162981	ENST00000295092;ENST00000331243;ENST00000359969	T;T	0.05081	3.5;3.5	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.16428	0.0395	L	0.38175	1.15	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.00885	-1.1527	10	0.87932	D	0	-22.7127	13.9245	0.63955	1.0:0.0:0.0:0.0	.	25	Q96KN4	FA84A_HUMAN	V	25	ENSP00000295092:E25V;ENSP00000330681:E25V	ENSP00000295092:E25V	E	+	2	0	FAM84A	14691628	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.283000	0.95860	1.919000	0.55581	0.533000	0.62120	GAA		PASS	0.622	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	NM_145175		7	24	7	24	---	---	---	---
RAD51AP2	729475	broad.mit.edu	37	2	17697653	17697653	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr2:17697653G>T	ENST00000399080.2	-	1	2053	c.2030C>A	c.(2029-2031)aCa>aAa	p.T677K		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	677								p.T677K(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CGGAAAACCTGTATTTTGAGT	0.274																																						uc002rcl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2029-2031)ACA>AAA		RAD51 associated protein 2							34.0	33.0	34.0					2																	17697653		1801	4034	5835	SO:0001583	missense	729475							g.chr2:17697653G>T	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.2030C>A	2.37:g.17697653G>T	ENSP00000382030:p.Thr677Lys					RAD51AP2_uc010exn.1_Missense_Mutation_p.T668K	p.T677K	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN			1	2054	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		677						Missense_Mutation	SNP	ENST00000399080.2	37	c.2030C>A	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	G	0.054	-1.241390	0.01493	.	.	ENSG00000214842	ENST00000399080	T	0.21031	2.03	3.98	-7.97	0.01139	.	.	.	.	.	T	0.06096	0.0158	N	0.04508	-0.205	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.32161	-0.9917	9	0.16420	T	0.52	.	3.733	0.08500	0.1175:0.09:0.3453:0.4472	.	677	Q09MP3	R51A2_HUMAN	K	677	ENSP00000382030:T677K	ENSP00000382030:T677K	T	-	2	0	RAD51AP2	17561134	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.326000	0.01114	-2.106000	0.00841	-0.469000	0.05056	ACA		PASS	0.274	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		5	36	5	36	---	---	---	---
APOB	338	broad.mit.edu	37	2	21236080	21236080	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr2:21236080G>T	ENST00000233242.1	-	25	4295	c.4168C>A	c.(4168-4170)Cac>Aac	p.H1390N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1390					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.H1390N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTTCATGTGGTAACGAGCC	0.532																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(4168-4170)CAC>AAC		apolipoprotein B precursor	Atorvastatin(DB01076)						161.0	151.0	154.0					2																	21236080		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21236080G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4168C>A	2.37:g.21236080G>T	ENSP00000233242:p.His1390Asn						p.H1390N	NM_000384	NP_000375	P04114	APOB_HUMAN			25	4296	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1390					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.4168C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	5.861	0.342965	0.11069	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00678	5.87	5.31	3.51	0.40186	.	0.903905	0.09516	N	0.791669	T	0.00906	0.0030	L	0.50919	1.6	0.09310	N	0.999998	B	0.10296	0.003	B	0.06405	0.002	T	0.51395	-0.8711	10	0.19590	T	0.45	.	2.0413	0.03551	0.2149:0.2277:0.4348:0.1226	.	1390	P04114	APOB_HUMAN	N	1390	ENSP00000233242:H1390N	ENSP00000233242:H1390N	H	-	1	0	APOB	21089585	0.099000	0.21834	0.185000	0.23176	0.286000	0.27126	0.413000	0.21148	0.738000	0.32606	0.557000	0.71058	CAC		PASS	0.532	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			6	167	6	167	---	---	---	---
UBXN2A	165324	broad.mit.edu	37	2	24199905	24199905	+	Missense_Mutation	SNP	G	G	A	rs187715305	byFrequency	TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr2:24199905G>A	ENST00000309033.4	+	4	491	c.247G>A	c.(247-249)Gat>Aat	p.D83N	UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000535786.1_Missense_Mutation_p.D83N|UBXN2A_ENST00000404924.1_Missense_Mutation_p.D83N	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	83	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.				regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)		p.D83N(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						AAGTTATTCCGATGGTGCCAG	0.433													G|||	6	0.00119808	0.0	0.0	5008	,	,		14019	0.005		0.0	False		,,,				2504	0.001					uc010exy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)GAT>AAT		UBX domain containing 4							72.0	69.0	70.0					2																	24199905		2203	4300	6503	SO:0001583	missense	165324							g.chr2:24199905G>A	BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"""UBX domain containing"""	27265	protein-coding gene	gene with protein product			"""UBX domain containing 4"""	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.247G>A	2.37:g.24199905G>A	ENSP00000312107:p.Asp83Asn					UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.D83N|UBXN2A_uc010ykj.1_Missense_Mutation_p.D83N	p.D83N	NM_181713	NP_859064	P68543	UBX2A_HUMAN			5	715	+			83			SEP.		A8K577|B7ZKP8|Q569G8	Missense_Mutation	SNP	ENST00000309033.4	37	c.247G>A	CCDS1704.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	23.1	4.369109	0.82463	.	.	ENSG00000173960	ENST00000404924;ENST00000309033;ENST00000535786	T;T;T	0.57907	0.37;0.37;0.43	4.81	3.93	0.45458	SEP domain (4);	0.222867	0.45867	D	0.000337	T	0.72930	0.3522	M	0.85710	2.77	0.44302	D	0.997177	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.958	T	0.77180	-0.2682	10	0.59425	D	0.04	-3.1498	12.5917	0.56447	0.0841:0.0:0.9159:0.0	.	83;83	B7ZKP8;P68543	.;UBX2A_HUMAN	N	83	ENSP00000385525:D83N;ENSP00000312107:D83N;ENSP00000440533:D83N	ENSP00000312107:D83N	D	+	1	0	UBXN2A	24053409	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.486000	0.73629	1.341000	0.45600	0.561000	0.74099	GAT		PASS	0.433	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246824.2	NM_181713		6	74	6	74	---	---	---	---
PNPT1	87178	broad.mit.edu	37	2	55895077	55895077	+	Silent	SNP	G	G	C	rs147013543		TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr2:55895077G>C	ENST00000447944.2	-	12	1079	c.993C>G	c.(991-993)gcC>gcG	p.A331A		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	331					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)	p.A331A(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CATATGGATCGGCTTCTGGAA	0.279																																						uc002rzf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(991-993)GCC>GCG		polyribonucleotide nucleotidyltransferase 1							41.0	44.0	43.0					2																	55895077		2198	4290	6488	SO:0001819	synonymous_variant	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55895077G>C	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.993C>G	2.37:g.55895077G>C						PNPT1_uc002rzg.2_RNA	p.A331A	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		12	1046	-			331					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Silent	SNP	ENST00000447944.2	37	c.993C>G	CCDS1856.1																																																																																				PASS	0.279	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		8	23	8	23	---	---	---	---
WDR54	84058	broad.mit.edu	37	2	74652764	74652764	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr2:74652764C>A	ENST00000348227.4	+	10	1029	c.941C>A	c.(940-942)tCa>tAa	p.S314*	WDR54_ENST00000409791.1_Intron	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	314								p.S314*(1)		breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						TGTGATTCCTCAGGCAACTCC	0.557																																						uc002slb.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(940-942)TCA>TAA		WD repeat domain 54							172.0	164.0	167.0					2																	74652764		2203	4300	6503	SO:0001587	stop_gained	84058							g.chr2:74652764C>A	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.941C>A	2.37:g.74652764C>A	ENSP00000006526:p.Ser314*						p.S314*	NM_032118	NP_115494	Q9H977	WDR54_HUMAN			10	1001	+			314					D6W5I3|Q53H85|Q86V45	Nonsense_Mutation	SNP	ENST00000348227.4	37	c.941C>A	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211298	0.39102	.	.	ENSG00000005448	ENST00000348227	.	.	.	4.74	0.685	0.18009	.	0.844881	0.10442	N	0.674248	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	0.0112	0.8883	0.01249	0.2797:0.3756:0.1538:0.1909	.	.	.	.	X	314	.	ENSP00000006526:S314X	S	+	2	0	WDR54	74506272	0.121000	0.22262	0.088000	0.20740	0.810000	0.45777	0.782000	0.26788	0.606000	0.29965	0.655000	0.94253	TCA		PASS	0.557	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		6	175	6	175	---	---	---	---
IL1R2	7850	broad.mit.edu	37	2	102632492	102632492	+	Silent	SNP	C	C	T	rs201321487	byFrequency	TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr2:102632492C>T	ENST00000332549.3	+	4	721	c.492C>T	c.(490-492)gaC>gaT	p.D164D	IL1R2_ENST00000393414.2_Silent_p.D164D|IL1R2_ENST00000441002.1_Silent_p.D164D	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	164	Ig-like C2-type 2.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.D164D(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						ACAAAACTGACGTGAAGATTC	0.378													C|||	3	0.000599042	0.0	0.0	5008	,	,		18811	0.003		0.0	False		,,,				2504	0.0				Pancreas(106;189 1628 2302 5133 12295)	uc002tbm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(490-492)GAC>GAT		interleukin 1 receptor, type II precursor	Anakinra(DB00026)						64.0	61.0	62.0					2																	102632492		2203	4300	6503	SO:0001819	synonymous_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102632492C>T	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.492C>T	2.37:g.102632492C>T						IL1R2_uc002tbn.2_Silent_p.D164D|IL1R2_uc002tbo.1_Silent_p.D164D	p.D164D	NM_004633	NP_004624	P27930	IL1R2_HUMAN			4	721	+			164			Extracellular (Potential).|Ig-like C2-type 2.		D3DVJ5|Q6LCE6|Q9UE68	Silent	SNP	ENST00000332549.3	37	c.492C>T	CCDS2054.1																																																																																				PASS	0.378	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		7	24	7	24	---	---	---	---
GPR39	2863	broad.mit.edu	37	2	133402844	133402844	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr2:133402844C>A	ENST00000329321.3	+	2	1496	c.1027C>A	c.(1027-1029)Ctg>Atg	p.L343M	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	343					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)	p.L343M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAACCCGCTCCTGTACACGGT	0.622																																						uc002ttl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1027-1029)CTG>ATG		G protein-coupled receptor 39							102.0	89.0	93.0					2																	133402844		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402844C>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1027C>A	2.37:g.133402844C>A	ENSP00000327417:p.Leu343Met					LYPD1_uc002ttm.3_3'UTR|LYPD1_uc002ttn.2_3'UTR|LYPD1_uc002tto.2_3'UTR	p.L343M	NM_001508	NP_001499	O43194	GPR39_HUMAN			2	1496	+			343			Helical; Name=7; (Potential).		B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.1027C>A	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338295	0.81911	.	.	ENSG00000183840	ENST00000329321	T	0.43294	0.95	5.3	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.084411	0.49916	D	0.000129	T	0.67297	0.2878	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72984	-0.4125	10	0.87932	D	0	.	10.5393	0.45024	0.0:0.8529:0.0:0.1471	.	343	O43194	GPR39_HUMAN	M	343	ENSP00000327417:L343M	ENSP00000327417:L343M	L	+	1	2	GPR39	133119314	0.999000	0.42202	0.978000	0.43139	0.991000	0.79684	3.949000	0.56668	1.486000	0.48398	0.650000	0.86243	CTG		PASS	0.622	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			5	54	5	54	---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160294950	160294950	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr2:160294950G>T	ENST00000392783.2	-	8	1652	c.1157C>A	c.(1156-1158)cCt>cAt	p.P386H	BAZ2B_ENST00000355831.2_Missense_Mutation_p.P386H|BAZ2B_ENST00000392782.1_Missense_Mutation_p.P384H|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P384H	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	386					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P386H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CAAAGATAAAGGTTTCACATT	0.383																																						uc002uao.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1156-1158)CCT>CAT		bromodomain adjacent to zinc finger domain, 2B							127.0	117.0	120.0					2																	160294950		1840	4093	5933	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160294950G>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1157C>A	2.37:g.160294950G>T	ENSP00000376534:p.Pro386His					BAZ2B_uc002uap.2_Missense_Mutation_p.P384H|BAZ2B_uc002uas.1_Missense_Mutation_p.P323H|BAZ2B_uc002uau.1_Missense_Mutation_p.P384H|BAZ2B_uc002uaq.1_Missense_Mutation_p.P314H|BAZ2B_uc002uat.3_3'UTR|BAZ2B_uc010fop.1_Missense_Mutation_p.P384H	p.P386H	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			8	1509	-			386					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.1157C>A	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303897	0.60305	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.35	5.35	0.76521	.	0.000000	0.36854	U	0.002371	D	0.93592	0.7954	L	0.60455	1.87	0.58432	D	0.999996	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;0.998;0.999;0.999;0.997	D	0.94065	0.7330	10	0.87932	D	0	-10.7589	19.0931	0.93235	0.0:0.0:1.0:0.0	.	384;386;384;384;386	Q6MZK7;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;BAZ2B_HUMAN	H	384;386;386;384;323	ENSP00000376533:P384H;ENSP00000376534:P386H;ENSP00000348087:P386H;ENSP00000339670:P384H	ENSP00000339670:P384H	P	-	2	0	BAZ2B	160003196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.884000	0.87274	2.489000	0.83994	0.655000	0.94253	CCT		PASS	0.383	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			6	53	6	53	---	---	---	---
CSRNP3	80034	broad.mit.edu	37	2	166532891	166532891	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr2:166532891G>A	ENST00000342316.4	+	4	750	c.478G>A	c.(478-480)Gac>Aac	p.D160N	CSRNP3_ENST00000314499.7_Missense_Mutation_p.D160N|CSRNP3_ENST00000409420.1_Missense_Mutation_p.D192N	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	160					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D160N(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TTCTGATGATGACATTGACCT	0.423																																						uc002udf.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|skin(1)	5						c.(478-480)GAC>AAC		cysteine-serine-rich nuclear protein 3							221.0	224.0	223.0					2																	166532891		2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166532891G>A	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.478G>A	2.37:g.166532891G>A	ENSP00000344042:p.Asp160Asn					CSRNP3_uc002udg.2_Missense_Mutation_p.D160N	p.D160N	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN			6	854	+			160					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.478G>A	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	35	5.564732	0.96527	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.06092	-1.0846	10	0.72032	D	0.01	-26.4175	19.3504	0.94381	0.0:0.0:1.0:0.0	.	160	Q8WYN3	CSRN3_HUMAN	N	160;167;160;160;192	ENSP00000412081:D160N;ENSP00000318258:D160N;ENSP00000344042:D160N;ENSP00000387195:D192N	ENSP00000318258:D160N	D	+	1	0	CSRNP3	166241137	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	GAC		PASS	0.423	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		46	212	46	212	---	---	---	---
CHN1	1123	broad.mit.edu	37	2	175664914	175664914	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr2:175664914G>A	ENST00000409900.3	-	13	1623	c.1310C>T	c.(1309-1311)gCa>gTa	p.A437V	CHN1_ENST00000409156.3_Missense_Mutation_p.A411V|CHN1_ENST00000295497.7_Missense_Mutation_p.A312V|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409597.1_Missense_Mutation_p.A253V	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	437	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.A437V(1)|p.A312V(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			ATCATTCAATGCAGCCATGGC	0.403			T	TAF15	extraskeletal myxoid chondrosarcoma																																	uc002uji.2				Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1309-1311)GCA>GTA		chimerin (chimaerin) 1 isoform a							100.0	92.0	95.0					2																	175664914		1886	4119	6005	SO:0001583	missense	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr2:175664914G>A		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.1310C>T	2.37:g.175664914G>A	ENSP00000386741:p.Ala437Val					CHN1_uc010zeq.1_Missense_Mutation_p.A411V|CHN1_uc002ujj.2_Missense_Mutation_p.A212V|CHN1_uc002ujg.2_Missense_Mutation_p.A312V	p.A437V	NM_001822	NP_001813	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		13	1840	-			437			Rho-GAP.		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	c.1310C>T	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666403	0.67814	.	.	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	5.93	5.93	0.95920	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.089750	0.85682	D	0.000000	T	0.15478	0.0373	L	0.49513	1.565	0.80722	D	1	P;P;P	0.46064	0.797;0.554;0.872	B;B;B	0.43536	0.243;0.039;0.423	T	0.02581	-1.1138	10	0.22109	T	0.4	.	19.3193	0.94231	0.0:0.0:1.0:0.0	.	411;437;312	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	V	437;312;253;411	ENSP00000386741:A437V;ENSP00000295497:A312V;ENSP00000386469:A253V;ENSP00000386470:A411V	ENSP00000295497:A312V	A	-	2	0	CHN1	175373160	1.000000	0.71417	0.637000	0.29366	0.930000	0.56654	9.869000	0.99810	2.797000	0.96272	0.655000	0.94253	GCA		PASS	0.403	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		8	43	8	43	---	---	---	---
ZSWIM2	151112	broad.mit.edu	37	2	187709452	187709452	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr2:187709452T>A	ENST00000295131.2	-	3	314	c.275A>T	c.(274-276)aAc>aTc	p.N92I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	92					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N92I(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ACATTCATGGTTCCTTGGAAG	0.254																																						uc002upu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(274-276)AAC>ATC		zinc finger, SWIM domain containing 2							46.0	49.0	48.0					2																	187709452		2200	4289	6489	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187709452T>A	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.275A>T	2.37:g.187709452T>A	ENSP00000295131:p.Asn92Ile						p.N92I	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		3	315	-			92					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.275A>T	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	T	13.27	2.187097	0.38609	.	.	ENSG00000163012	ENST00000295131	T	0.24350	1.86	5.14	1.23	0.21249	.	0.324668	0.26792	N	0.022478	T	0.22282	0.0537	L	0.54323	1.7	0.32959	D	0.520793	B	0.27380	0.177	B	0.31495	0.131	T	0.17561	-1.0365	10	0.66056	D	0.02	-8.1963	5.5246	0.16951	0.0:0.1667:0.1473:0.686	.	92	Q8NEG5	ZSWM2_HUMAN	I	92	ENSP00000295131:N92I	ENSP00000295131:N92I	N	-	2	0	ZSWIM2	187417697	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	1.283000	0.33237	0.309000	0.22966	0.533000	0.62120	AAC		PASS	0.254	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		25	28	25	28	---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197087045	197087045	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr2:197087045G>T	ENST00000260983.3	-	24	4218	c.4036C>A	c.(4036-4038)Cta>Ata	p.L1346I	HECW2_ENST00000409111.1_Missense_Mutation_p.L990I	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1346	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L1346I(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGGTATTCTAGGTCACTCAGG	0.408																																						uc002utm.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(4036-4038)CTA>ATA		HECT, C2 and WW domain containing E3 ubiquitin							136.0	116.0	122.0					2																	197087045		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197087045G>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.4036C>A	2.37:g.197087045G>T	ENSP00000260983:p.Leu1346Ile					HECW2_uc002utl.1_Missense_Mutation_p.L990I	p.L1346I	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			24	4219	-			1346			HECT.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.4036C>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045539	0.75846	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.56611	0.45;0.45	5.12	5.12	0.69794	HECT (4);	0.000000	0.85682	D	0.000000	T	0.69314	0.3097	M	0.70275	2.135	0.58432	D	0.999997	D	0.59357	0.985	D	0.77004	0.989	T	0.71034	-0.4709	10	0.62326	D	0.03	.	11.677	0.51436	0.1267:0.0:0.8733:0.0	.	1346	Q9P2P5	HECW2_HUMAN	I	990;1346	ENSP00000386775:L990I;ENSP00000260983:L1346I	ENSP00000260983:L1346I	L	-	1	2	HECW2	196795290	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.143000	0.58051	2.653000	0.90120	0.561000	0.74099	CTA		PASS	0.408	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		5	68	5	68	---	---	---	---
NBEAL1	65065	broad.mit.edu	37	2	204032030	204032030	+	Missense_Mutation	SNP	C	C	T	rs267599164		TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr2:204032030C>T	ENST00000449802.1	+	37	6190	c.5857C>T	c.(5857-5859)Ctt>Ttt	p.L1953F		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1953								p.L1953F(1)|p.L663F(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AAGATCAGCCCTTGAGATTTT	0.363																																						uc002uzt.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(5857-5859)CTT>TTT		neurobeachin-like 1 isoform 3							125.0	114.0	117.0					2																	204032030		1806	4077	5883	SO:0001583	missense	65065						binding	g.chr2:204032030C>T	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5857C>T	2.37:g.204032030C>T	ENSP00000399903:p.Leu1953Phe					NBEAL1_uc002uzs.3_Missense_Mutation_p.L663F	p.L1953F	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN			37	6190	+			1953					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.5857C>T	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090344	0.76756	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.65549	-0.16	5.4	3.54	0.40534	PH-BEACH domain (1);	0.069090	0.64402	D	0.000015	T	0.66992	0.2846	M	0.86573	2.825	0.58432	D	0.999998	P;P	0.47191	0.891;0.891	P;P	0.44597	0.454;0.454	T	0.72623	-0.4237	10	0.87932	D	0	.	8.6363	0.33950	0.1352:0.7364:0.0:0.1284	.	1953;1942	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	F	1953	ENSP00000399903:L1953F	ENSP00000344985:L1953F	L	+	1	0	NBEAL1	203740275	0.980000	0.34600	1.000000	0.80357	0.992000	0.81027	1.507000	0.35758	1.382000	0.46385	0.563000	0.77884	CTT		PASS	0.363	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			16	51	16	51	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216247035	216247035	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr2:216247035C>T	ENST00000359671.1	-	31	5056	c.4791G>A	c.(4789-4791)atG>atA	p.M1597I	FN1_ENST00000323926.6_Missense_Mutation_p.M1688I|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000432072.2_Missense_Mutation_p.M1688I|FN1_ENST00000336916.4_Missense_Mutation_p.M1597I|FN1_ENST00000346544.3_Missense_Mutation_p.M1597I|FN1_ENST00000357009.2_Missense_Mutation_p.M1597I|FN1_ENST00000421182.1_Missense_Mutation_p.M1597I|FN1_ENST00000345488.5_Missense_Mutation_p.M1597I|FN1_ENST00000357867.4_Missense_Mutation_p.M1597I|FN1_ENST00000356005.4_Missense_Mutation_p.M1597I|FN1_ENST00000446046.1_Missense_Mutation_p.M1597I|FN1_ENST00000443816.1_Missense_Mutation_p.M1597I|FN1_ENST00000354785.4_Missense_Mutation_p.M1688I			P02751	FINC_HUMAN	fibronectin 1	1597	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.M1597I(1)|p.M1688I(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CTTCAATAGTCATTTCTGTTT	0.453																																						uc002vfa.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(5062-5064)ATG>ATA		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						81.0	71.0	74.0					2																	216247035		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216247035C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.4791G>A	2.37:g.216247035C>T	ENSP00000352696:p.Met1597Ile					FN1_uc002vfb.2_Missense_Mutation_p.M1597I|FN1_uc002vfc.2_Missense_Mutation_p.M1597I|FN1_uc002vfd.2_Missense_Mutation_p.M1688I|FN1_uc002vfe.2_Missense_Mutation_p.M1597I|FN1_uc002vff.2_Missense_Mutation_p.M1597I|FN1_uc002vfg.2_Missense_Mutation_p.M1597I|FN1_uc002vfh.2_Missense_Mutation_p.M1597I|FN1_uc002vfi.2_Missense_Mutation_p.M1688I|FN1_uc002vfj.2_Missense_Mutation_p.M1688I|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Missense_Mutation_p.M315I|FN1_uc010fvc.1_Missense_Mutation_p.M50I|FN1_uc010fvd.1_Missense_Mutation_p.M50I	p.M1688I	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	32	5330	-		Renal(323;0.127)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.5064G>A		.	.	.	.	.	.	.	.	.	.	C	11.42	1.633601	0.29068	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.91	5.91	0.95273	.	0.074301	0.56097	D	0.000021	T	0.47021	0.1423	N	0.05124	-0.11	0.19945	N	0.999947	B;P;B;B;B;B;B;B;B;P;P;B	0.46952	0.387;0.807;0.34;0.0;0.094;0.34;0.392;0.001;0.242;0.887;0.887;0.09	B;P;B;B;B;B;B;B;B;P;P;B	0.62184	0.374;0.899;0.257;0.007;0.054;0.257;0.374;0.01;0.098;0.899;0.899;0.041	T	0.42464	-0.9450	10	0.18710	T	0.47	.	12.1224	0.53900	0.126:0.7377:0.1363:0.0	.	1388;1597;1688;1688;1597;1597;1597;1597;1598;1597;1597;1688	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.;.	I	1597;1688;1597;1597;1688;1598;1597;1597;1597;1597;1597;1597;1688;1597;404	ENSP00000394423:M1597I;ENSP00000323534:M1688I;ENSP00000338200:M1597I;ENSP00000350534:M1597I;ENSP00000346839:M1688I;ENSP00000352696:M1597I;ENSP00000265312:M1597I;ENSP00000273049:M1597I;ENSP00000349509:M1597I;ENSP00000410422:M1597I;ENSP00000415018:M1597I;ENSP00000399538:M1688I;ENSP00000348285:M1597I;ENSP00000416139:M404I	ENSP00000265313:M1598I	M	-	3	0	FN1	215955280	0.891000	0.30450	1.000000	0.80357	0.983000	0.72400	0.006000	0.13152	2.793000	0.96121	0.655000	0.94253	ATG		PASS	0.453	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		6	35	6	35	---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234347023	234347023	+	Silent	SNP	C	C	A	rs370373545		TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr2:234347023C>A	ENST00000264057.2	+	9	1095	c.1083C>A	c.(1081-1083)ctC>ctA	p.L361L	DGKD_ENST00000409813.3_Silent_p.L317L	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	361	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.L361L(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GCCCACACCTCGGGTAGGAAG	0.413																																						uc002vui.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5						c.(1081-1083)CTC>CTA		diacylglycerol kinase, delta 130kDa isoform 2	Phosphatidylserine(DB00144)						65.0	73.0	70.0					2																	234347023		2203	4300	6503	SO:0001819	synonymous_variant	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234347023C>A	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.1083C>A	2.37:g.234347023C>A						DGKD_uc002vuj.1_Silent_p.L317L|DGKD_uc010fyh.1_Silent_p.L228L|DGKD_uc010fyi.1_RNA|DGKD_uc002vuk.1_Silent_p.L228L	p.L361L	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	9	1095	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	361			DAGKc.		Q14158|Q6PK55|Q8NG53	Silent	SNP	ENST00000264057.2	37	c.1083C>A	CCDS2504.1																																																																																				PASS	0.413	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		4	98	4	98	---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4817034	4817034	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr3:4817034G>T	ENST00000443694.2	+	44	6043	c.6043G>T	c.(6043-6045)Ggc>Tgc	p.G2015C	ITPR1_ENST00000423119.2_Missense_Mutation_p.G1982C|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.G2015C|ITPR1_ENST00000302640.8_Missense_Mutation_p.G2015C|ITPR1_ENST00000357086.4_Missense_Mutation_p.G1982C|ITPR1_ENST00000456211.2_Missense_Mutation_p.G1967C			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2030					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.G2015C(1)|p.G1982C(1)|p.G1967C(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TGGTCTTCTGGGCTTGTATAT	0.433																																						uc003bqa.2																			3	Substitution - Missense(3)	p.L1982L(1)	lung(3)	lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(5944-5946)GGC>TGC		inositol 1,4,5-triphosphate receptor, type 1							148.0	143.0	145.0					3																	4817034		1850	4091	5941	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4817034G>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6043G>T	3.37:g.4817034G>T	ENSP00000401671:p.Gly2015Cys					ITPR1_uc010hca.1_Missense_Mutation_p.G1967C|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.G952C	p.G1982C	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	44	6292	+			2030			Cytoplasmic (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.5944G>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304798	0.60305	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67;-3.67;-3.67	5.04	5.04	0.67666	RyR/IP3R Homology associated domain (1);	0.000000	0.85682	D	0.000000	D	0.97673	0.9237	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98186	1.0460	10	0.56958	D	0.05	.	18.4209	0.90590	0.0:0.0:1.0:0.0	.	2030;1982	Q14643;G5E9P1	ITPR1_HUMAN;.	C	2030;2015;2015;1982;476;1982;1967;2015	ENSP00000306253:G2015C;ENSP00000346595:G2015C;ENSP00000405934:G1982C;ENSP00000349597:G1982C;ENSP00000397885:G1967C;ENSP00000401671:G2015C	ENSP00000306253:G2015C	G	+	1	0	ITPR1	4792034	1.000000	0.71417	0.127000	0.21898	0.017000	0.09413	9.787000	0.99055	2.349000	0.79799	0.655000	0.94253	GGC		PASS	0.433	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		6	81	6	81	---	---	---	---
PRSS50	29122	broad.mit.edu	37	3	46785594	46785594	+	Intron	SNP	C	C	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr3:46785594C>T	ENST00000460241.1	-	4	1129				PRSS45_ENST00000442359.2_Silent_p.K50K			Q9UI38	TSP50_HUMAN	protease, serine, 50						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)	p.K50K(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						TGGGCTGCAGCTTGGAGGTGC	0.577																																					Pancreas(41;915 1239 11561 17469)	uc010hjl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(148-150)AAG>AAA		testis serine protease 5							31.0	35.0	34.0					3																	46785594		1977	4172	6149	SO:0001627	intron_variant	377047				proteolysis		serine-type endopeptidase activity	g.chr3:46785594C>T	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.541+4520G>A	3.37:g.46785594C>T						PRSS45_uc011bam.1_RNA	p.K50K	NM_199183	NP_954652	Q7RTY3	PRS45_HUMAN			2	150	-			50			Peptidase S1.			Silent	SNP	ENST00000460241.1	37	c.150G>A	CCDS2745.1																																																																																				PASS	0.577	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			4	4	4	4	---	---	---	---
MIR548I1	100302204	broad.mit.edu	37	3	125509278	125509278	+	lincRNA	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr3:125509278G>T	ENST00000610060.1	+	0	194				MIR548I1_ENST00000408810.1_RNA																							TTTGGTAGAAGGAGAAAAGAT	0.388																																						hsa-mir-548i-1|MI0006421																			0					0															113.0	120.0	118.0					3																	125509278		876	1985	2861			100302204							g.chr3:125509278G>T																													3.37:g.125509278G>T																-									RNA	SNP	ENST00000610060.1	37	c.118G>T																																																																																					PASS	0.388	RP11-379B18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000471880.1			6	77	6	77	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130282213	130282213	+	Silent	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr3:130282213C>A	ENST00000358511.6	+	2	397	c.366C>A	c.(364-366)ccC>ccA	p.P122P	COL6A6_ENST00000453409.2_Silent_p.P122P	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	122	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P122P(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCTCTGCACCCGCAAATGGGA	0.507																																						uc010htl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(364-366)CCC>CCA		collagen type VI alpha 6 precursor							40.0	39.0	39.0					3																	130282213		1874	4097	5971	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130282213C>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.366C>A	3.37:g.130282213C>A							p.P122P	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			2	397	+			122			Nonhelical region.|VWFA 1.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.366C>A	CCDS46911.1																																																																																				PASS	0.507	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		8	12	8	12	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134851709	134851709	+	Missense_Mutation	SNP	G	G	T	rs373296912		TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr3:134851709G>T	ENST00000398015.3	+	5	1485	c.1115G>T	c.(1114-1116)cGc>cTc	p.R372L	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	372	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.R372L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGCTGCTCCCGCTGTGACGAC	0.617																																						uc003eqt.2																			2	Substitution - Missense(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1114-1116)CGC>CTC		ephrin receptor EphB1 precursor							40.0	46.0	44.0					3																	134851709		2195	4295	6490	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134851709G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1115G>T	3.37:g.134851709G>T	ENSP00000381097:p.Arg372Leu					EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	p.R372L	NM_004441	NP_004432	P54762	EPHB1_HUMAN			5	1335	+			372			Extracellular (Potential).|Fibronectin type-III 1.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1115G>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678961	0.88542	.	.	ENSG00000154928	ENST00000398015	T	0.74106	-0.81	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.128026	0.53938	D	0.000051	T	0.76004	0.3927	M	0.67569	2.06	0.80722	D	1	P	0.38565	0.637	B	0.38712	0.28	T	0.78043	-0.2358	10	0.54805	T	0.06	.	19.4235	0.94732	0.0:0.0:1.0:0.0	.	372	P54762	EPHB1_HUMAN	L	372	ENSP00000381097:R372L	ENSP00000381097:R372L	R	+	2	0	EPHB1	136334399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.046000	0.71029	2.590000	0.87494	0.655000	0.94253	CGC		PASS	0.617	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		19	13	19	13	---	---	---	---
EIF2A	83939	broad.mit.edu	37	3	150301010	150301010	+	Silent	SNP	G	G	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr3:150301010G>A	ENST00000460851.1	+	13	1759	c.1650G>A	c.(1648-1650)ctG>ctA	p.L550L	EIF2A_ENST00000383043.3_Silent_p.L336L|EIF2A_ENST00000487799.1_Silent_p.L525L|EIF2A_ENST00000406576.3_Silent_p.L489L|EIF2A_ENST00000273435.5_Silent_p.L545L|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000482471.1_3'UTR|SERP1_ENST00000490945.1_Intron			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	550					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)	p.L525L(1)|p.L550L(1)		cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCGAACAACTGAAAGAACAAG	0.368																																						uc003eya.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1648-1650)CTG>CTA		eukaryotic translation initiation factor 2A							95.0	94.0	94.0					3																	150301010		1843	4087	5930	SO:0001819	synonymous_variant	83939				regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding	g.chr3:150301010G>A	AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.1650G>A	3.37:g.150301010G>A						SERP1_uc003exz.2_Intron|EIF2A_uc003eyb.2_Silent_p.L423L|EIF2A_uc003eyc.2_Silent_p.L423L|EIF2A_uc011bnv.1_Silent_p.L525L|EIF2A_uc011bnw.1_Silent_p.L489L|EIF2A_uc003eyd.2_Silent_p.L325L|uc003eye.1_Intron	p.L550L	NM_032025	NP_114414	Q9BY44	EIF2A_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		13	1666	+		Melanoma(1037;0.0575)	550			Potential.		A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Silent	SNP	ENST00000460851.1	37	c.1650G>A	CCDS46935.1																																																																																				PASS	0.368	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025		22	190	22	190	---	---	---	---
SI	6476	broad.mit.edu	37	3	164739162	164739162	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr3:164739162G>A	ENST00000264382.3	-	27	3171	c.3109C>T	c.(3109-3111)Ccc>Tcc	p.P1037S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1037	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.P1037S(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTCTTTTGGGGATCATAAATC	0.328										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3109-3111)CCC>TCC		sucrase-isomaltase	Acarbose(DB00284)						192.0	193.0	193.0					3																	164739162		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164739162G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3109C>T	3.37:g.164739162G>A	ENSP00000264382:p.Pro1037Ser	HNSCC(35;0.089)					p.P1037S	NM_001041	NP_001032	P14410	SUIS_HUMAN			27	3171	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1037			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3109C>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	6.617	0.482342	0.12581	.	.	ENSG00000090402	ENST00000264382	T	0.20598	2.06	4.58	-1.08	0.09936	Glycoside hydrolase-type carbohydrate-binding (1);	0.412561	0.25747	N	0.028574	T	0.19927	0.0479	M	0.66560	2.04	0.25748	N	0.985083	B	0.26902	0.163	B	0.24701	0.055	T	0.19484	-1.0304	10	0.46703	T	0.11	.	9.8745	0.41195	0.1541:0.4571:0.3888:0.0	.	1037	P14410	SUIS_HUMAN	S	1037	ENSP00000264382:P1037S	ENSP00000264382:P1037S	P	-	1	0	SI	166221856	0.020000	0.18652	0.318000	0.25279	0.284000	0.27059	0.036000	0.13819	-0.076000	0.12775	0.585000	0.79938	CCC		PASS	0.328	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		9	273	9	273	---	---	---	---
SI	6476	broad.mit.edu	37	3	164792369	164792369	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr3:164792369C>A	ENST00000264382.3	-	3	267	c.205G>T	c.(205-207)Gat>Tat	p.D69Y		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	69	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.D69Y(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTGACAGGATCATTTAACACA	0.343										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(205-207)GAT>TAT		sucrase-isomaltase	Acarbose(DB00284)						77.0	78.0	78.0					3																	164792369		2203	4298	6501	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164792369C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.205G>T	3.37:g.164792369C>A	ENSP00000264382:p.Asp69Tyr	HNSCC(35;0.089)					p.D69Y	NM_001041	NP_001032	P14410	SUIS_HUMAN			3	267	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	69			Lumenal.|P-type 1.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.205G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423768	0.43020	.	.	ENSG00000090402	ENST00000264382	D	0.89123	-2.47	5.18	3.37	0.38596	P-type trefoil (3);	0.473238	0.20299	N	0.095078	D	0.89308	0.6678	L	0.36672	1.1	0.09310	N	1	D	0.76494	0.999	D	0.68192	0.956	T	0.79752	-0.1671	10	0.40728	T	0.16	.	8.2662	0.31815	0.0:0.8103:0.0:0.1897	.	69	P14410	SUIS_HUMAN	Y	69	ENSP00000264382:D69Y	ENSP00000264382:D69Y	D	-	1	0	SI	166275063	0.093000	0.21703	0.040000	0.18447	0.011000	0.07611	1.355000	0.34068	1.191000	0.43056	0.585000	0.79938	GAT		PASS	0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		17	72	17	72	---	---	---	---
BCHE	590	broad.mit.edu	37	3	165504037	165504037	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr3:165504037T>C	ENST00000264381.3	-	3	1746	c.1580A>G	c.(1579-1581)aAa>aGa	p.K527R	BCHE_ENST00000540653.1_5'UTR	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	527					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.K527R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	GGTTAGATATTTTTGTTCAGT	0.333																																						uc003fem.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1579-1581)AAA>AGA		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						135.0	126.0	129.0					3																	165504037		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165504037T>C	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1580A>G	3.37:g.165504037T>C	ENSP00000264381:p.Lys527Arg					BCHE_uc003fen.3_RNA	p.K527R	NM_000055	NP_000046	P06276	CHLE_HUMAN			3	1740	-			527					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1580A>G	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.414277	0.25465	.	.	ENSG00000114200	ENST00000264381;ENST00000479451;ENST00000488954	D;D;D	0.95272	-3.66;-3.66;-3.66	5.48	3.07	0.35406	Carboxylesterase, type B (1);	0.265954	0.43416	N	0.000579	D	0.86222	0.5881	N	0.12569	0.235	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.76772	-0.2836	10	0.39692	T	0.17	.	7.6021	0.28081	0.0:0.0734:0.1416:0.7849	.	527	P06276	CHLE_HUMAN	R	527;57;57	ENSP00000264381:K527R;ENSP00000418325:K57R;ENSP00000418504:K57R	ENSP00000264381:K527R	K	-	2	0	BCHE	166986731	1.000000	0.71417	0.946000	0.38457	0.365000	0.29674	2.918000	0.48829	0.372000	0.24591	0.533000	0.62120	AAA		PASS	0.333	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			23	51	23	51	---	---	---	---
HTR3E	285242	broad.mit.edu	37	3	183818359	183818359	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr3:183818359A>C	ENST00000415389.2	+	2	620	c.154A>C	c.(154-156)Aag>Cag	p.K52Q	HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Missense_Mutation_p.K67Q|HTR3E_ENST00000335304.2_Missense_Mutation_p.K67Q|HTR3E_ENST00000425359.2_Missense_Mutation_p.K52Q|HTR3E_ENST00000440596.2_Missense_Mutation_p.K67Q	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	52					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.K67Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GTTTAATAGAAAGCCCTTCCG	0.537																																					Melanoma(7;227 727 6634 44770)	uc010hxq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(154-156)AAG>CAG		5-hydroxytryptamine receptor 3 subunit E							171.0	167.0	169.0					3																	183818359		2203	4300	6503	SO:0001583	missense	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183818359A>C	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.154A>C	3.37:g.183818359A>C	ENSP00000401444:p.Lys52Gln					HTR3E_uc003fml.3_Missense_Mutation_p.K52Q|HTR3E_uc003fmm.2_Missense_Mutation_p.K67Q|HTR3E_uc010hxr.2_Missense_Mutation_p.K67Q|HTR3E_uc003fmn.2_Missense_Mutation_p.K67Q	p.K52Q	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		2	620	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		52			Extracellular (Potential).		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	c.154A>C	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	a	15.04	2.715597	0.48622	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000436361;ENST00000440596	T;T;T;T;T	0.80994	-1.44;-1.3;-1.44;-1.3;-1.3	3.66	2.44	0.29823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.579476	0.13327	U	0.396247	D	0.87692	0.6241	M	0.83118	2.625	0.18873	N	0.999984	P;D;D;D;D	0.61697	0.883;0.986;0.99;0.99;0.983	P;P;D;P;P	0.66084	0.507;0.907;0.941;0.871;0.906	T	0.75929	-0.3144	10	0.54805	T	0.06	.	7.4993	0.27509	0.8896:0.0:0.1104:0.0	.	67;52;67;67;52	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	Q	52;52;67;67;67	ENSP00000401444:K52Q;ENSP00000401900:K52Q;ENSP00000335511:K67Q;ENSP00000395833:K67Q;ENSP00000406050:K67Q	ENSP00000335511:K67Q	K	+	1	0	HTR3E	185301053	1.000000	0.71417	0.056000	0.19401	0.032000	0.12392	2.155000	0.42301	0.534000	0.28695	0.533000	0.62120	AAG		PASS	0.537	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		37	305	37	305	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184045465	184045465	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr3:184045465G>T	ENST00000346169.2	+	25	4024	c.3753G>T	c.(3751-3753)gaG>gaT	p.E1251D	EIF4G1_ENST00000435046.2_Missense_Mutation_p.E1055D|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E1087D|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E1258D|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E1056D|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E1251D|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E1088D|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E1165D|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E1212D|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E1258D|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E1258D|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E1211D|EIF4G1_ENST00000342981.4_Missense_Mutation_p.E1252D|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E1164D	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1251	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.E1251D(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTATCATTGAGGAATATCTCC	0.562																																						uc003fnp.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(3751-3753)GAG>GAT		eukaryotic translation initiation factor 4							70.0	70.0	70.0					3																	184045465		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184045465G>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3753G>T	3.37:g.184045465G>T	ENSP00000316879:p.Glu1251Asp					EIF4G1_uc003fnt.2_Missense_Mutation_p.E962D|EIF4G1_uc003fnq.2_Missense_Mutation_p.E1164D|EIF4G1_uc003fnr.2_Missense_Mutation_p.E1087D|EIF4G1_uc010hxx.2_Missense_Mutation_p.E1258D|EIF4G1_uc003fns.2_Missense_Mutation_p.E1211D|EIF4G1_uc010hxy.2_Missense_Mutation_p.E1258D|EIF4G1_uc003fnv.3_Missense_Mutation_p.E1252D|EIF4G1_uc003fnu.3_Missense_Mutation_p.E1251D|EIF4G1_uc003fnw.2_Missense_Mutation_p.E1258D|EIF4G1_uc003fnx.2_Missense_Mutation_p.E1056D|EIF4G1_uc003fny.3_Missense_Mutation_p.E1055D|EIF4G1_uc003foa.2_5'Flank	p.E1251D	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		25	3951	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1251			MI.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.3753G>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265530	0.23136	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.2	-0.882	0.10604	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.097035	0.64402	D	0.000002	T	0.09992	0.0245	N	0.04880	-0.145	0.52501	D	0.999954	B;B;B	0.22851	0.013;0.076;0.076	B;B;B	0.25140	0.042;0.058;0.058	T	0.37220	-0.9715	10	0.02654	T	1	-11.7291	6.2863	0.21035	0.4004:0.1176:0.4821:0.0	.	1258;1252;1251	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	D	1251;1211;1164;1258;1087;1258;1165;1252;1251;1258;1212;1088;1056;1055	ENSP00000316879:E1251D;ENSP00000391935:E1211D;ENSP00000376320:E1164D;ENSP00000371767:E1258D;ENSP00000317600:E1087D;ENSP00000338020:E1258D;ENSP00000407682:E1165D;ENSP00000343450:E1252D;ENSP00000323737:E1251D;ENSP00000416255:E1258D;ENSP00000395974:E1212D;ENSP00000399858:E1088D;ENSP00000411826:E1056D;ENSP00000404754:E1055D	ENSP00000323737:E1251D	E	+	3	2	EIF4G1	185528159	1.000000	0.71417	0.862000	0.33874	0.950000	0.60333	1.324000	0.33712	-0.393000	0.07739	-0.140000	0.14226	GAG		PASS	0.562	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		7	176	7	176	---	---	---	---
MAGEF1	64110	broad.mit.edu	37	3	184429384	184429384	+	Silent	SNP	G	G	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr3:184429384G>A	ENST00000317897.3	-	1	452	c.226C>T	c.(226-228)Ctg>Ttg	p.L76L		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	76	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					extracellular vesicular exosome (GO:0070062)		p.L76L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			GTCCGATTCAGCCGGCGGTAG	0.642																																						uc003fpa.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(226-228)CTG>TTG		melanoma antigen family F, 1							70.0	79.0	76.0					3																	184429384		2203	4300	6503	SO:0001819	synonymous_variant	64110							g.chr3:184429384G>A	AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.226C>T	3.37:g.184429384G>A							p.L76L	NM_022149	NP_071432	Q9HAY2	MAGF1_HUMAN	Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)		1	453	-	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		76			MAGE.		Q9H215	Silent	SNP	ENST00000317897.3	37	c.226C>T	CCDS3269.1																																																																																				PASS	0.642	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345417.1	NM_022149		24	129	24	129	---	---	---	---
VPS8	23355	broad.mit.edu	37	3	184675210	184675210	+	Silent	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr3:184675210C>A	ENST00000437079.3	+	37	3255	c.3084C>A	c.(3082-3084)atC>atA	p.I1028I	VPS8_ENST00000446204.2_Silent_p.I936I|VPS8_ENST00000436792.2_Silent_p.I1026I|VPS8_ENST00000287546.4_Silent_p.I1028I	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1028							zinc ion binding (GO:0008270)	p.I1028I(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			CTCCTTGTATCACAGAGCAGT	0.373																																						uc003fpb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3076-3078)ATC>ATA		vacuolar protein sorting 8 homolog isoform b							89.0	83.0	85.0					3																	184675210		1875	4105	5980	SO:0001819	synonymous_variant	23355						zinc ion binding	g.chr3:184675210C>A	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3084C>A	3.37:g.184675210C>A						VPS8_uc010hyd.1_Silent_p.I936I|VPS8_uc010hye.1_Silent_p.I455I	p.I1026I	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		36	3249	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		1028					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Silent	SNP	ENST00000437079.3	37	c.3078C>A	CCDS46971.1																																																																																				PASS	0.373	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		8	65	8	65	---	---	---	---
LSG1	55341	broad.mit.edu	37	3	194366966	194366966	+	Missense_Mutation	SNP	C	C	A	rs542613557		TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr3:194366966C>A	ENST00000265245.5	-	12	1864	c.1550G>T	c.(1549-1551)cGa>cTa	p.R517L	AC046143.3_ENST00000447139.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	517					GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R517L(2)		breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CATGAATCCTCGCATGTCTGT	0.448																																						uc003fui.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1549-1551)CGA>CTA		large subunit GTPase 1							150.0	133.0	139.0					3																	194366966		2203	4300	6503	SO:0001583	missense	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194366966C>A		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.1550G>T	3.37:g.194366966C>A	ENSP00000265245:p.Arg517Leu						p.R517L	NM_018385	NP_060855	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	12	1865	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		517					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	ENST00000265245.5	37	c.1550G>T	CCDS33922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.405928|4.405928	0.83230|0.83230	.|.	.|.	ENSG00000041802|ENSG00000041802	ENST00000437613|ENST00000265245	.|T	.|0.22945	.|1.93	5.58|5.58	5.58|5.58	0.84498|0.84498	.|GTP-binding protein, orthogonal bundle domain (1);	.|0.047632	.|0.85682	.|D	.|0.000000	.|T	.|0.62612	.|0.2442	M|M	0.91972|0.91972	3.26|3.26	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	.|T	.|0.71080	.|-0.4696	.|10	.|0.87932	.|D	.|0	.|.	19.5831|19.5831	0.95478|0.95478	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|517	.|Q9H089	.|LSG1_HUMAN	X|L	234|517	.|ENSP00000265245:R517L	.|ENSP00000265245:R517L	E|R	-|-	1|2	0|0	LSG1|LSG1	195848255|195848255	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.324000|0.324000	0.28378|0.28378	7.783000|7.783000	0.85696|0.85696	2.641000|2.641000	0.89580|0.89580	0.563000|0.563000	0.77884|0.77884	GAG|CGA		PASS	0.448	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		5	197	5	197	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195484025	195484025	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr3:195484025G>T	ENST00000346145.4	-	17	2492	c.2453C>A	c.(2452-2454)tCc>tAc	p.S818Y	MUC4_ENST00000349607.4_Missense_Mutation_p.S767Y|MUC4_ENST00000463781.3_Missense_Mutation_p.S5054Y|MUC4_ENST00000475231.1_Missense_Mutation_p.S5002Y	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1811	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S5054Y(1)|p.S4926Y(1)|p.S818Y(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACCTCCAGGGAGGAGTTGCC	0.572																																						uc011bto.1																			3	Substitution - Missense(3)		lung(3)		0						c.(14776-14778)TCC>TAC		mucin 4 isoform a							97.0	88.0	91.0					3																	195484025		2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195484025G>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2453C>A	3.37:g.195484025G>T	ENSP00000304207:p.Ser818Tyr					MUC4_uc003fuz.2_Missense_Mutation_p.S652Y|MUC4_uc003fva.2_Missense_Mutation_p.S534Y|MUC4_uc003fvb.2_Missense_Mutation_p.S570Y|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.S570Y|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.S534Y|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.S618Y|MUC4_uc011bti.1_Missense_Mutation_p.S618Y|MUC4_uc011btj.1_Missense_Mutation_p.S795Y|MUC4_uc011btk.1_Missense_Mutation_p.S534Y|MUC4_uc011btl.1_Missense_Mutation_p.S563Y|MUC4_uc011btm.1_Missense_Mutation_p.S743Y|MUC4_uc011btn.1_Missense_Mutation_p.S534Y|MUC4_uc003fvo.2_Missense_Mutation_p.S818Y|MUC4_uc003fvp.2_Missense_Mutation_p.S767Y	p.S4926Y	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	19	15237	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1811					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.14777C>A	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	12.82	2.053547	0.36277	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.39787	1.06;1.42;1.34;1.38	5.17	5.17	0.71159	.	0.000000	0.53938	D	0.000047	T	0.63319	0.2501	M	0.70275	2.135	0.31127	N	0.70819	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.994;0.994;0.994;0.997;0.997;0.995	T	0.68655	-0.5351	10	0.87932	D	0	-25.161	14.192	0.65644	0.0:0.0:1.0:0.0	.	4926;767;818;5054;5002;1759	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	Y	767;818;5054;5002;1554	ENSP00000338109:S767Y;ENSP00000304207:S818Y;ENSP00000417498:S5054Y;ENSP00000420243:S5002Y	ENSP00000304207:S818Y	S	-	2	0	MUC4	196969696	1.000000	0.71417	0.985000	0.45067	0.463000	0.32649	4.787000	0.62432	2.403000	0.81681	0.556000	0.70494	TCC		PASS	0.572	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		7	184	7	184	---	---	---	---
UBXN7	26043	broad.mit.edu	37	3	196083658	196083658	+	Silent	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr3:196083658G>T	ENST00000296328.4	-	11	1442	c.1368C>A	c.(1366-1368)acC>acA	p.T456T	UBXN7_ENST00000428095.1_Silent_p.T294T|UBXN7_ENST00000535858.1_Silent_p.T308T	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	456	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.T456T(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GAGGAAAGTTGGTGAGAAGTT	0.393																																						uc003fwm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1366-1368)ACC>ACA		UBX domain containing 7							142.0	130.0	134.0					3																	196083658		1866	4098	5964	SO:0001819	synonymous_variant	26043						protein binding	g.chr3:196083658G>T	AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.1368C>A	3.37:g.196083658G>T						UBXN7_uc003fwn.3_Silent_p.T308T|UBXN7_uc010iae.2_Silent_p.T294T	p.T456T	NM_015562	NP_056377	O94888	UBXN7_HUMAN			11	1443	-			456			UBX.		D3DXB3|Q6ZP77|Q86X20|Q8N327	Silent	SNP	ENST00000296328.4	37	c.1368C>A	CCDS43191.1																																																																																				PASS	0.393	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		6	130	6	130	---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2696737	2696737	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr4:2696737G>A	ENST00000324666.5	+	15	2635	c.2284G>A	c.(2284-2286)Gac>Aac	p.D762N	FAM193A_ENST00000502458.1_Missense_Mutation_p.D784N|FAM193A_ENST00000545951.1_Missense_Mutation_p.D762N|FAM193A_ENST00000505311.1_Missense_Mutation_p.D762N|FAM193A_ENST00000382839.3_Missense_Mutation_p.D762N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	762								p.D762N(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGATGATGGGGACGAGAGTGC	0.587																																						uc010icl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2284-2286)GAC>AAC		hypothetical protein LOC8603							86.0	63.0	71.0					4																	2696737		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2696737G>A	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2284G>A	4.37:g.2696737G>A	ENSP00000324587:p.Asp762Asn					FAM193A_uc010ick.2_Missense_Mutation_p.D962N|FAM193A_uc003gfd.2_Missense_Mutation_p.D762N|FAM193A_uc011bvm.1_Missense_Mutation_p.D784N|FAM193A_uc011bvn.1_Missense_Mutation_p.D762N|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.D616N	p.D762N	NM_003704	NP_003695	P78312	F193A_HUMAN			15	2635	+			762					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.2284G>A	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029332	0.93518	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	5.56	5.56	0.83823	.	0.047074	0.85682	D	0.000000	T	0.79417	0.4442	L	0.43923	1.385	0.54753	D	0.999984	P;P;P;P;P	0.49559	0.925;0.925;0.925;0.868;0.868	P;P;P;P;P	0.49752	0.526;0.526;0.621;0.526;0.526	T	0.80845	-0.1200	10	0.59425	D	0.04	-22.6767	18.5241	0.90965	0.0:0.0:1.0:0.0	.	762;784;762;784;762	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	N	762;762;762;784;616	ENSP00000372290:D762N;ENSP00000324587:D762N;ENSP00000443617:D762N;ENSP00000427505:D784N;ENSP00000427260:D616N	ENSP00000324587:D762N	D	+	1	0	FAM193A	2666535	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	9.662000	0.98603	2.609000	0.88269	0.655000	0.94253	GAC		PASS	0.587	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		4	7	4	7	---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5578179	5578179	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr4:5578179C>G	ENST00000344408.5	-	18	3113	c.3060G>C	c.(3058-3060)gaG>gaC	p.E1020D	EVC2_ENST00000310917.2_Missense_Mutation_p.E940D|EVC2_ENST00000344938.1_Missense_Mutation_p.E1020D	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1020					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E1020D(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						ACTCCTGGAGCTCCTACACAA	0.627																																						uc003gij.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)	5						c.(3058-3060)GAG>GAC		limbin							17.0	15.0	16.0					4																	5578179		2198	4298	6496	SO:0001583	missense	132884					integral to membrane		g.chr4:5578179C>G	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3060G>C	4.37:g.5578179C>G	ENSP00000342144:p.Glu1020Asp					EVC2_uc011bwb.1_Missense_Mutation_p.E460D|EVC2_uc003gik.2_Missense_Mutation_p.E940D	p.E1020D	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			18	3114	-			1020			Potential.		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.3060G>C	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607342	0.46527	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.75938	-0.98;-0.98;-0.98	5.26	2.53	0.30540	.	0.484707	0.21091	N	0.080318	T	0.70334	0.3212	L	0.34521	1.04	0.32867	D	0.508699	D	0.76494	0.999	P	0.61070	0.883	T	0.69924	-0.5013	10	0.26408	T	0.33	-17.6787	4.0519	0.09800	0.1876:0.6197:0.0:0.1927	.	1020	Q86UK5	LBN_HUMAN	D	1020;940;1020	ENSP00000339954:E1020D;ENSP00000311683:E940D;ENSP00000342144:E1020D	ENSP00000311683:E940D	E	-	3	2	EVC2	5629080	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	1.197000	0.32211	0.585000	0.29608	0.491000	0.48974	GAG		PASS	0.627	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		4	2	4	2	---	---	---	---
BEND4	389206	broad.mit.edu	37	4	42145969	42145969	+	Missense_Mutation	SNP	C	C	G	rs200539776		TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr4:42145969C>G	ENST00000502486.1	-	3	1109	c.530G>C	c.(529-531)cGa>cCa	p.R177P	BEND4_ENST00000504360.1_Missense_Mutation_p.R173P	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	177								p.R173P(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GCTAAGAACTCGACTGCACTG	0.438																																						uc003gwn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(529-531)CGA>CCA		BEN domain containing 4 isoform a							42.0	39.0	40.0					4																	42145969		1929	4134	6063	SO:0001583	missense	389206							g.chr4:42145969C>G	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.530G>C	4.37:g.42145969C>G	ENSP00000421169:p.Arg177Pro					BEND4_uc003gwm.2_Missense_Mutation_p.R177P|BEND4_uc011byy.1_Missense_Mutation_p.R177P	p.R177P	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN			3	1110	-			177					A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	ENST00000502486.1	37	c.530G>C	CCDS47048.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674843	0.67928	.	.	ENSG00000188848	ENST00000411720;ENST00000502486;ENST00000504360	.	.	.	5.72	5.72	0.89469	.	0.141721	0.48767	D	0.000179	T	0.73071	0.3540	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.74990	-0.3475	9	0.87932	D	0	-5.7676	19.8965	0.96963	0.0:1.0:0.0:0.0	.	99;177;177	Q6ZU67-3;Q6ZU67;Q6ZU67-2	.;BEND4_HUMAN;.	P	48;177;173	.	ENSP00000412495:R48P	R	-	2	0	BEND4	41840726	1.000000	0.71417	0.993000	0.49108	0.247000	0.25773	7.487000	0.81328	2.717000	0.92951	0.655000	0.94253	CGA		PASS	0.438	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406		18	6	18	6	---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48566052	48566052	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr4:48566052A>G	ENST00000503238.1	-	28	3508	c.3509T>C	c.(3508-3510)aTg>aCg	p.M1170T	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.M1170T|FRYL_ENST00000537810.1_Missense_Mutation_p.M1170T|FRYL_ENST00000358350.4_Missense_Mutation_p.M1170T			O94915	FRYL_HUMAN	FRY-like	1170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.M1170T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGCCCAGTACATCAGGTTGCT	0.527																																						uc003gyh.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3508-3510)ATG>ACG		furry-like							64.0	69.0	67.0					4																	48566052		1996	4172	6168	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48566052A>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.3509T>C	4.37:g.48566052A>G	ENSP00000426064:p.Met1170Thr					FRYL_uc003gyk.2_Missense_Mutation_p.M1170T|FRYL_uc003gyi.1_Missense_Mutation_p.M59T	p.M1170T	NM_015030	NP_055845	O94915	FRYL_HUMAN			31	4114	-			1170					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.3509T>C	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.293181	0.80914	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.04809	3.55;3.55;3.55;3.56	5.38	5.38	0.77491	Armadillo-type fold (1);	0.119294	0.85682	D	0.000000	T	0.11879	0.0289	L	0.36672	1.1	0.80722	D	1	B;P;P	0.52463	0.369;0.94;0.953	B;P;P	0.57502	0.12;0.822;0.701	T	0.01298	-1.1392	10	0.72032	D	0.01	.	15.6806	0.77364	1.0:0.0:0.0:0.0	.	1170;1;1170	F2Z2S2;Q6ZR29;O94915	.;.;FRYL_HUMAN	T	1170	ENSP00000426064:M1170T;ENSP00000351113:M1170T;ENSP00000441114:M1170T;ENSP00000421584:M1170T	ENSP00000351113:M1170T	M	-	2	0	FRYL	48260809	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.225000	0.95219	2.149000	0.67028	0.533000	0.62120	ATG		PASS	0.527	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			9	63	9	63	---	---	---	---
PPEF2	5470	broad.mit.edu	37	4	76805858	76805858	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr4:76805858C>A	ENST00000286719.7	-	8	991	c.635G>T	c.(634-636)cGa>cTa	p.R212L		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	212	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.R212L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATCCTTGCCTCGATCCACAAA	0.458																																					NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(634-636)CGA>CTA		serine/threonine protein phosphatase with							218.0	204.0	209.0					4																	76805858		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76805858C>A	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.635G>T	4.37:g.76805858C>A	ENSP00000286719:p.Arg212Leu					PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.R212L	p.R212L	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		8	992	-			212			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.635G>T	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668993	0.88348	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.14144	2.53	4.84	4.84	0.62591	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	H	0.96365	3.81	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67581	-0.5634	10	0.87932	D	0	-9.8009	15.5116	0.75786	0.0:1.0:0.0:0.0	.	212;212	O14830-2;O14830	.;PPE2_HUMAN	L	212	ENSP00000286719:R212L	ENSP00000286719:R212L	R	-	2	0	PPEF2	77024882	1.000000	0.71417	0.999000	0.59377	0.807000	0.45602	7.000000	0.76290	2.512000	0.84698	0.655000	0.94253	CGA		PASS	0.458	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		5	176	5	176	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114251433	114251433	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr4:114251433G>A	ENST00000357077.4	+	27	2985	c.2932G>A	c.(2932-2934)Ggt>Agt	p.G978S	ANK2_ENST00000394537.3_Missense_Mutation_p.G978S|ANK2_ENST00000264366.6_Missense_Mutation_p.G978S|ANK2_ENST00000509550.1_Missense_Mutation_p.G187S|ANK2_ENST00000506722.1_Missense_Mutation_p.G969S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	978	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.G978S(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGATGCCCGAGGTGGTGCTAT	0.448																																						uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(2932-2934)GGT>AGT		ankyrin 2 isoform 1							58.0	57.0	57.0					4																	114251433		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114251433G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2932G>A	4.37:g.114251433G>A	ENSP00000349588:p.Gly978Ser					ANK2_uc003ibd.3_Missense_Mutation_p.G969S|ANK2_uc003ibf.3_Missense_Mutation_p.G978S|ANK2_uc011cgc.1_Missense_Mutation_p.G187S|ANK2_uc003ibg.3_Missense_Mutation_p.G6S|ANK2_uc003ibc.2_Missense_Mutation_p.G954S|ANK2_uc011cgb.1_Missense_Mutation_p.G993S	p.G978S	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	27	3032	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	978			ZU5.|Interaction with SPTBN1.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.2932G>A	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.732096|5.732096	0.96856|0.96856	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550|ENST00000514960	T;T;T;T;T;T;T;T|T	0.66280|0.46451	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2|0.87	5.93|5.93	5.93|5.93	0.95920|0.95920	ZU5 (3);|.	0.000000|.	0.56097|.	D|.	0.000024|.	T|T	0.53965|0.53965	0.1829|0.1829	L|L	0.41236|0.41236	1.265|1.265	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;0.998;1.0|.	D;D;D;D;D;D;D|.	0.87578|.	0.998;0.998;0.996;0.992;0.997;0.942;0.996|.	T|T	0.52041|0.52041	-0.8628|-0.8628	10|7	0.72032|0.87932	D|D	0.01|0	.|.	20.3437|20.3437	0.98782|0.98782	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	187;978;23;978;978;969;969|.	E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9|.	.;ANK2_HUMAN;.;.;.;.;.|.	S|K	957;924;969;57;993;978;978;978;969;187|23	ENSP00000423799:G957S;ENSP00000421011:G924S;ENSP00000421067:G969S;ENSP00000424722:G993S;ENSP00000378044:G978S;ENSP00000349588:G978S;ENSP00000264366:G978S;ENSP00000426944:G187S|ENSP00000422853:R23K	ENSP00000264366:G978S|ENSP00000422853:R23K	G|R	+|+	1|2	0|0	ANK2|ANK2	114470882|114470882	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.985000|0.985000	0.73830|0.73830	9.864000|9.864000	0.99589|0.99589	2.802000|2.802000	0.96397|0.96397	0.563000|0.563000	0.77884|0.77884	GGT|AGG		PASS	0.448	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		9	9	9	9	---	---	---	---
RAPGEF2	9693	broad.mit.edu	37	4	160274672	160274672	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr4:160274672A>T	ENST00000264431.4	+	22	4061	c.3642A>T	c.(3640-3642)ttA>ttT	p.L1214F		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1214					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.L1202F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GCCGAGGCTTATATGCTACAG	0.443																																						uc003iqg.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(3640-3642)TTA>TTT		Rap guanine nucleotide exchange factor 2							75.0	74.0	74.0					4																	160274672		1949	4151	6100	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160274672A>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3642A>T	4.37:g.160274672A>T	ENSP00000264431:p.Leu1214Phe						p.L1214F	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	22	3952	+	all_hematologic(180;0.24)		1214					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.3642A>T	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.76|15.76	2.927436|2.927436	0.52759|0.52759	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000505026|ENST00000264431	.|T	.|0.42131	.|0.98	5.8|5.8	-2.34|-2.34	0.06704|0.06704	.|.	.|0.068861	.|0.56097	.|D	.|0.000030	T|T	0.32556|0.32556	0.0833|0.0833	L|L	0.50333|0.50333	1.59|1.59	0.44587|0.44587	D|D	0.997559|0.997559	.|P	.|0.36465	.|0.554	.|B	.|0.35182	.|0.197	T|T	0.14062|0.14062	-1.0486|-1.0486	5|10	.|0.56958	.|D	.|0.05	.|.	11.3299|11.3299	0.49470|0.49470	0.2071:0.1221:0.6708:0.0|0.2071:0.1221:0.6708:0.0	.|.	.|1214	.|Q9Y4G8	.|RPGF2_HUMAN	L|F	149|1214	.|ENSP00000264431:L1214F	.|ENSP00000264431:L1214F	I|L	+|+	1|3	0|2	RAPGEF2|RAPGEF2	160494122|160494122	0.992000|0.992000	0.36948|0.36948	0.954000|0.954000	0.39281|0.39281	0.764000|0.764000	0.43329|0.43329	0.216000|0.216000	0.17585|0.17585	-0.385000|-0.385000	0.07833|0.07833	0.528000|0.528000	0.53228|0.53228	ATA|TTA		PASS	0.443	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		24	26	24	26	---	---	---	---
KLHL2	11275	broad.mit.edu	37	4	166215563	166215563	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr4:166215563C>G	ENST00000226725.6	+	6	856	c.597C>G	c.(595-597)atC>atG	p.I199M	KLHL2_ENST00000514860.1_Missense_Mutation_p.I203M|KLHL2_ENST00000538127.1_Missense_Mutation_p.I111M|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000421009.2_Missense_Mutation_p.I102M|KLHL2_ENST00000506761.1_Missense_Mutation_p.I33M	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	199					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.I199M(1)		endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		ATCTTGGCATCGAACAAGTGT	0.353																																						uc003irb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(595-597)ATC>ATG		kelch-like 2, Mayven isoform 1							114.0	108.0	110.0					4																	166215563		2203	4300	6503	SO:0001583	missense	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166215563C>G	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.597C>G	4.37:g.166215563C>G	ENSP00000226725:p.Ile199Met					KLHL2_uc011cjm.1_Missense_Mutation_p.I203M|KLHL2_uc003irc.2_Missense_Mutation_p.I111M|KLHL2_uc010ira.2_Translation_Start_Site	p.I199M	NM_007246	NP_009177	O95198	KLHL2_HUMAN		GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)	6	856	+	all_hematologic(180;0.221)		199					A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	ENST00000226725.6	37	c.597C>G	CCDS34094.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072390	0.36566	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.89	-5.5	0.02576	BTB/Kelch-associated (2);	0.083932	0.85682	D	0.000000	T	0.42337	0.1198	N	0.21545	0.675	0.41847	D	0.990158	B;B	0.14012	0.009;0.009	B;B	0.20577	0.03;0.018	T	0.01015	-1.1480	10	0.34782	T	0.22	.	7.078	0.25215	0.2355:0.3931:0.0:0.3714	.	203;199	B4DFH7;O95198	.;KLHL2_HUMAN	M	199;203;111;102;33	ENSP00000226725:I199M;ENSP00000424198:I203M;ENSP00000437526:I111M;ENSP00000408974:I102M;ENSP00000424108:I33M	ENSP00000226725:I199M	I	+	3	3	KLHL2	166435013	0.762000	0.28451	0.666000	0.29783	0.889000	0.51656	-0.076000	0.11412	-1.171000	0.02765	-0.238000	0.12139	ATC		PASS	0.353	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1			4	15	4	15	---	---	---	---
GLRA3	8001	broad.mit.edu	37	4	175598344	175598344	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr4:175598344G>T	ENST00000274093.3	-	7	1314	c.812C>A	c.(811-813)tCc>tAc	p.S271Y	GLRA3_ENST00000340217.5_Missense_Mutation_p.S271Y	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	271					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.S271Y(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TGAAACCCAGGATAGAATAAC	0.468																																						uc003ity.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(811-813)TCC>TAC		glycine receptor, alpha 3 isoform a	Glycine(DB00145)						115.0	104.0	108.0					4																	175598344		2203	4300	6503	SO:0001583	missense	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175598344G>T	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.812C>A	4.37:g.175598344G>T	ENSP00000274093:p.Ser271Tyr					GLRA3_uc003itz.1_Missense_Mutation_p.S271Y	p.S271Y	NM_006529	NP_006520	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	7	1315	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	271			Helical; (Probable).		D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	c.812C>A	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093876	0.94149	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	D;D	0.88975	-2.45;-2.45	5.56	5.56	0.83823	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95934	0.8676	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96443	0.9328	10	0.87932	D	0	.	19.5178	0.95171	0.0:0.0:1.0:0.0	.	271;271	O75311-2;O75311	.;GLRA3_HUMAN	Y	271	ENSP00000274093:S271Y;ENSP00000345284:S271Y	ENSP00000274093:S271Y	S	-	2	0	GLRA3	175834919	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	9.718000	0.98758	2.611000	0.88343	0.655000	0.94253	TCC		PASS	0.468	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			4	19	4	19	---	---	---	---
ASB5	140458	broad.mit.edu	37	4	177136878	177136878	+	Splice_Site	SNP	G	G	C			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr4:177136878G>C	ENST00000296525.3	-	7	976	c.863C>G	c.(862-864)gCt>gGt	p.A288G	ASB5_ENST00000512254.1_Splice_Site_p.A235G	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	288	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.A288G(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GCTTGGGGTAGCTACAAGAAG	0.353																																						uc003iuq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(862-864)GCT>GGT		ankyrin repeat and SOCS box-containing protein							91.0	88.0	89.0					4																	177136878		2203	4300	6503	SO:0001630	splice_region_variant	140458				intracellular signal transduction			g.chr4:177136878G>C	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.863-1C>G	4.37:g.177136878G>C						ASB5_uc003iup.1_Missense_Mutation_p.A235G	p.A288G	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	7	879	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	288			SOCS box.		Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.863C>G	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	G	8.161	0.789476	0.16258	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.28069	1.63;1.63	5.16	5.16	0.70880	SOCS protein, C-terminal (1);Ankyrin repeat-containing domain (1);	0.101195	0.64402	D	0.000002	T	0.37183	0.0994	L	0.56396	1.775	0.80722	D	1	B;P	0.35923	0.121;0.528	B;B	0.39935	0.111;0.314	T	0.10941	-1.0608	10	0.30854	T	0.27	.	18.6501	0.91428	0.0:0.0:1.0:0.0	.	288;235	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	G	288;235	ENSP00000296525:A288G;ENSP00000422877:A235G	ENSP00000296525:A288G	A	-	2	0	ASB5	177373872	1.000000	0.71417	0.657000	0.29651	0.880000	0.50808	5.047000	0.64232	2.392000	0.81423	0.591000	0.81541	GCT		PASS	0.353	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1		Missense_Mutation	8	19	8	19	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187630181	187630181	+	Silent	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr4:187630181C>A	ENST00000441802.2	-	2	1010	c.801G>T	c.(799-801)ctG>ctT	p.L267L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	267					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L267L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGTCCCTGTCCAGTTCTGATG	0.522										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(799-801)CTG>CTT		FAT tumor suppressor 1 precursor							211.0	210.0	211.0					4																	187630181		2169	4273	6442	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187630181C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.801G>T	4.37:g.187630181C>A		HNSCC(5;0.00058)				FAT1_uc010iso.1_Silent_p.L267L	p.L267L	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	989	-			267			Extracellular (Potential).			Silent	SNP	ENST00000441802.2	37	c.801G>T	CCDS47177.1																																																																																				PASS	0.522	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		7	262	7	262	---	---	---	---
ICE1	23379	broad.mit.edu	37	5	5463104	5463104	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr5:5463104C>A	ENST00000296564.7	+	13	3879	c.3657C>A	c.(3655-3657)taC>taA	p.Y1219*		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1219					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.Y1219*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAGAAAAATACAGAAAGCAAC	0.363																																						uc003jdm.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3655-3657)TAC>TAA		hypothetical protein LOC23379							52.0	50.0	51.0					5																	5463104		1832	4082	5914	SO:0001587	stop_gained	23379							g.chr5:5463104C>A																												ENST00000296564.7:c.3657C>A	5.37:g.5463104C>A	ENSP00000296564:p.Tyr1219*						p.Y1219*	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	3879	+			1219					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Nonsense_Mutation	SNP	ENST00000296564.7	37	c.3657C>A	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	40	8.159602	0.98683	.	.	ENSG00000164151	ENST00000296564	.	.	.	4.45	-4.17	0.03857	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	2.002	5.4011	0.16297	0.0:0.1922:0.309:0.4989	.	.	.	.	X	1219	.	ENSP00000296564:Y1219X	Y	+	3	2	KIAA0947	5516104	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-0.716000	0.04991	-0.407000	0.07576	-0.680000	0.03767	TAC		PASS	0.363	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			4	51	4	51	---	---	---	---
PRLR	5618	broad.mit.edu	37	5	35065919	35065919	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr5:35065919C>T	ENST00000382002.5	-	10	1567	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000511486.1_Missense_Mutation_p.E280K|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.E280K	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	381					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.E381K(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	TCTGGCTTCTCAATGACCTCA	0.517																																						uc003jjm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1141-1143)GAG>AAG		prolactin receptor precursor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						98.0	107.0	104.0					5																	35065919		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065919C>T		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1141G>A	5.37:g.35065919C>T	ENSP00000371432:p.Glu381Lys					PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Missense_Mutation_p.E280K	p.E381K	NM_000949	NP_000940	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	1671	-	all_lung(31;3.83e-05)		381			Cytoplasmic (Potential).		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.1141G>A	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.230302	0.39399	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	T;T;T	0.78003	-1.14;-1.14;-1.14	5.84	4.98	0.66077	.	0.357378	0.35495	N	0.003179	T	0.80314	0.4600	M	0.81682	2.555	0.09310	N	0.999995	B;B	0.20988	0.05;0.018	B;B	0.29353	0.101;0.075	T	0.70857	-0.4758	10	0.40728	T	0.16	-18.7322	15.2488	0.73526	0.0:0.9323:0.0:0.0677	.	381;280	P16471;P16471-2	PRLR_HUMAN;.	K	280;381;280	ENSP00000339213:E280K;ENSP00000371432:E381K;ENSP00000422556:E280K	ENSP00000339213:E280K	E	-	1	0	PRLR	35101676	0.043000	0.20138	0.347000	0.25668	0.771000	0.43674	1.847000	0.39299	1.478000	0.48253	0.563000	0.77884	GAG		PASS	0.517	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			18	51	18	51	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45262556	45262556	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr5:45262556C>A	ENST00000303230.4	-	8	2197	c.2140G>T	c.(2140-2142)Gct>Tct	p.A714S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	714					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.A714S(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AAAGTTCGAGCGGCCAGAGGG	0.652																																						uc003jok.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2140-2142)GCT>TCT		hyperpolarization activated cyclic							46.0	45.0	45.0					5																	45262556		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262556C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2140G>T	5.37:g.45262556C>A	ENSP00000307342:p.Ala714Ser						p.A714S	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2165	-			714			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.2140G>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	4.807	0.150099	0.09185	.	.	ENSG00000164588	ENST00000303230	T	0.79352	-1.26	5.52	-4.99	0.03010	.	0.663225	0.13859	N	0.357771	T	0.47173	0.1431	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48445	-0.9035	10	0.06494	T	0.89	.	8.2412	0.31660	0.2645:0.5814:0.0:0.154	.	714	O60741	HCN1_HUMAN	S	714	ENSP00000307342:A714S	ENSP00000307342:A714S	A	-	1	0	HCN1	45298313	0.004000	0.15560	0.389000	0.26208	0.792000	0.44763	-0.112000	0.10791	-0.830000	0.04262	-1.261000	0.01458	GCT		PASS	0.652	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		6	16	6	16	---	---	---	---
SNX18	112574	broad.mit.edu	37	5	53814757	53814757	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr5:53814757G>C	ENST00000326277.3	+	1	1165	c.975G>C	c.(973-975)gaG>gaC	p.E325D	SNX18_ENST00000343017.6_Missense_Mutation_p.E325D|SNX18_ENST00000381410.4_Missense_Mutation_p.E325D	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	325	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.E325D(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GCCTGGCGGAGAAGTTCCCGG	0.632																																						uc003jpj.3																			2	Substitution - Missense(2)		lung(2)		0						c.(973-975)GAG>GAC		sorting nexin 18 isoform b							35.0	36.0	35.0					5																	53814757		2203	4300	6503	SO:0001583	missense	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53814757G>C	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.975G>C	5.37:g.53814757G>C	ENSP00000317332:p.Glu325Asp					SNX18_uc011cqg.1_Missense_Mutation_p.E325D|SNX18_uc003jpi.3_Missense_Mutation_p.E325D	p.E325D	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN			1	1165	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	325			PX.		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000326277.3	37	c.975G>C	CCDS3962.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115104	0.37339	.	.	ENSG00000178996	ENST00000343017;ENST00000381410;ENST00000326277	T;T;T	0.41758	0.99;0.99;0.99	4.8	3.02	0.34903	Phox homologous domain (5);	0.056898	0.64402	D	0.000002	T	0.25791	0.0628	L	0.27975	0.815	0.47441	D	0.99942	B;B	0.25235	0.121;0.007	B;B	0.26416	0.069;0.007	T	0.04752	-1.0929	10	0.25751	T	0.34	-32.3168	6.0673	0.19870	0.1561:0.0:0.6932:0.1507	.	325;325	Q96RF0;Q96RF0-2	SNX18_HUMAN;.	D	325	ENSP00000342276:E325D;ENSP00000370817:E325D;ENSP00000317332:E325D	ENSP00000317332:E325D	E	+	3	2	SNX18	53850514	1.000000	0.71417	0.999000	0.59377	0.846000	0.48090	3.834000	0.55798	0.632000	0.30432	0.557000	0.71058	GAG		PASS	0.632	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			6	16	6	16	---	---	---	---
SNX18	112574	broad.mit.edu	37	5	53814938	53814938	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr5:53814938G>T	ENST00000326277.3	+	1	1346	c.1156G>T	c.(1156-1158)Gac>Tac	p.D386Y	SNX18_ENST00000343017.6_Missense_Mutation_p.D386Y|SNX18_ENST00000381410.4_Missense_Mutation_p.D386Y	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	386	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.D386Y(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CAGCAGCACCGACGAGAAAGC	0.642																																						uc003jpj.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1156-1158)GAC>TAC		sorting nexin 18 isoform b							43.0	50.0	48.0					5																	53814938		2203	4300	6503	SO:0001583	missense	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53814938G>T	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1156G>T	5.37:g.53814938G>T	ENSP00000317332:p.Asp386Tyr					SNX18_uc011cqg.1_Missense_Mutation_p.D386Y|SNX18_uc003jpi.3_Missense_Mutation_p.D386Y	p.D386Y	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN			1	1346	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	386			PX.		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000326277.3	37	c.1156G>T	CCDS3962.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205194	0.79127	.	.	ENSG00000178996	ENST00000343017;ENST00000381410;ENST00000326277	T;T;T	0.20332	2.3;2.08;2.49	4.89	4.89	0.63831	Phox homologous domain (2);Sorting nexin protein, WASP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.60806	-0.7190	10	0.87932	D	0	-28.8527	18.2503	0.90000	0.0:0.0:1.0:0.0	.	386;386	Q96RF0;Q96RF0-2	SNX18_HUMAN;.	Y	386	ENSP00000342276:D386Y;ENSP00000370817:D386Y;ENSP00000317332:D386Y	ENSP00000317332:D386Y	D	+	1	0	SNX18	53850695	1.000000	0.71417	0.913000	0.36048	0.986000	0.74619	9.593000	0.98250	2.535000	0.85469	0.455000	0.32223	GAC		PASS	0.642	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			5	12	5	12	---	---	---	---
APC	324	broad.mit.edu	37	5	112175468	112175468	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr5:112175468C>A	ENST00000457016.1	+	16	4557	c.4177C>A	c.(4177-4179)Ctt>Att	p.L1393I	APC_ENST00000508376.2_Missense_Mutation_p.L1393I|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.L1393I			P25054	APC_HUMAN	adenomatous polyposis coli	1393	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.D1394fs*1(3)|p.L1393I(1)|p.Y1376fs*41(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGTCAGTTCACTTGATAGTTT	0.468		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		7	Insertion - Frameshift(3)|Deletion - Frameshift(2)|Substitution - Missense(1)|Unknown(1)	p.D1394fs*1(3)|p.L1393P(1)|p.Y1376fs*41(1)|p.K1192fs*3(1)|p.?(1)	large_intestine(4)|lung(1)|soft_tissue(1)|skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(4177-4179)CTT>ATT		adenomatous polyposis coli							105.0	99.0	101.0					5																	112175468		2202	4300	6502	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175468C>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4177C>A	5.37:g.112175468C>A	ENSP00000413133:p.Leu1393Ile	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.L1375I|APC_uc003kpz.3_Missense_Mutation_p.L1393I|APC_uc003kpy.3_Missense_Mutation_p.L1393I|APC_uc010jbz.2_Missense_Mutation_p.L1110I|APC_uc010jca.2_Missense_Mutation_p.L693I	p.L1393I	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4557	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1393			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.4177C>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566405	0.65651	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90563	-2.69;-2.69;-2.69	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93360	0.7883	L	0.58810	1.83	0.45035	D	0.998055	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.91999	0.5609	9	.	.	.	-12.5139	10.7905	0.46429	0.0:0.8597:0.0:0.1403	.	1395;1393	Q4LE70;P25054	.;APC_HUMAN	I	1393	ENSP00000413133:L1393I;ENSP00000257430:L1393I;ENSP00000427089:L1393I	.	L	+	1	0	APC	112203367	0.995000	0.38212	0.871000	0.34182	0.976000	0.68499	3.198000	0.51035	2.941000	0.99782	0.655000	0.94253	CTT		PASS	0.468	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		21	33	21	33	---	---	---	---
DDX46	9879	broad.mit.edu	37	5	134143584	134143584	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr5:134143584G>T	ENST00000354283.4	+	16	2236	c.2101G>T	c.(2101-2103)Gag>Tag	p.E701*	DDX46_ENST00000452510.2_Nonsense_Mutation_p.E701*			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	701	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.E701*(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAACCATTATGAGGATTATGT	0.398																																					Colon(13;391 453 4901 21675 24897)	uc003kzw.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(2101-2103)GAG>TAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							65.0	68.0	67.0					5																	134143584		2203	4300	6503	SO:0001587	stop_gained	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134143584G>T		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2101G>T	5.37:g.134143584G>T	ENSP00000346236:p.Glu701*					DDX46_uc003kzv.1_RNA	p.E701*	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		16	2269	+			701			Helicase C-terminal.		O94894|Q96EI0|Q9Y658	Nonsense_Mutation	SNP	ENST00000354283.4	37	c.2101G>T	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	40	8.452139	0.98817	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.2883	19.744	0.96245	0.0:0.0:1.0:0.0	.	.	.	.	X	701	.	ENSP00000346236:E701X	E	+	1	0	DDX46	134171483	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.797000	0.99108	2.746000	0.94184	0.561000	0.74099	GAG		PASS	0.398	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		6	38	6	38	---	---	---	---
DCANP1	140947	broad.mit.edu	37	5	134785627	134785627	+	5'Flank	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr5:134785627C>A	ENST00000503143.2	-	0	0				CTB-138E5.1_ENST00000510230.1_RNA|TIFAB_ENST00000537858.1_Start_Codon_SNP_p.M1I	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN								nucleus (GO:0005634)		p.M1I(1)		endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGGCTTCTCCATGGAAGAAG	0.597																																						uc003law.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>ATT		TIFA-related protein TIFAB							66.0	72.0	70.0					5																	134785627		2089	4225	6314	SO:0001631	upstream_gene_variant	497189							g.chr5:134785627C>A																													5.37:g.134785627C>A	Exception_encountered					C5orf20_uc003lav.2_5'Flank	p.M1I	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	204	-			1						Missense_Mutation	SNP	ENST00000503143.2	37	c.3G>T	CCDS4186.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508444	0.44660	.	.	ENSG00000255833	ENST00000537858	T	0.50813	0.73	4.91	4.04	0.47022	.	0.065652	0.64402	U	0.000013	T	0.37945	0.1022	.	.	.	0.80722	D	1	B	0.25667	0.131	B	0.16722	0.016	T	0.31971	-0.9924	9	0.87932	D	0	.	9.4932	0.38974	0.0:0.9006:0.0:0.0994	.	1	Q6ZNK6	TIFAB_HUMAN	I	1	ENSP00000440509:M1I	ENSP00000440509:M1I	M	-	3	0	TIFAB	134813526	1.000000	0.71417	0.923000	0.36655	0.259000	0.26198	2.220000	0.42908	1.194000	0.43101	0.563000	0.77884	ATG		PASS	0.597	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			4	38	4	38	---	---	---	---
SIL1	64374	broad.mit.edu	37	5	138356904	138356904	+	Silent	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr5:138356904G>T	ENST00000394817.2	-	7	862	c.723C>A	c.(721-723)ctC>ctA	p.L241L	SIL1_ENST00000509534.1_Silent_p.L248L|CTB-46B19.2_ENST00000512875.2_RNA|CTB-46B19.2_ENST00000510110.1_RNA|SIL1_ENST00000265195.5_Silent_p.L241L	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	241	Interaction with HSPA5 and localization to the endoplasmic reticulum. {ECO:0000250}.				intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)	p.L241L(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACTCCTTCACGAGGGGCTCTG	0.537									Marinesco-Sjgren syndrome																													uc003ldm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(721-723)CTC>CTA		SIL1 protein precursor							116.0	90.0	99.0					5																	138356904		2203	4300	6503	SO:0001819	synonymous_variant	64374	Marinesco-Sj_gren_syndrome	Familial Cancer Database	Marinesco-Sjogren syndrome	intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding	g.chr5:138356904G>T	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"""Marinesco-Sjogren syndrome"", ""SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"""	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.723C>A	5.37:g.138356904G>T						SIL1_uc003ldn.2_Silent_p.L240L|SIL1_uc003ldo.2_Silent_p.L241L|SIL1_uc003ldp.2_Silent_p.L241L|SIL1_uc003ldq.1_Silent_p.L34L	p.L241L	NM_022464	NP_071909	Q9H173	SIL1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	740	-			241			Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).		D3DQC2|Q8N2L3	Silent	SNP	ENST00000394817.2	37	c.723C>A	CCDS4209.1																																																																																				PASS	0.537	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464		4	43	4	43	---	---	---	---
RBM27	54439	broad.mit.edu	37	5	145649058	145649058	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr5:145649058G>A	ENST00000265271.5	+	17	2768	c.2602G>A	c.(2602-2604)Gag>Aag	p.E868K	RBM27_ENST00000506502.1_Missense_Mutation_p.E813K	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	868					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E868K(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACTTTGAAAGAGCTTGGAGA	0.308																																						uc003lnz.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|pancreas(1)	3						c.(2602-2604)GAG>AAG		RNA binding motif protein 27							72.0	67.0	69.0					5																	145649058		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145649058G>A	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2602G>A	5.37:g.145649058G>A	ENSP00000265271:p.Glu868Lys					RBM27_uc003lny.2_Missense_Mutation_p.E813K	p.E868K	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	2768	+			868			Potential.		Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.2602G>A	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716897	0.30413	.	.	ENSG00000091009	ENST00000265271	T	0.42131	0.98	5.78	5.78	0.91487	.	0.152878	0.45361	D	0.000367	T	0.30103	0.0754	L	0.40543	1.245	0.51233	D	0.99991	P	0.37781	0.608	B	0.35413	0.202	T	0.08186	-1.0734	10	0.06236	T	0.91	-9.2618	13.2416	0.59999	0.0721:0.0:0.9279:0.0	.	868	Q9P2N5	RBM27_HUMAN	K	868	ENSP00000265271:E868K	ENSP00000265271:E868K	E	+	1	0	RBM27	145629251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.455000	0.80726	2.730000	0.93505	0.655000	0.94253	GAG		PASS	0.308	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		17	31	17	31	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149216148	149216148	+	Silent	SNP	G	G	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr5:149216148G>A	ENST00000309241.5	+	8	2162	c.2130G>A	c.(2128-2130)agG>agA	p.R710R	PPARGC1B_ENST00000403750.1_Silent_p.R646R|PPARGC1B_ENST00000394320.3_Silent_p.R710R|PPARGC1B_ENST00000360453.4_Silent_p.R671R	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	710					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.R710R(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGGTGCTGAGGTCCTGGGAGC	0.637																																						uc003lrc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2128-2130)AGG>AGA		peroxisome proliferator-activated receptor							46.0	51.0	49.0					5																	149216148		2203	4300	6503	SO:0001819	synonymous_variant	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216148G>A	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2130G>A	5.37:g.149216148G>A						PPARGC1B_uc003lrb.1_Silent_p.R710R|PPARGC1B_uc003lrd.2_Silent_p.R671R|PPARGC1B_uc003lrf.2_Silent_p.R689R|PPARGC1B_uc003lre.1_Silent_p.R689R	p.R710R	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2172	+			710					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	ENST00000309241.5	37	c.2130G>A	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	G	7.275	0.607896	0.14002	.	.	ENSG00000155846	ENST00000434684	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	T	0.64294	0.2585	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62709	-0.6797	4	.	.	.	-15.55	12.6242	0.56620	0.0808:0.0:0.9192:0.0	.	.	.	.	I	397	.	.	V	+	1	0	PPARGC1B	149196341	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	2.114000	0.41911	2.354000	0.79902	0.456000	0.33151	GTC		PASS	0.637	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		10	19	10	19	---	---	---	---
SYNPO	11346	broad.mit.edu	37	5	150028164	150028164	+	Silent	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr5:150028164G>T	ENST00000394243.1	+	3	1433	c.1059G>T	c.(1057-1059)ctG>ctT	p.L353L	SYNPO_ENST00000522122.1_Silent_p.L353L|SYNPO_ENST00000307662.4_Silent_p.L109L|SYNPO_ENST00000518872.1_3'UTR|SYNPO_ENST00000519664.1_Silent_p.L109L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	353					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)	p.L353L(1)|p.L109L(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACAGAGCCTGCCACTTTCTA	0.567																																						uc003lsn.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)	1						c.(1057-1059)CTG>CTT		synaptopodin isoform B							159.0	145.0	150.0					5																	150028164		2203	4300	6503	SO:0001819	synonymous_variant	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150028164G>T	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.1059G>T	5.37:g.150028164G>T						SYNPO_uc003lso.3_Silent_p.L109L|SYNPO_uc003lsp.2_Silent_p.L109L	p.L353L	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	1433	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	353					A5PKZ8|D3DQG8|O15271|Q9UPX1	Silent	SNP	ENST00000394243.1	37	c.1059G>T	CCDS54937.1																																																																																				PASS	0.567	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		5	102	5	102	---	---	---	---
GABRA6	2559	broad.mit.edu	37	5	161116753	161116753	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr5:161116753C>G	ENST00000274545.5	+	6	1074	c.641C>G	c.(640-642)aCa>aGa	p.T214R	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.T204R			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	214					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|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)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T214R(1)|p.T214I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	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)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ATTGGACAAACAGTATCTAGT	0.363										TCGA Ovarian(5;0.080)																												uc003lyu.2																			2	Substitution - Missense(2)	p.T214I(1)	ovary(1)|lung(1)	ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(640-642)ACA>AGA		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						73.0	81.0	78.0					5																	161116753		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161116753C>G		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.641C>G	5.37:g.161116753C>G	ENSP00000274545:p.Thr214Arg	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_5'UTR	p.T214R	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		6	979	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	214			Extracellular (Probable).		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.641C>G	CCDS4356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.09|13.09	2.132943|2.132943	0.37630|0.37630	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000520000|ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691	.|T;T;T;T	.|0.79141	.|-1.24;-1.24;-1.24;-1.24	5.41|5.41	5.41|5.41	0.78517|0.78517	.|Neurotransmitter-gated ion-channel ligand-binding (3);	.|0.047469	.|0.85682	.|D	.|0.000000	T|T	0.79299|0.79299	0.4422|0.4422	L|L	0.35542|0.35542	1.07|1.07	0.58432|0.58432	D|D	0.999996|0.999996	.|D	.|0.63046	.|0.992	.|D	.|0.70487	.|0.969	T|T	0.72871|0.72871	-0.4161|-0.4161	5|10	.|0.08837	.|T	.|0.75	.|.	14.0794|14.0794	0.64912|0.64912	0.1506:0.8494:0.0:0.0|0.1506:0.8494:0.0:0.0	.|.	.|214	.|Q16445	.|GBRA6_HUMAN	E|R	154|214;204;161;134	.|ENSP00000274545:T214R;ENSP00000430527:T204R;ENSP00000430212:T161R;ENSP00000427989:T134R	.|ENSP00000274545:T214R	Q|T	+|+	1|2	0|0	GABRA6|GABRA6	161049331|161049331	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.542000|4.542000	0.60677|0.60677	2.526000|2.526000	0.85167|0.85167	0.655000|0.655000	0.94253|0.94253	CAG|ACA		PASS	0.363	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			17	29	17	29	---	---	---	---
TBC1D9B	23061	broad.mit.edu	37	5	179320369	179320369	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr5:179320369G>A	ENST00000356834.3	-	5	713	c.676C>T	c.(676-678)Ctc>Ttc	p.L226F	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.L226F	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	226						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.L226F(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAAGAAGAGCTCCTGGTCG	0.607																																						uc003mlh.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|skin(1)	2						c.(676-678)CTC>TTC		TBC1 domain family, member 9B (with GRAM domain)							86.0	76.0	79.0					5																	179320369		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179320369G>A	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.676C>T	5.37:g.179320369G>A	ENSP00000349291:p.Leu226Phe					TBC1D9B_uc003mli.2_Missense_Mutation_p.L226F|TBC1D9B_uc003mlj.2_Missense_Mutation_p.L226F	p.L226F	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	713	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	226					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.676C>T	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018346	0.54576	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.08807	3.05;3.13	4.57	4.57	0.56435	.	0.071095	0.56097	D	0.000022	T	0.09774	0.0240	N	0.08118	0	0.80722	D	1	P;P;B	0.47762	0.84;0.9;0.085	P;P;B	0.54140	0.558;0.743;0.04	T	0.49579	-0.8925	10	0.25751	T	0.34	-25.0589	17.5227	0.87792	0.0:0.0:1.0:0.0	.	226;226;226	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	F	226	ENSP00000349291:L226F;ENSP00000347375:L226F	ENSP00000347375:L226F	L	-	1	0	TBC1D9B	179252975	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.599000	0.82757	2.383000	0.81215	0.313000	0.20887	CTC		PASS	0.607	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		11	28	11	28	---	---	---	---
HDGFL1	154150	broad.mit.edu	37	6	22569818	22569818	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr6:22569818G>T	ENST00000230012.3	+	1	141	c.14G>T	c.(13-15)gGc>gTc	p.G5V	HDGFL1_ENST00000510882.2_Missense_Mutation_p.G5V	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	5								p.G5V(1)		kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					TCGGCCTACGGCATGCCCATG	0.647																																						uc003nds.2																			1	Substitution - Missense(1)		lung(1)		0						c.(13-15)GGC>GTC		hepatoma derived growth factor-like 1							52.0	55.0	54.0					6																	22569818		2203	4300	6503	SO:0001583	missense	154150							g.chr6:22569818G>T	AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"""PWWP domain containing 1"""	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.14G>T	6.37:g.22569818G>T	ENSP00000230012:p.Gly5Val						p.G5V	NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN			1	141	+	Ovarian(93;0.163)		5					Q96MJ6	Missense_Mutation	SNP	ENST00000230012.3	37	c.14G>T	CCDS34347.1	.	.	.	.	.	.	.	.	.	.	G	9.159	1.018299	0.19355	.	.	ENSG00000112273	ENST00000230012;ENST00000510882	T;T	0.29655	1.56;1.56	3.56	-0.768	0.11013	.	0.707365	0.13512	N	0.382416	T	0.04679	0.0127	N	0.14661	0.345	0.09310	N	1	B	0.23735	0.09	B	0.18561	0.022	T	0.33752	-0.9856	10	0.49607	T	0.09	-5.1544	3.0219	0.06078	0.3601:0.0:0.4454:0.1945	.	5	Q5TGJ6	HDGL1_HUMAN	V	5	ENSP00000230012:G5V;ENSP00000442129:G5V	ENSP00000230012:G5V	G	+	2	0	HDGFL1	22677797	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.341000	0.19909	-0.168000	0.10853	0.491000	0.48974	GGC		PASS	0.647	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043500.1	NM_138574		17	2	17	2	---	---	---	---
GSTA4	2941	broad.mit.edu	37	6	52849319	52849319	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr6:52849319C>A	ENST00000370959.1	-	5	474	c.357G>T	c.(355-357)aaG>aaT	p.K119N	GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000370960.1_Missense_Mutation_p.K26N|GSTA4_ENST00000541324.1_Missense_Mutation_p.K26N			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	119	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)	p.K119N(1)		endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	TAACCACTTCCTTTTGCTGAT	0.428																																						uc003pbc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(355-357)AAG>AAT		glutathione S-transferase alpha 4	Glutathione(DB00143)						136.0	117.0	123.0					6																	52849319		2203	4300	6503	SO:0001583	missense	2941				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity	g.chr6:52849319C>A	AF020918	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4629	protein-coding gene	gene with protein product		605450	"""glutathione S-transferase A4"""			9480897	Standard	NM_001512		Approved		uc003pbf.3	O15217	OTTHUMG00000014868	ENST00000370959.1:c.357G>T	6.37:g.52849319C>A	ENSP00000359998:p.Lys119Asn					GSTA4_uc003pbd.2_Missense_Mutation_p.K26N|GSTA4_uc003pbe.2_Missense_Mutation_p.K26N|GSTA4_uc003pbf.2_Missense_Mutation_p.K119N	p.K119N	NM_001512	NP_001503	O15217	GSTA4_HUMAN			4	421	-	Lung NSC(77;0.103)		119			GST C-terminal.		B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414	Missense_Mutation	SNP	ENST00000370959.1	37	c.357G>T	CCDS4948.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099319	0.37048	.	.	ENSG00000170899	ENST00000370963;ENST00000541324;ENST00000370960;ENST00000370959;ENST00000457564	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.0	2.05	0.26809	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.606058	0.18029	N	0.153979	T	0.10680	0.0261	L	0.52573	1.65	0.24399	N	0.994718	B	0.31153	0.31	B	0.30251	0.113	T	0.11179	-1.0598	10	0.34782	T	0.22	-16.324	7.1282	0.25484	0.0:0.6453:0.1398:0.2149	.	119	O15217	GSTA4_HUMAN	N	119;26;26;119;26	ENSP00000360002:K119N;ENSP00000439439:K26N;ENSP00000359999:K26N;ENSP00000359998:K119N;ENSP00000394228:K26N	ENSP00000359998:K119N	K	-	3	2	GSTA4	52957278	0.604000	0.26932	0.997000	0.53966	0.934000	0.57294	0.686000	0.25392	1.234000	0.43709	0.557000	0.71058	AAG		PASS	0.428	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040946.1	NM_001512		5	58	5	58	---	---	---	---
RAB23	51715	broad.mit.edu	37	6	57075140	57075140	+	Silent	SNP	C	C	A	rs45469399		TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr6:57075140C>A	ENST00000317483.3	-	2	658	c.39G>T	c.(37-39)gtG>gtT	p.V13V	RAB23_ENST00000468148.1_Silent_p.V13V	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	13			Missing. {ECO:0000269|PubMed:17503333}.		autophagic vacuole assembly (GO:0000045)|cellular defense response (GO:0006968)|cilium assembly (GO:0042384)|craniofacial suture morphogenesis (GO:0097094)|embryonic digit morphogenesis (GO:0042733)|GTP catabolic process (GO:0006184)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription factor import into nucleus (GO:0042992)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|small GTPase mediated signal transduction (GO:0007264)|spinal cord dorsal/ventral patterning (GO:0021513)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V13V(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCCCTACAACCACCATCTTTA	0.383																																						uc003pds.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(37-39)GTG>GTT		Ras-related protein Rab-23							231.0	212.0	218.0					6																	57075140		2203	4300	6503	SO:0001819	synonymous_variant	51715				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr6:57075140C>A	AB034244	CCDS4962.1	6p12.1	2008-05-15			ENSG00000112210	ENSG00000112210		"""RAB, member RAS oncogene"""	14263	protein-coding gene	gene with protein product		606144					Standard	NM_016277		Approved		uc003pdt.3	Q9ULC3	OTTHUMG00000014918	ENST00000317483.3:c.39G>T	6.37:g.57075140C>A						RAB23_uc003pdt.2_Silent_p.V13V|RAB23_uc010kac.2_Silent_p.V13V|RAB23_uc010kad.2_RNA	p.V13V	NM_183227	NP_899050	Q9ULC3	RAB23_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		2	245	-	Lung NSC(77;0.121)		13		Missing.			B2R9I5|Q68DJ6|Q8NI06|Q9P023	Silent	SNP	ENST00000317483.3	37	c.39G>T	CCDS4962.1																																																																																				PASS	0.383	RAB23-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041042.1			6	124	6	124	---	---	---	---
CD109	135228	broad.mit.edu	37	6	74520791	74520791	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr6:74520791C>T	ENST00000287097.5	+	28	3735	c.3623C>T	c.(3622-3624)aCc>aTc	p.T1208I	CD109_ENST00000422508.2_Missense_Mutation_p.T1131I|CD109_ENST00000437994.2_Missense_Mutation_p.T1208I			Q6YHK3	CD109_HUMAN	CD109 molecule	1208					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.T1208I(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCCAAGTGACCGTGACGGGG	0.468																																						uc003php.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(3622-3624)ACC>ATC		CD109 antigen isoform 1 precursor							114.0	109.0	111.0					6																	74520791		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74520791C>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3623C>T	6.37:g.74520791C>T	ENSP00000287097:p.Thr1208Ile					CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.T1208I|CD109_uc010kba.2_Missense_Mutation_p.T1131I	p.T1208I	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			28	4048	+			1208					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.3623C>T	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	C	8.718	0.913552	0.17907	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.27720	1.65;1.91;1.7	5.2	2.24	0.28232	.	1.291680	0.04769	N	0.427670	T	0.27063	0.0663	L	0.53249	1.67	0.22378	N	0.999151	B;P;B	0.46656	0.253;0.882;0.431	B;P;B	0.58013	0.22;0.831;0.288	T	0.12268	-1.0554	10	0.45353	T	0.12	.	4.859	0.13573	0.2587:0.5336:0.0:0.2076	.	1131;1208;1208	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	I	1208;1131;1208	ENSP00000388062:T1208I;ENSP00000404475:T1131I;ENSP00000287097:T1208I	ENSP00000287097:T1208I	T	+	2	0	CD109	74577512	0.017000	0.18338	0.615000	0.29064	0.232000	0.25224	0.164000	0.16542	0.722000	0.32252	0.655000	0.94253	ACC		PASS	0.468	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		17	48	17	48	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75814968	75814968	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr6:75814968G>T	ENST00000322507.8	-	54	8528	c.8219C>A	c.(8218-8220)aCa>aAa	p.T2740K	COL12A1_ENST00000345356.6_Missense_Mutation_p.T1576K|COL12A1_ENST00000416123.2_Missense_Mutation_p.T2664K|COL12A1_ENST00000483888.2_Missense_Mutation_p.T2740K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2740	Nonhelical region (NC3).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.T2740K(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTGTGTACATGTGCAAGAATT	0.393																																						uc003phs.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(8218-8220)ACA>AAA		collagen, type XII, alpha 1 long isoform							65.0	80.0	76.0					6																	75814968		1865	4116	5981	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75814968G>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8219C>A	6.37:g.75814968G>T	ENSP00000325146:p.Thr2740Lys					COL12A1_uc003pht.2_Missense_Mutation_p.T1576K	p.T2740K	NM_004370	NP_004361	Q99715	COCA1_HUMAN			54	8385	-			2740			Nonhelical region (NC3).		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.8219C>A	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575400	0.65878	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.97068	0.9042	M	0.70275	2.135	0.53005	D	0.999965	D;D	0.69078	0.997;0.995	D;P	0.63113	0.911;0.859	D	0.97273	0.9912	10	0.87932	D	0	.	19.6611	0.95871	0.0:0.0:1.0:0.0	.	1576;2740	Q99715-2;Q99715	.;COCA1_HUMAN	K	2740;378;2664;1576;2664;2740	ENSP00000325146:T2740K;ENSP00000399812:T378K;ENSP00000305147:T1576K;ENSP00000412864:T2664K;ENSP00000421216:T2740K	ENSP00000325146:T2740K	T	-	2	0	COL12A1	75871688	1.000000	0.71417	0.896000	0.35187	0.126000	0.20510	9.040000	0.93783	2.643000	0.89663	0.655000	0.94253	ACA		PASS	0.393	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		7	15	7	15	---	---	---	---
CCDC170	80129	broad.mit.edu	37	6	151917703	151917703	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr6:151917703T>G	ENST00000239374.7	+	9	1800	c.1701T>G	c.(1699-1701)aaT>aaG	p.N567K	CCDC170_ENST00000367290.5_Missense_Mutation_p.N567K	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	567								p.N567K(1)									CCGACACCAATGAACTGAAGG	0.478																																						uc003qol.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1699-1701)AAT>AAG		hypothetical protein LOC80129							84.0	89.0	88.0					6																	151917703		2043	4200	6243	SO:0001583	missense	80129							g.chr6:151917703T>G	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1701T>G	6.37:g.151917703T>G	ENSP00000239374:p.Asn567Lys						p.N567K	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	9	1790	+		Ovarian(120;0.126)	567			Potential.		Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.1701T>G	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.550178	0.45383	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.76968	2.9;-1.06	5.63	0.688	0.18027	.	0.572833	0.18323	N	0.144725	T	0.55545	0.1927	M	0.66939	2.045	0.41343	D	0.987314	P	0.44195	0.828	B	0.36845	0.234	T	0.52660	-0.8546	10	0.31617	T	0.26	-8.1053	9.0569	0.36412	0.0:0.2788:0.0:0.7212	.	567	Q8IYT3	CF097_HUMAN	K	567	ENSP00000239374:N567K;ENSP00000356259:N567K	ENSP00000239374:N567K	N	+	3	2	C6orf97	151959396	0.156000	0.22821	0.669000	0.29828	0.806000	0.45545	0.132000	0.15891	0.105000	0.17753	-0.290000	0.09829	AAT		PASS	0.478	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		30	56	30	56	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169621534	169621534	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr6:169621534C>G	ENST00000366787.3	-	21	3611	c.3362G>C	c.(3361-3363)gGc>gCc	p.G1121A	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1121	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.G1121A(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCTGATGTAGCCAGTCTTGGG	0.527																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(3361-3363)GGC>GCC		thrombospondin 2 precursor							155.0	136.0	143.0					6																	169621534		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169621534C>G		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.3362G>C	6.37:g.169621534C>G	ENSP00000355751:p.Gly1121Ala						p.G1121A	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	21	3610	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	1121			TSP C-terminal.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.3362G>C	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754064	0.69648	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.97924	-4.61	4.92	4.92	0.64577	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.41605	U	0.000842	D	0.98782	0.9590	M	0.88377	2.95	0.58432	D	0.999999	D	0.76494	0.999	D	0.66847	0.947	D	0.99808	1.1039	10	0.87932	D	0	-41.7006	18.1469	0.89661	0.0:1.0:0.0:0.0	.	1121	P35442	TSP2_HUMAN	A	1121;379	ENSP00000355751:G1121A	ENSP00000355751:G1121A	G	-	2	0	THBS2	169363459	1.000000	0.71417	0.421000	0.26609	0.293000	0.27360	7.276000	0.78559	2.267000	0.75376	0.579000	0.79373	GGC		PASS	0.527	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		8	70	8	70	---	---	---	---
COX19	90639	broad.mit.edu	37	7	1009037	1009037	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr7:1009037C>A	ENST00000344111.3	-	3	339	c.250G>T	c.(250-252)Gga>Tga	p.G84*		NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)	84						cytoplasm (GO:0005737)		p.G84*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		TCTGATTTTCCACTAGTCAAG	0.473																																						uc003sjp.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(250-252)GGA>TGA		COX19 cytochrome c oxidase assembly homolog							268.0	307.0	294.0					7																	1009037		2203	4300	6503	SO:0001587	stop_gained	90639					cytosol		g.chr7:1009037C>A	AY957566	CCDS34582.1	7p22.3	2012-10-15	2012-10-15		ENSG00000240230	ENSG00000240230		"""Mitochondrial respiratory chain complex assembly factors"""	28074	protein-coding gene	gene with protein product		610429	"""COX19 cytochrome c oxidase assembly homolog (S. cerevisiae)"""			15596615, 16212937	Standard	NM_001031617		Approved	MGC104475	uc003sjp.1	Q49B96	OTTHUMG00000151476	ENST00000344111.3:c.250G>T	7.37:g.1009037C>A	ENSP00000342015:p.Gly84*					ADAP1_uc010ksc.2_Intron	p.G84*	NM_001031617	NP_001026788	Q49B96	COX19_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)	3	340	-		Ovarian(82;0.0112)	84					A4FTX0	Nonsense_Mutation	SNP	ENST00000344111.3	37	c.250G>T	CCDS34582.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719054	0.68844	.	.	ENSG00000240230	ENST00000344111	.	.	.	4.17	3.29	0.37713	.	0.497840	0.19653	N	0.109168	.	.	.	.	.	.	0.29690	N	0.84102	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-22.587	9.7512	0.40477	0.0:0.8974:0.0:0.1026	.	.	.	.	X	84	.	ENSP00000342015:G84X	G	-	1	0	COX19	975563	0.750000	0.28316	0.008000	0.14137	0.814000	0.46013	1.748000	0.38308	1.068000	0.40764	0.555000	0.69702	GGA		PASS	0.473	COX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322812.1	NM_001031617		9	287	9	287	---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117431826	117431826	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr7:117431826G>T	ENST00000160373.3	-	4	1515	c.1424C>A	c.(1423-1425)tCg>tAg	p.S475*	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	475	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.S475*(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ACTTGTAGGCGAGACATCTCT	0.483																																						uc003vjf.2																			2	Substitution - Nonsense(2)		lung(1)|endometrium(1)	ovary(4)|central_nervous_system(1)	5						c.(1423-1425)TCG>TAG		cortactin binding protein 2							297.0	287.0	290.0					7																	117431826		2203	4300	6503	SO:0001587	stop_gained	83992							g.chr7:117431826G>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1424C>A	7.37:g.117431826G>T	ENSP00000160373:p.Ser475*						p.S475*	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	1516	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		475			Pro-rich.		O43389|Q7LG11|Q9C0A5	Nonsense_Mutation	SNP	ENST00000160373.3	37	c.1424C>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951869	0.53293	.	.	ENSG00000077063	ENST00000160373	.	.	.	5.52	5.52	0.82312	.	0.049744	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8213	19.7999	0.96502	0.0:0.0:1.0:0.0	.	.	.	.	X	475	.	ENSP00000160373:S475X	S	-	2	0	CTTNBP2	117219062	1.000000	0.71417	0.754000	0.31244	0.050000	0.14768	9.174000	0.94824	2.751000	0.94390	0.650000	0.86243	TCG		PASS	0.483	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		7	287	7	287	---	---	---	---
TAS2R16	50833	broad.mit.edu	37	7	122635530	122635530	+	Silent	SNP	G	G	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr7:122635530G>A	ENST00000249284.2	-	1	224	c.159C>T	c.(157-159)ggC>ggT	p.G53G		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	53					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)	p.G53G(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGCGAGAGATGCCCAGGCTGA	0.438																																						uc003vkl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(157-159)GGC>GGT		taste receptor T2R16							66.0	64.0	65.0					7																	122635530		2203	4300	6503	SO:0001819	synonymous_variant	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635530G>A	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.159C>T	7.37:g.122635530G>A							p.G53G	NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN			1	225	-			53			Helical; Name=2; (Potential).		A4D0X2|Q502V3|Q549U8|Q645W1	Silent	SNP	ENST00000249284.2	37	c.159C>T	CCDS5785.1																																																																																				PASS	0.438	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		16	60	16	60	---	---	---	---
ASB15	142685	broad.mit.edu	37	7	123256317	123256317	+	Silent	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr7:123256317C>A	ENST00000451558.1	+	7	671	c.150C>A	c.(148-150)gcC>gcA	p.A50A	ASB15_ENST00000434204.1_Silent_p.A50A|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000451215.1_Silent_p.A50A|RP11-390E23.3_ENST00000418409.1_RNA|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000275699.3_Silent_p.A50A|ASB15_ENST00000540573.1_Silent_p.A50A			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	50					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.A50A(2)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TTGTGGAGGCCATAAAACAAG	0.353																																						uc003vku.1																			2	Substitution - coding silent(2)		lung(2)	skin(2)|lung(1)	3						c.(148-150)GCC>GCA		ankyrin repeat and SOCS box-containing 15							95.0	95.0	95.0					7																	123256317		2203	4300	6503	SO:0001819	synonymous_variant	142685				intracellular signal transduction			g.chr7:123256317C>A	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.150C>A	7.37:g.123256317C>A						ASB15_uc003vkv.1_Silent_p.A50A|ASB15_uc003vkw.1_Silent_p.A50A	p.A50A	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN			5	442	+			50					Q3ZCP3|Q3ZCP5|Q68D37	Silent	SNP	ENST00000451558.1	37	c.150C>A	CCDS34742.1																																																																																				PASS	0.353	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			9	58	9	58	---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135307641	135307641	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr7:135307641C>T	ENST00000285968.6	+	31	4473	c.4447C>T	c.(4447-4449)Cga>Tga	p.R1483*		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1483					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.R1483*(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGTGGTCTGTCGAGATGCTTG	0.383																																						uc003vsw.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(4447-4449)CGA>TGA		nucleoporin 205kDa							98.0	95.0	96.0					7																	135307641		2203	4300	6503	SO:0001587	stop_gained	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135307641C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4447C>T	7.37:g.135307641C>T	ENSP00000285968:p.Arg1483*					NUP205_uc003vsx.2_RNA	p.R1483*	NM_015135	NP_055950	Q92621	NU205_HUMAN			31	4478	+			1483					A6H8X3|Q86YC1	Nonsense_Mutation	SNP	ENST00000285968.6	37	c.4447C>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	44	10.870996	0.99481	.	.	ENSG00000155561	ENST00000285968	.	.	.	4.83	3.93	0.45458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.0615	14.5921	0.68373	0.1474:0.8526:0.0:0.0	.	.	.	.	X	1483	.	ENSP00000285968:R1483X	R	+	1	2	NUP205	134958181	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.263000	0.43293	1.129000	0.42072	-0.293000	0.09583	CGA		PASS	0.383	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			19	43	19	43	---	---	---	---
PDIA4	9601	broad.mit.edu	37	7	148718111	148718111	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr7:148718111C>G	ENST00000286091.4	-	2	449	c.217G>C	c.(217-219)Gat>Cat	p.D73H		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	73	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)	p.D73H(1)		large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			ACAAAATTATCAAAGTTTGCA	0.458																																						uc003wff.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(1)	6						c.(217-219)GAT>CAT		protein disulfide isomerase A4 precursor							177.0	163.0	168.0					7																	148718111		2203	4300	6503	SO:0001583	missense	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148718111C>G	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.217G>C	7.37:g.148718111C>G	ENSP00000286091:p.Asp73His						p.D73H	NM_004911	NP_004902	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		2	499	-	Melanoma(164;0.15)		73			Thioredoxin 1.		A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	c.217G>C	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609030	0.66558	.	.	ENSG00000155660	ENST00000286091;ENST00000413966	T;T	0.45276	0.9;0.9	4.75	4.75	0.60458	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.000000	0.85682	U	0.000000	T	0.69405	0.3107	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.74702	-0.3576	10	0.48119	T	0.1	.	17.7789	0.88517	0.0:1.0:0.0:0.0	.	73	P13667	PDIA4_HUMAN	H	73;121	ENSP00000286091:D73H;ENSP00000408628:D121H	ENSP00000286091:D73H	D	-	1	0	PDIA4	148349044	1.000000	0.71417	0.987000	0.45799	0.868000	0.49771	7.549000	0.82163	2.191000	0.70037	0.563000	0.77884	GAT		PASS	0.458	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		10	33	10	33	---	---	---	---
PDIA4	9601	broad.mit.edu	37	7	148718159	148718159	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr7:148718159C>A	ENST00000286091.4	-	2	401	c.169G>T	c.(169-171)Gaa>Taa	p.E57*		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	57	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)	p.E57*(1)		large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TCCTTAACTTCCAAGTCGtct	0.423																																						uc003wff.2																			1	Substitution - Nonsense(1)		lung(1)	lung(5)|ovary(1)	6						c.(169-171)GAA>TAA		protein disulfide isomerase A4 precursor							198.0	182.0	187.0					7																	148718159		2203	4300	6503	SO:0001587	stop_gained	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148718159C>A	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.169G>T	7.37:g.148718159C>A	ENSP00000286091:p.Glu57*						p.E57*	NM_004911	NP_004902	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		2	451	-	Melanoma(164;0.15)		57			Thioredoxin 1.		A8K4K6|Q549T6	Nonsense_Mutation	SNP	ENST00000286091.4	37	c.169G>T	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	C	37	6.550803	0.97658	.	.	ENSG00000155660	ENST00000286091;ENST00000413966	.	.	.	4.75	3.83	0.44106	.	0.115621	0.56097	U	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	14.8965	0.70646	0.0:0.8565:0.1435:0.0	.	.	.	.	X	57;105	.	ENSP00000286091:E57X	E	-	1	0	PDIA4	148349092	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.820000	0.69250	2.191000	0.70037	0.563000	0.77884	GAA		PASS	0.423	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		5	32	5	32	---	---	---	---
ZNF786	136051	broad.mit.edu	37	7	148769401	148769401	+	Missense_Mutation	SNP	C	C	A	rs370130047		TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr7:148769401C>A	ENST00000491431.1	-	4	527	c.463G>T	c.(463-465)Ggc>Tgc	p.G155C	ZNF786_ENST00000316286.9_Missense_Mutation_p.G69C|ZNF786_ENST00000451334.3_Missense_Mutation_p.G118C	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G154C(1)		breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCACTGGGGCCGCAGGCTAGT	0.592																																						uc003wfh.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(1)	4						c.(463-465)GGC>TGC		zinc finger protein 786							36.0	40.0	39.0					7																	148769401		1885	4123	6008	SO:0001583	missense	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148769401C>A	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.463G>T	7.37:g.148769401C>A	ENSP00000417470:p.Gly155Cys					ZNF786_uc011kuk.1_Missense_Mutation_p.G118C|ZNF786_uc003wfi.2_Missense_Mutation_p.G69C	p.G155C	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	600	-	Melanoma(164;0.15)		155					A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	37	c.463G>T	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495091	0.44352	.	.	ENSG00000197362	ENST00000316286;ENST00000538412;ENST00000491431;ENST00000451334	T;T;T	0.07908	3.15;3.27;3.2	4.19	-5.9	0.02275	.	0.792892	0.10727	N	0.641025	T	0.03053	0.0090	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.15870	0.014	T	0.38757	-0.9646	10	0.62326	D	0.03	-2.586	2.6592	0.05021	0.2329:0.4432:0.1179:0.2059	.	155	Q8N393	ZN786_HUMAN	C	69;69;155;118	ENSP00000313516:G69C;ENSP00000417470:G155C;ENSP00000404984:G118C	ENSP00000313516:G69C	G	-	1	0	ZNF786	148400334	0.084000	0.21492	0.000000	0.03702	0.002000	0.02628	0.394000	0.20834	-1.212000	0.02620	-0.258000	0.10820	GGC		PASS	0.592	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		9	12	9	12	---	---	---	---
AOC1	26	broad.mit.edu	37	7	150555890	150555890	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr7:150555890A>G	ENST00000493429.1	+	5	2194	c.1610A>G	c.(1609-1611)gAa>gGa	p.E537G	AOC1_ENST00000416793.2_Missense_Mutation_p.E537G|AOC1_ENST00000360937.4_Missense_Mutation_p.E537G|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000467291.1_Missense_Mutation_p.E537G			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	537					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.E537G(1)								Amiloride(DB00594)	ATGAAGCTAGAAAACATCACC	0.562																																						uc003why.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(2)	6						c.(1609-1611)GAA>GGA		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)						46.0	50.0	49.0					7																	150555890		2037	4186	6223	SO:0001583	missense	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150555890A>G	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1610A>G	7.37:g.150555890A>G	ENSP00000418614:p.Glu537Gly					ABP1_uc003whz.1_Missense_Mutation_p.E537G|ABP1_uc003wia.1_Missense_Mutation_p.E537G	p.E537G	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	5828	+	all_neural(206;0.219)		537					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.1610A>G	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.405036	0.83230	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000487631;ENST00000416793;ENST00000437714	T;T;T;T	0.04156	3.69;3.69;3.69;3.69	5.42	5.42	0.78866	Copper amine oxidase, C-terminal (3);	0.103748	0.64402	D	0.000005	T	0.17152	0.0412	M	0.67700	2.07	0.42263	D	0.992024	D;P	0.53885	0.963;0.93	P;P	0.62435	0.902;0.627	T	0.00194	-1.1933	10	0.56958	D	0.05	-28.6658	13.4186	0.60982	1.0:0.0:0.0:0.0	.	537;537	C9J690;P19801	.;ABP1_HUMAN	G	537;537;537;63;537;413	ENSP00000418614:E537G;ENSP00000418328:E537G;ENSP00000354193:E537G;ENSP00000411613:E537G	ENSP00000354193:E537G	E	+	2	0	ABP1	150186823	1.000000	0.71417	0.902000	0.35471	0.965000	0.64279	6.386000	0.73186	2.054000	0.61138	0.459000	0.35465	GAA		PASS	0.562	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		7	41	7	41	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3224667	3224667	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr8:3224667C>A	ENST00000520002.1	-	21	3560	c.3005G>T	c.(3004-3006)gGg>gTg	p.G1002V	CSMD1_ENST00000400186.3_Missense_Mutation_p.G1002V|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1001V|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1001V|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1002V|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1001V|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1002V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1002	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.G730V(1)|p.G1001V(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAACACCGACCCGGTGAGCCT	0.478																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(3004-3006)GGG>GTG		CUB and Sushi multiple domains 1 precursor							65.0	67.0	66.0					8																	3224667		1878	4113	5991	SO:0001583	missense	64478					integral to membrane		g.chr8:3224667C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3005G>T	8.37:g.3224667C>A	ENSP00000430733:p.Gly1002Val					CSMD1_uc011kwj.1_Missense_Mutation_p.G394V|CSMD1_uc003wqe.2_Missense_Mutation_p.G158V	p.G1002V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	20	3395	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1002			Extracellular (Potential).|CUB 6.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.3005G>T		.	.	.	.	.	.	.	.	.	.	C	14.19	2.461084	0.43736	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.22	4.35	0.52113	CUB (5);	0.000000	0.85682	D	0.000000	D	0.85431	0.5695	H	0.97265	3.97	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.97110	1.0;1.0;0.919	D	0.88783	0.3272	10	0.44086	T	0.13	.	13.7375	0.62827	0.0:0.9254:0.0:0.0746	.	1002;1002;1002	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	V	1002;1002;864;1001;1001;1001	ENSP00000383047:G1002V;ENSP00000430733:G1002V;ENSP00000441462:G1001V;ENSP00000446243:G1001V;ENSP00000441675:G1001V	ENSP00000320445:G864V	G	-	2	0	CSMD1	3212074	1.000000	0.71417	0.030000	0.17652	0.002000	0.02628	7.635000	0.83286	1.206000	0.43276	-0.259000	0.10710	GGG		PASS	0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		6	12	6	12	---	---	---	---
ADAM7	8756	broad.mit.edu	37	8	24342874	24342874	+	Splice_Site	SNP	G	G	C			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr8:24342874G>C	ENST00000175238.6	+	10	1043	c.960G>C	c.(958-960)aaG>aaC	p.K320N	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Splice_Site_p.K92N|ADAM7_ENST00000380789.1_Splice_Site_p.K320N|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	320	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K320N(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GTATCATTAAGGTGGGCTGTG	0.368																																						uc003xeb.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|kidney(1)	5						c.(958-960)AAG>AAC		a disintegrin and metalloproteinase domain 7							101.0	99.0	100.0					8																	24342874		2203	4300	6503	SO:0001630	splice_region_variant	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24342874G>C	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.960+1G>C	8.37:g.24342874G>C						ADAM7_uc003xec.2_Missense_Mutation_p.K92N	p.K320N	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	10	1073	+		Prostate(55;0.0181)	320			Peptidase M12B.|Extracellular (Potential).		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.960G>C	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342760	0.61073	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.29397	1.57;1.57;1.57	5.59	5.59	0.84812	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000015	T	0.49626	0.1568	L	0.53249	1.67	0.38596	D	0.950554	D;D	0.89917	1.0;1.0	D;D	0.77557	0.986;0.99	T	0.41413	-0.9510	10	0.32370	T	0.25	.	15.1594	0.72771	0.0:0.0:1.0:0.0	.	92;320	E5RK87;Q9H2U9	.;ADAM7_HUMAN	N	320;320;92;135	ENSP00000175238:K320N;ENSP00000370166:K320N;ENSP00000430400:K92N	ENSP00000175238:K320N	K	+	3	2	ADAM7	24398764	1.000000	0.71417	0.997000	0.53966	0.433000	0.31745	4.449000	0.60034	2.649000	0.89929	0.644000	0.83932	AAG		PASS	0.368	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	Missense_Mutation	5	13	5	13	---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43171087	43171087	+	RNA	SNP	G	G	C			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr8:43171087G>C	ENST00000522175.2	+	0	822							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.E320Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TAAAGGAAGTGAAAATAGTCA	0.308																																						uc003xpz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(958-960)GAA>CAA		POTE ankyrin domain family, member A isoform 2							43.0	44.0	44.0					8																	43171087		2053	4245	6298			340441							g.chr8:43171087G>C	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43171087G>C						POTEA_uc003xqa.1_Missense_Mutation_p.E274Q	p.E320Q	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			7	1001	+			320					A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.958G>C																																																																																					PASS	0.308	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		17	39	17	39	---	---	---	---
PSKH2	85481	broad.mit.edu	37	8	87076814	87076814	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr8:87076814C>A	ENST00000276616.2	-	2	306	c.232G>T	c.(232-234)Gtc>Ttc	p.V78F	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	78	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V78F(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TCTACCCTGACAACCCTGCTG	0.448																																						uc011lfy.1																			1	Substitution - Missense(1)		lung(1)	stomach(2)|lung(2)|ovary(1)	5						c.(232-234)GTC>TTC		protein serine kinase H2							88.0	75.0	80.0					8																	87076814		2203	4300	6503	SO:0001583	missense	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87076814C>A	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.232G>T	8.37:g.87076814C>A	ENSP00000276616:p.Val78Phe						p.V78F	NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		2	232	-			78			Protein kinase.		A0AV22	Missense_Mutation	SNP	ENST00000276616.2	37	c.232G>T	CCDS6240.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341569	0.41498	.	.	ENSG00000147613	ENST00000276616	T	0.37752	1.18	5.13	-1.61	0.08399	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.15478	0.0373	N	0.04768	-0.165	0.31750	N	0.634692	B	0.22604	0.072	B	0.26310	0.068	T	0.41448	-0.9508	9	0.14252	T	0.57	.	8.4027	0.32597	0.0:0.3347:0.5087:0.1566	.	78	Q96QS6	KPSH2_HUMAN	F	78	ENSP00000276616:V78F	ENSP00000276616:V78F	V	-	1	0	PSKH2	87145930	0.876000	0.30132	0.675000	0.29917	0.996000	0.88848	1.116000	0.31221	-0.417000	0.07461	0.591000	0.81541	GTC		PASS	0.448	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		29	34	29	34	---	---	---	---
MTERF3	51001	broad.mit.edu	37	8	97263208	97263208	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr8:97263208C>A	ENST00000287025.3	-	4	701	c.603G>T	c.(601-603)gaG>gaT	p.E201D	MTERFD1_ENST00000524341.1_Missense_Mutation_p.E11D|MTERFD1_ENST00000523821.1_Missense_Mutation_p.E201D|MTERFD1_ENST00000522822.1_Missense_Mutation_p.E80D	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		201					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)	p.E201D(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					GTTGGTTATCCTCTATACCCA	0.368																																						uc003yhs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(601-603)GAG>GAT		MTERF domain containing 1 precursor							122.0	124.0	123.0					8																	97263208		2203	4300	6503	SO:0001583	missense	51001				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	g.chr8:97263208C>A																												ENST00000287025.3:c.603G>T	8.37:g.97263208C>A	ENSP00000287025:p.Glu201Asp					MTERFD1_uc003yhr.1_Missense_Mutation_p.E80D|MTERFD1_uc010mbd.1_Missense_Mutation_p.E201D	p.E201D	NM_015942	NP_057026	Q96E29	MTER1_HUMAN			4	681	-	Breast(36;5.16e-05)		201					B3KMG6|G3V130|Q9Y301	Missense_Mutation	SNP	ENST00000287025.3	37	c.603G>T	CCDS6270.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562693	0.45694	.	.	ENSG00000156469	ENST00000523821;ENST00000522822;ENST00000524341;ENST00000287025	T;T;T;T	0.13307	2.79;2.79;2.6;2.79	5.98	-1.96	0.07525	.	0.095743	0.64402	D	0.000001	T	0.13030	0.0316	M	0.67953	2.075	0.46260	D	0.998956	B;B	0.29766	0.256;0.098	B;B	0.26416	0.069;0.035	T	0.10847	-1.0612	10	0.29301	T	0.29	-7.2636	11.8131	0.52194	0.0:0.3359:0.0:0.6641	.	201;201	E5RIK9;Q96E29	.;MTER1_HUMAN	D	201;80;11;201	ENSP00000429400:E201D;ENSP00000430138:E80D;ENSP00000429267:E11D;ENSP00000287025:E201D	ENSP00000287025:E201D	E	-	3	2	MTERFD1	97332384	0.956000	0.32656	0.987000	0.45799	0.976000	0.68499	-0.010000	0.12743	-0.286000	0.09076	0.591000	0.81541	GAG		PASS	0.368	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1			6	81	6	81	---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2039694	2039694	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr9:2039694G>T	ENST00000382203.1	+	4	793	c.584G>T	c.(583-585)gGc>gTc	p.G195V	SMARCA2_ENST00000349721.2_Missense_Mutation_p.G195V|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000382194.1_Missense_Mutation_p.G195V|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Missense_Mutation_p.G195V			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	195	QLQ. {ECO:0000255|PROSITE- ProRule:PRU01001}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.G195V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTGGCCCGAGGCCAGCCCCTC	0.582																																						uc003zhc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(583-585)GGC>GTC		SWI/SNF-related matrix-associated							30.0	33.0	32.0					9																	2039694		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039694G>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.584G>T	9.37:g.2039694G>T	ENSP00000371638:p.Gly195Val					SMARCA2_uc003zhd.2_Missense_Mutation_p.G195V|SMARCA2_uc010mha.2_Missense_Mutation_p.G186V	p.G195V	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	683	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	195					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.584G>T	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021594	0.93462	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	D;D;T;D;D	0.87809	-2.3;-2.29;0.74;-2.3;-2.29	5.6	5.6	0.85130	Glutamine-Leucine-Glutamine, QLQ (2);	0.000000	0.85682	D	0.000000	D	0.92652	0.7665	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.92924	0.6358	10	0.87932	D	0	-10.1223	19.6091	0.95594	0.0:0.0:1.0:0.0	.	195;195	P51531-2;P51531	.;SMCA2_HUMAN	V	195	ENSP00000265773:G195V;ENSP00000349788:G195V;ENSP00000392081:G195V;ENSP00000371638:G195V;ENSP00000371629:G195V	ENSP00000265773:G195V	G	+	2	0	SMARCA2	2029694	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.860000	0.99555	2.650000	0.89964	0.655000	0.94253	GGC		PASS	0.582	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		20	2	20	2	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971035	21971035	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr9:21971035T>C	ENST00000304494.5	-	2	593	c.323A>G	c.(322-324)gAt>gGt	p.D108G	CDKN2A_ENST00000530628.2_Silent_p.R122R|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108G|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57G|CDKN2A_ENST00000579755.1_Silent_p.R122R|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57G|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57G|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57G|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57G|CDKN2A_ENST00000361570.3_Silent_p.R163R|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108G|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108G	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	108			D -> H (in a bladder tumor).|D -> Y (in a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.D108G(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R163R(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCCCAGGCATCGCGCACGTC	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1368	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(5)|Substitution - Missense(2)|Substitution - coding silent(1)	p.0?(1112)|p.D108Y(14)|p.?(13)|p.D108H(9)|p.D108N(5)|p.H83fs*2(2)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|soft_tissue(57)|pleura(51)|oesophagus(51)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(322-324)GAT>GGT		cyclin-dependent kinase inhibitor 2A isoform 1							17.0	19.0	18.0					9																	21971035		2198	4292	6490	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971035T>C	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.323A>G	9.37:g.21971035T>C	ENSP00000307101:p.Asp108Gly	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.R163R	p.D108G	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	535	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	108		D -> Y (in a head and neck tumor).|D -> H (in a bladder tumor).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.323A>G	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.715925	0.89112	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	D;D	0.93953	-3.32;-3.32	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.96775	0.8947	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97240	0.9890	8	0.72032	D	0.01	-14.8146	15.3697	0.74554	0.0:0.0:0.0:1.0	.	108	P42771	CD2A1_HUMAN	G	108	ENSP00000307101:D108G;ENSP00000394932:D108G	ENSP00000307101:D108G	D	-	2	0	CDKN2A	21961035	1.000000	0.71417	0.974000	0.42286	0.662000	0.39071	7.037000	0.76531	2.265000	0.75225	0.533000	0.62120	GAT		PASS	0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		4	1	4	1	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84604698	84604698	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr9:84604698G>T	ENST00000344803.2	+	2	239	c.192G>T	c.(190-192)caG>caT	p.Q64H		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	64					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.Q64H(2)									CTCAGCATCAGGGCAGAGCCA	0.438																																						uc004amn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(190-192)CAG>CAT		hypothetical protein LOC389763							119.0	112.0	114.0					9																	84604698		1942	4139	6081	SO:0001583	missense	389763					integral to membrane		g.chr9:84604698G>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.192G>T	9.37:g.84604698G>T	ENSP00000341988:p.Gln64His						p.Q64H	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			2	239	+			64						Missense_Mutation	SNP	ENST00000344803.2	37	c.192G>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	7.195	0.592350	0.13812	.	.	ENSG00000214929	ENST00000344803	T	0.07444	3.19	2.87	-0.323	0.12709	.	1.961470	0.02465	N	0.086915	T	0.14700	0.0355	L	0.31578	0.945	0.09310	N	1	D	0.76494	0.999	D	0.64237	0.923	T	0.13045	-1.0524	10	0.54805	T	0.06	0.4803	3.1998	0.06646	0.2801:0.2267:0.4932:0.0	.	64	Q6ZQQ2	F75D1_HUMAN	H	64	ENSP00000341988:Q64H	ENSP00000341988:Q64H	Q	+	3	2	FAM75D1	83794518	0.002000	0.14202	0.000000	0.03702	0.010000	0.07245	-0.104000	0.10923	-0.047000	0.13423	0.586000	0.80456	CAG		PASS	0.438	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		23	19	23	19	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84608634	84608634	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr9:84608634G>T	ENST00000344803.2	+	4	3296	c.3249G>T	c.(3247-3249)gaG>gaT	p.E1083D		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1083					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.E1083D(2)									GGACAACAGAGGATGGCAGAC	0.507																																						uc004amn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(3247-3249)GAG>GAT		hypothetical protein LOC389763							45.0	48.0	47.0					9																	84608634		1913	4124	6037	SO:0001583	missense	389763					integral to membrane		g.chr9:84608634G>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3249G>T	9.37:g.84608634G>T	ENSP00000341988:p.Glu1083Asp						p.E1083D	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	3296	+			1083						Missense_Mutation	SNP	ENST00000344803.2	37	c.3249G>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	6.907	0.537011	0.13188	.	.	ENSG00000214929	ENST00000344803	T	0.06294	3.32	2.67	-4.39	0.03611	.	.	.	.	.	T	0.02533	0.0077	N	0.14661	0.345	0.09310	N	1	P	0.44195	0.828	B	0.40375	0.327	T	0.33137	-0.9880	9	0.13108	T	0.6	-0.0069	1.2835	0.02046	0.2415:0.3698:0.2379:0.1508	.	1083	Q6ZQQ2	F75D1_HUMAN	D	1083	ENSP00000341988:E1083D	ENSP00000341988:E1083D	E	+	3	2	FAM75D1	83798454	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.301000	0.08232	-1.011000	0.03391	-0.216000	0.12614	GAG		PASS	0.507	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		5	61	5	61	---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98232095	98232095	+	Splice_Site	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr9:98232095C>A	ENST00000331920.6	-	13	2146	c.1847G>T	c.(1846-1848)aGc>aTc	p.S616I	PTCH1_ENST00000421141.1_Splice_Site_p.S465I|PTCH1_ENST00000429896.2_Splice_Site_p.S465I|PTCH1_ENST00000430669.2_Splice_Site_p.S550I|PTCH1_ENST00000418258.1_Splice_Site_p.S465I|PTCH1_ENST00000437951.1_Splice_Site_p.S550I|PTCH1_ENST00000375274.2_Splice_Site_p.S615I	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	616					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.S616I(2)|p.S615I(2)|p.S616N(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GAAAATGTACCTTGTAAAACA	0.438																																						uc004avk.3																			5	Substitution - Missense(5)	p.S616N(1)	lung(4)|skin(1)	skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(1846-1848)AGC>ATC		patched isoform L							189.0	183.0	185.0					9																	98232095		2203	4300	6503	SO:0001630	splice_region_variant	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98232095C>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1847+1G>T	9.37:g.98232095C>A						PTCH1_uc010mro.2_Missense_Mutation_p.S465I|PTCH1_uc010mrp.2_Missense_Mutation_p.S465I|PTCH1_uc010mrq.2_Missense_Mutation_p.S465I|PTCH1_uc004avl.3_Missense_Mutation_p.S465I|PTCH1_uc010mrr.2_Missense_Mutation_p.S550I|PTCH1_uc004avm.3_Missense_Mutation_p.S615I|PTCH1_uc010mrs.1_Missense_Mutation_p.S284I	p.S616I	NM_000264	NP_000255	Q13635	PTC1_HUMAN			13	2035	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	616			Cytoplasmic (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.1847G>T	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429644	0.62844	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.91124	-2.75;-2.74;-2.73;-2.73;-2.74;-2.73;-2.76;-2.79	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.87022	0.6074	L	0.41027	1.25	0.80722	D	1	B;B;B;B	0.30104	0.018;0.023;0.268;0.014	B;B;B;B	0.28232	0.085;0.087;0.085;0.062	T	0.83265	-0.0046	9	.	.	.	-27.0046	19.3137	0.94202	0.0:1.0:0.0:0.0	.	465;550;615;616	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	I	616;550;465;465;52;550;465;615;281	ENSP00000332353:S616I;ENSP00000389744:S550I;ENSP00000399981:S465I;ENSP00000396135:S465I;ENSP00000410287:S550I;ENSP00000414823:S465I;ENSP00000364423:S615I;ENSP00000364420:S281I	.	S	-	2	0	PTCH1	97271916	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.637000	0.67854	2.788000	0.95919	0.650000	0.86243	AGC		PASS	0.438	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	Missense_Mutation	7	252	7	252	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107565591	107565591	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr9:107565591C>A	ENST00000374736.3	-	33	4960	c.4566G>T	c.(4564-4566)aaG>aaT	p.K1522N		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1522					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.K1522N(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGATCTTGTTCTTTAAGCTGC	0.408																																						uc004bcl.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(4564-4566)AAG>AAT		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						217.0	208.0	211.0					9																	107565591		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107565591C>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4566G>T	9.37:g.107565591C>A	ENSP00000363868:p.Lys1522Asn						p.K1522N	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	33	4879	-			1522			Extracellular.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.4566G>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239718	0.58995	.	.	ENSG00000165029	ENST00000374736	D	0.95307	-3.67	6.17	4.34	0.51931	.	0.044211	0.85682	D	0.000000	D	0.93216	0.7839	L	0.59436	1.845	0.80722	D	1	B	0.24675	0.109	B	0.34418	0.182	D	0.90670	0.4597	10	0.66056	D	0.02	.	11.7204	0.51678	0.0:0.8632:0.0:0.1368	.	1522	O95477	ABCA1_HUMAN	N	1522	ENSP00000363868:K1522N	ENSP00000363868:K1522N	K	-	3	2	ABCA1	106605412	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.855000	0.39378	0.938000	0.37419	0.655000	0.94253	AAG		PASS	0.408	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		6	185	6	185	---	---	---	---
VAV2	7410	broad.mit.edu	37	9	136661648	136661648	+	Splice_Site	SNP	T	T	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr9:136661648T>A	ENST00000371850.3	-	11	968		c.e11-2		VAV2_ENST00000406606.3_Splice_Site|VAV2_ENST00000371851.1_Splice_Site	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor						angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(2)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TGTGCACTCCTGGGAGGGCGA	0.597																																						uc004ces.2																			2	Unknown(2)		lung(2)	central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.e11-1		vav 2 guanine nucleotide exchange factor isoform							78.0	66.0	70.0					9																	136661648		2203	4300	6503	SO:0001630	splice_region_variant	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136661648T>A		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.937-2A>T	9.37:g.136661648T>A						VAV2_uc004cer.2_Splice_Site_p.E308_splice	p.E313_splice	NM_001134398	NP_001127870	P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	11	983	-								A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Splice_Site	SNP	ENST00000371850.3	37	c.937_splice	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.238020	0.39598	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.649	0.62299	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	VAV2	135651469	1.000000	0.71417	0.897000	0.35233	0.109000	0.19521	7.480000	0.81109	1.697000	0.51169	0.379000	0.24179	.		PASS	0.597	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1		Intron	7	3	7	3	---	---	---	---
NRP1	8829	broad.mit.edu	37	10	33502401	33502401	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr10:33502401C>A	ENST00000265371.4	-	10	2052	c.1527G>T	c.(1525-1527)aaG>aaT	p.K509N	RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374875.1_Missense_Mutation_p.K328N|NRP1_ENST00000395995.1_Missense_Mutation_p.K509N|NRP1_ENST00000374823.5_Missense_Mutation_p.K509N|NRP1_ENST00000374822.4_Missense_Mutation_p.K509N|NRP1_ENST00000374816.3_Missense_Mutation_p.K509N|NRP1_ENST00000432372.2_Missense_Mutation_p.K509N|NRP1_ENST00000374867.2_Missense_Mutation_p.K509N|NRP1_ENST00000374821.5_Missense_Mutation_p.K509N			O14786	NRP1_HUMAN	neuropilin 1	509	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.K509N(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TCATGAACACCTTGTTCTCTC	0.532																																					Melanoma(104;886 1489 44640 45944 51153)	uc001iwx.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1525-1527)AAG>AAT		neuropilin 1 isoform a	Palifermin(DB00039)|Pegaptanib(DB04895)						246.0	209.0	221.0					10																	33502401		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33502401C>A	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1527G>T	10.37:g.33502401C>A	ENSP00000265371:p.Lys509Asn					NRP1_uc001iwv.3_Missense_Mutation_p.K509N|NRP1_uc009xlz.2_Missense_Mutation_p.K509N|NRP1_uc001iww.3_Missense_Mutation_p.K328N|NRP1_uc001iwy.3_Missense_Mutation_p.K509N|NRP1_uc001iwz.2_Missense_Mutation_p.K509N|NRP1_uc001ixa.2_Missense_Mutation_p.K509N|NRP1_uc001ixb.1_Missense_Mutation_p.K509N|NRP1_uc001ixc.1_Missense_Mutation_p.K509N	p.K509N	NM_003873	NP_003864	O14786	NRP1_HUMAN			9	2050	-			509			Extracellular (Potential).|F5/8 type C 2.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.1527G>T	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931038	0.52866	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000432372	D;D;D;D;D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15	5.95	3.1	0.35709	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.96769	0.8945	N	0.10685	0.025	0.58432	D	0.999996	B;B;B;B;D;D;B;B;B	0.89917	0.095;0.161;0.175;0.024;1.0;1.0;0.175;0.175;0.022	B;B;B;B;D;D;B;B;B	0.83275	0.078;0.078;0.136;0.1;0.993;0.996;0.036;0.165;0.007	D	0.93366	0.6731	10	0.23891	T	0.37	-27.4458	7.8596	0.29501	0.0:0.5729:0.0:0.4271	.	509;509;509;509;509;509;509;328;509	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.;.	N	509;328;509;509;509;509;509;509;182	ENSP00000265371:K509N;ENSP00000364009:K328N;ENSP00000364001:K509N;ENSP00000379317:K509N;ENSP00000363955:K509N;ENSP00000363954:K509N;ENSP00000363956:K509N;ENSP00000363949:K509N;ENSP00000408911:K182N	ENSP00000265371:K509N	K	-	3	2	NRP1	33542407	0.924000	0.31332	1.000000	0.80357	0.985000	0.73830	0.055000	0.14229	0.403000	0.25479	0.655000	0.94253	AAG		PASS	0.532	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			6	102	6	102	---	---	---	---
MBL2	4153	broad.mit.edu	37	10	54531335	54531335	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr10:54531335C>A	ENST00000373968.3	-	1	125	c.61G>T	c.(61-63)Gaa>Taa	p.E21*		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	21	Cys-rich.				acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)	p.E21*(1)		breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GTCACAGTTTCTGAGTAAGAC	0.532																																						uc001jjt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(61-63)GAA>TAA		soluble mannose-binding lectin precursor							94.0	86.0	89.0					10																	54531335		2203	4300	6503	SO:0001587	stop_gained	4153				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding	g.chr10:54531335C>A	AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"""Collectins"""	6922	protein-coding gene	gene with protein product		154545	"""mannose-binding lectin (protein C) 2, soluble (opsonic defect)"""	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.61G>T	10.37:g.54531335C>A	ENSP00000363079:p.Glu21*						p.E21*	NM_000242	NP_000233	P11226	MBL2_HUMAN			1	126	-			21			Cys-rich.		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Nonsense_Mutation	SNP	ENST00000373968.3	37	c.61G>T	CCDS7247.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511499	0.85389	.	.	ENSG00000165471	ENST00000373968	.	.	.	4.16	4.16	0.48862	.	0.470705	0.19907	N	0.103375	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-27.4477	12.2653	0.54674	0.0:1.0:0.0:0.0	.	.	.	.	X	21	.	ENSP00000363079:E21X	E	-	1	0	MBL2	54201341	0.629000	0.27146	0.648000	0.29521	0.014000	0.08584	3.059000	0.49947	2.580000	0.87095	0.655000	0.94253	GAA		PASS	0.532	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		6	14	6	14	---	---	---	---
PDZD8	118987	broad.mit.edu	37	10	119044409	119044409	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr10:119044409G>T	ENST00000334464.5	-	5	2074	c.1835C>A	c.(1834-1836)cCa>cAa	p.P612Q	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	612	Pro-rich.				cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.P612Q(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GAGAACATCTGGTTCTGCCTG	0.483																																						uc001lde.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1834-1836)CCA>CAA		PDZ domain containing 8							125.0	124.0	125.0					10																	119044409		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119044409G>T	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.1835C>A	10.37:g.119044409G>T	ENSP00000334642:p.Pro612Gln						p.P612Q	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	2034	-		Colorectal(252;0.19)	612			Pro-rich.		Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.1835C>A	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153627	0.38021	.	.	ENSG00000165650	ENST00000334464	D	0.85258	-1.96	5.93	5.93	0.95920	.	0.572004	0.19133	N	0.121882	T	0.81889	0.4918	N	0.24115	0.695	0.39127	D	0.961775	P	0.49961	0.93	P	0.44860	0.462	D	0.84819	0.0795	10	0.72032	D	0.01	-1.624	20.3495	0.98807	0.0:0.0:1.0:0.0	.	612	Q8NEN9	PDZD8_HUMAN	Q	612	ENSP00000334642:P612Q	ENSP00000334642:P612Q	P	-	2	0	PDZD8	119034399	0.981000	0.34729	0.973000	0.42090	0.799000	0.45148	3.173000	0.50839	2.814000	0.96858	0.591000	0.81541	CCA		PASS	0.483	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		5	65	5	65	---	---	---	---
EIF3A	8661	broad.mit.edu	37	10	120810778	120810778	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr10:120810778G>T	ENST00000369144.3	-	15	2379	c.2252C>A	c.(2251-2253)tCa>tAa	p.S751*	EIF3A_ENST00000541549.1_Nonsense_Mutation_p.S717*	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.S751*(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AAGCATTCGTGACATTCGATT	0.363																																						uc001ldu.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(2251-2253)TCA>TAA		eukaryotic translation initiation factor 3,							159.0	144.0	149.0					10																	120810778		2203	4300	6503	SO:0001587	stop_gained	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120810778G>T	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.2252C>A	10.37:g.120810778G>T	ENSP00000358140:p.Ser751*					EIF3A_uc010qsu.1_Nonsense_Mutation_p.S717*|EIF3A_uc009xzg.1_5'Flank	p.S751*	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	15	2398	-		Lung NSC(174;0.094)|all_lung(145;0.123)	751			Interaction with EIF3B.|Glu-rich.		B7ZBG9|Q6IBN8|Q96TD5	Nonsense_Mutation	SNP	ENST00000369144.3	37	c.2252C>A	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	41	9.146031	0.99080	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	.	.	.	5.36	5.36	0.76844	.	0.000000	0.31648	U	0.007292	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9513	19.1465	0.93471	0.0:0.0:1.0:0.0	.	.	.	.	X	751;717	.	ENSP00000358140:S751X	S	-	2	0	EIF3A	120800768	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.336000	0.72954	2.523000	0.85059	0.405000	0.27470	TCA		PASS	0.363	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		5	53	5	53	---	---	---	---
STIM1	6786	broad.mit.edu	37	11	4104567	4104567	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr11:4104567G>C	ENST00000300737.4	+	10	1882	c.1313G>C	c.(1312-1314)gGc>gCc	p.G438A	STIM1_ENST00000527651.1_Missense_Mutation_p.G438A|STIM1_ENST00000533977.1_Missense_Mutation_p.G265A	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	438	SOAR/CAD.				activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)	p.G438A(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		ATCCTCTGTGGCTTCCAGATT	0.582																																						uc001lyv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1312-1314)GGC>GCC		stromal interaction molecule 1 precursor							95.0	85.0	89.0					11																	4104567		2201	4298	6499	SO:0001583	missense	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:4104567G>C	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1313G>C	11.37:g.4104567G>C	ENSP00000300737:p.Gly438Ala					STIM1_uc009yef.2_Missense_Mutation_p.G438A|STIM1_uc009yeg.2_Missense_Mutation_p.G265A	p.G438A	NM_003156	NP_003147	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	10	1881	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	438			Cytoplasmic (Potential).		E9PQJ4|Q8N382	Missense_Mutation	SNP	ENST00000300737.4	37	c.1313G>C	CCDS7749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.300076|4.300076	0.81136|0.81136	.|.	.|.	ENSG00000167323|ENSG00000167323	ENST00000526596|ENST00000300737;ENST00000527651;ENST00000533977	.|T;D;T	.|0.84944	.|-0.9;-1.92;-0.87	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91408|0.91408	0.7289|0.7289	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|P;D	.|0.76494	.|0.908;0.999	.|B;D	.|0.66351	.|0.192;0.943	D|D	0.91826|0.91826	0.5471|0.5471	5|10	.|0.87932	.|D	.|0	-32.033|-32.033	18.7957|18.7957	0.91993|0.91993	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|438;438	.|E9PQJ4;Q13586	.|.;STIM1_HUMAN	P|A	169|438;438;265	.|ENSP00000300737:G438A;ENSP00000436208:G438A;ENSP00000434767:G265A	.|ENSP00000300737:G438A	A|G	+|+	1|2	0|0	STIM1|STIM1	4061143|4061143	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.554000|7.554000	0.82212|0.82212	2.698000|2.698000	0.92095|0.92095	0.557000|0.557000	0.71058|0.71058	GCT|GGC		PASS	0.582	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		13	28	13	28	---	---	---	---
TRIM68	55128	broad.mit.edu	37	11	4624558	4624558	+	Missense_Mutation	SNP	C	C	T	rs377284065		TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr11:4624558C>T	ENST00000300747.5	-	3	728	c.439G>A	c.(439-441)Gag>Aag	p.E147K		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	147					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E147K(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCGAGGGCCTCATGAAGTTCC	0.552																																						uc001lzf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(439-441)GAG>AAG		ring finger protein 137		C	LYS/GLU	0,4402		0,0,2201	125.0	111.0	116.0		439	1.7	0.7	11		116	1,8595	1.2+/-3.3	0,1,4297	no	missense	TRIM68	NM_018073.5	56	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign	147/486	4624558	1,12997	2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4624558C>T	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.439G>A	11.37:g.4624558C>T	ENSP00000300747:p.Glu147Lys					TRIM68_uc001lzg.1_5'UTR|TRIM68_uc010qyj.1_RNA|TRIM68_uc009yek.1_Missense_Mutation_p.E147K	p.E147K	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	3	677	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	147					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.439G>A	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	C	7.531	0.658670	0.14645	0.0	1.16E-4	ENSG00000167333	ENST00000300747	T	0.56776	0.44	4.76	1.68	0.24146	.	0.164422	0.29046	N	0.013302	T	0.31949	0.0813	L	0.35414	1.06	0.23113	N	0.998273	B	0.11235	0.004	B	0.12837	0.008	T	0.25882	-1.0119	10	0.05833	T	0.94	.	7.077	0.25209	0.0:0.5767:0.3284:0.0949	.	147	Q6AZZ1	TRI68_HUMAN	K	147	ENSP00000300747:E147K	ENSP00000300747:E147K	E	-	1	0	TRIM68	4581134	0.008000	0.16893	0.728000	0.30774	0.990000	0.78478	0.119000	0.15626	0.246000	0.21394	0.561000	0.74099	GAG		PASS	0.552	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		15	25	15	25	---	---	---	---
SYT9	143425	broad.mit.edu	37	11	7335113	7335113	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr11:7335113G>C	ENST00000318881.6	+	3	1222	c.985G>C	c.(985-987)Gac>Cac	p.D329H	SYT9_ENST00000396716.2_Missense_Mutation_p.D297H	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	329					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.D329H(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TCACTTCCTAGACTTGGCTGA	0.478																																						uc001mfe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(985-987)GAC>CAC		synaptotagmin IX							176.0	171.0	173.0					11																	7335113		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7335113G>C	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.985G>C	11.37:g.7335113G>C	ENSP00000324419:p.Asp329His					SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron	p.D329H	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	3	1222	+			329			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000318881.6	37	c.985G>C	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883819	0.72410	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.58797	0.31;0.33	5.97	5.06	0.68205	C2 calcium-dependent membrane targeting (1);	0.241555	0.36628	N	0.002489	T	0.63200	0.2491	M	0.68593	2.085	0.58432	D	0.999997	P	0.43885	0.82	P	0.48270	0.572	T	0.63804	-0.6554	9	.	.	.	.	12.7317	0.57201	0.0789:0.0:0.9211:0.0	.	329	Q86SS6	SYT9_HUMAN	H	297;329	ENSP00000379944:D297H;ENSP00000324419:D329H	.	D	+	1	0	SYT9	7291689	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	1.529000	0.49120	0.655000	0.94253	GAC		PASS	0.478	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		35	82	35	82	---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22239812	22239812	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr11:22239812G>T	ENST00000324559.8	+	4	476	c.159G>T	c.(157-159)ttG>ttT	p.L53F		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	53					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.L53F(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GATTCAATTTGTTCCTGAGGC	0.403																																						uc001mqi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(157-159)TTG>TTT		anoctamin 5 isoform a							136.0	126.0	130.0					11																	22239812		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22239812G>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.159G>T	11.37:g.22239812G>T	ENSP00000315371:p.Leu53Phe					ANO5_uc001mqj.2_Missense_Mutation_p.L52F	p.L53F	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			4	476	+			53			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.159G>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660143	0.88154	.	.	ENSG00000171714	ENST00000324559	T	0.73897	-0.79	5.87	5.87	0.94306	.	0.335667	0.29260	N	0.012666	T	0.81375	0.4809	L	0.28694	0.88	0.42529	D	0.993037	D	0.76494	0.999	D	0.85130	0.997	T	0.81915	-0.0714	10	0.56958	D	0.05	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	53	Q75V66	ANO5_HUMAN	F	53	ENSP00000315371:L53F	ENSP00000315371:L53F	L	+	3	2	ANO5	22196388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.400000	0.73252	2.780000	0.95670	0.655000	0.94253	TTG		PASS	0.403	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		16	17	16	17	---	---	---	---
ANO3	63982	broad.mit.edu	37	11	26621132	26621132	+	Silent	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr11:26621132G>T	ENST00000256737.3	+	17	2559	c.1707G>T	c.(1705-1707)gtG>gtT	p.V569V	ANO3_ENST00000525139.1_Silent_p.V553V|ANO3_ENST00000531568.1_Silent_p.V423V|ANO3_ENST00000537978.1_Silent_p.V553V	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	569					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.V569V(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTGGAGTTGTGGTGTACCGCC	0.398																																						uc001mqt.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1705-1707)GTG>GTT		transmembrane protein 16C							318.0	275.0	289.0					11																	26621132		2203	4299	6502	SO:0001819	synonymous_variant	63982					chloride channel complex	chloride channel activity	g.chr11:26621132G>T	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1707G>T	11.37:g.26621132G>T						ANO3_uc010rdr.1_Silent_p.V553V|ANO3_uc010rds.1_Silent_p.V408V|ANO3_uc010rdt.1_Silent_p.V423V	p.V569V	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			17	1852	+			569			Helical; (Potential).		B7Z3F5	Silent	SNP	ENST00000256737.3	37	c.1707G>T	CCDS31447.1																																																																																				PASS	0.398	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		5	57	5	57	---	---	---	---
PRR5L	79899	broad.mit.edu	37	11	36484109	36484109	+	Silent	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr11:36484109G>T	ENST00000378867.3	+	10	1285	c.930G>T	c.(928-930)tcG>tcT	p.S310S	PRR5L_ENST00000311599.5_Silent_p.S237S|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Silent_p.S310S	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	310					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)	p.S310S(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						TGATGCACTCGGGCCTGGGGG	0.667																																						uc001mwo.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(928-930)TCG>TCT		protor-2 isoform a							34.0	33.0	33.0					11																	36484109		2202	4297	6499	SO:0001819	synonymous_variant	79899							g.chr11:36484109G>T		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.930G>T	11.37:g.36484109G>T						PRR5L_uc001mwp.2_Silent_p.S310S|PRR5L_uc009ykk.2_Silent_p.S182S|PRR5L_uc010rfc.1_3'UTR	p.S310S	NM_001160167	NP_001153639	Q6MZQ0	PRR5L_HUMAN			9	1319	+			310					A4QN22|E9PKY1|Q96H46|Q9H7V4	Silent	SNP	ENST00000378867.3	37	c.930G>T	CCDS31463.1																																																																																				PASS	0.667	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		3	2	3	2	---	---	---	---
OR4C16	219428	broad.mit.edu	37	11	55339800	55339800	+	Nonsense_Mutation	SNP	T	T	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr11:55339800T>A	ENST00000314634.3	+	1	197	c.197T>A	c.(196-198)tTa>tAa	p.L66*		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L66*(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TACTTATCCTTATCTGATACT	0.413																																						uc010rih.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(196-198)TTA>TAA		olfactory receptor, family 4, subfamily C,							276.0	251.0	259.0					11																	55339800		2201	4296	6497	SO:0001587	stop_gained	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339800T>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.197T>A	11.37:g.55339800T>A	ENSP00000324913:p.Leu66*						p.L66*	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	197	+		all_epithelial(135;0.0748)	66			Helical; Name=2; (Potential).		Q6IEV8	Nonsense_Mutation	SNP	ENST00000314634.3	37	c.197T>A	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.342656	0.41498	.	.	ENSG00000181935	ENST00000314634	.	.	.	4.98	3.82	0.43975	.	0.393410	0.21514	N	0.073337	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	9.054	0.36394	0.0:0.0901:0.0:0.9099	.	.	.	.	X	66	.	ENSP00000324913:L66X	L	+	2	0	OR4C16	55096376	0.092000	0.21681	0.321000	0.25320	0.555000	0.35460	2.962000	0.49176	2.097000	0.63578	0.448000	0.29417	TTA		PASS	0.413	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		26	71	26	71	---	---	---	---
OR4P4	81300	broad.mit.edu	37	11	55406117	55406117	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr11:55406117G>C	ENST00000314612.2	+	1	284	c.284G>C	c.(283-285)tGt>tCt	p.C95S		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C95S(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TATAATAACTGTATGATACAA	0.438																																						uc010rij.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(283-285)TGT>TCT		olfactory receptor, family 4, subfamily P,							120.0	103.0	109.0					11																	55406117		2179	4021	6200	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406117G>C	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.284G>C	11.37:g.55406117G>C	ENSP00000324831:p.Cys95Ser						p.C95S	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	284	+			95			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000314612.2	37	c.284G>C	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688783	0.48097	.	.	ENSG00000181927	ENST00000314612	T	0.00540	6.7	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000435	T	0.04634	0.0126	H	0.98155	4.16	0.58432	D	0.999993	D	0.63046	0.992	D	0.63033	0.91	T	0.02232	-1.1191	10	0.87932	D	0	-11.6028	17.2837	0.87135	0.0:0.0:1.0:0.0	.	95	Q8NGL7	OR4P4_HUMAN	S	95	ENSP00000324831:C95S	ENSP00000324831:C95S	C	+	2	0	OR4P4	55162693	1.000000	0.71417	0.121000	0.21740	0.002000	0.02628	4.649000	0.61433	2.395000	0.81488	0.637000	0.83480	TGT		PASS	0.438	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		32	44	32	44	---	---	---	---
OR5D16	390144	broad.mit.edu	37	11	55607001	55607001	+	Silent	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr11:55607001C>A	ENST00000378396.1	+	1	774	c.774C>A	c.(772-774)ctC>ctA	p.L258L		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L258L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GCACCATCCTCTTCCTCTACT	0.532																																						uc010rio.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(772-774)CTC>CTA		olfactory receptor, family 5, subfamily D,							119.0	106.0	110.0					11																	55607001		2201	4296	6497	SO:0001819	synonymous_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55607001C>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.774C>A	11.37:g.55607001C>A							p.L258L	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	774	+		all_epithelial(135;0.208)	258			Helical; Name=6; (Potential).		Q6IF65|Q96RB4	Silent	SNP	ENST00000378396.1	37	c.774C>A	CCDS31512.1																																																																																				PASS	0.532	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		5	57	5	57	---	---	---	---
OR5B21	219968	broad.mit.edu	37	11	58274946	58274946	+	Silent	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr11:58274946G>T	ENST00000360374.2	-	1	632	c.633C>A	c.(631-633)atC>atA	p.I211I		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I211I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAGAAATAAGGATGACCAGGA	0.488																																						uc010rki.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(631-633)ATC>ATA		olfactory receptor, family 5, subfamily B,							60.0	59.0	59.0					11																	58274946		2201	4295	6496	SO:0001819	synonymous_variant	219968				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58274946G>T		CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.633C>A	11.37:g.58274946G>T							p.I211I	NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN			1	633	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	211			Helical; Name=5; (Potential).			Silent	SNP	ENST00000360374.2	37	c.633C>A	CCDS31552.1																																																																																				PASS	0.488	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218		11	17	11	17	---	---	---	---
MS4A3	932	broad.mit.edu	37	11	59834551	59834551	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr11:59834551C>T	ENST00000278865.3	+	5	552	c.479C>T	c.(478-480)cCg>cTg	p.P160L	MS4A3_ENST00000358152.2_Missense_Mutation_p.P114L|MS4A3_ENST00000395032.2_Missense_Mutation_p.P37L|MS4A3_ENST00000534744.1_Missense_Mutation_p.P114L	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	160						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.P160L(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TCAGAGTCACCGGACCTATGC	0.358																																						uc001nom.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(478-480)CCG>CTG		membrane-spanning 4-domains, subfamily A, member							77.0	68.0	71.0					11																	59834551		2201	4295	6496	SO:0001583	missense	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59834551C>T	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.479C>T	11.37:g.59834551C>T	ENSP00000278865:p.Pro160Leu					MS4A3_uc001non.2_Missense_Mutation_p.P114L|MS4A3_uc001noo.2_Missense_Mutation_p.P37L	p.P160L	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN			5	607	+		all_epithelial(135;0.245)	160			Extracellular (Potential).		A8MTP8|Q8NHW2	Missense_Mutation	SNP	ENST00000278865.3	37	c.479C>T	CCDS31567.1	.	.	.	.	.	.	.	.	.	.	C	5.811	0.334011	0.11013	.	.	ENSG00000149516	ENST00000395032;ENST00000358152;ENST00000278865;ENST00000534744	T;T;T;T	0.02280	4.36;4.36;4.36;4.36	4.21	3.33E-4	0.14042	.	1.277870	0.05115	N	0.489625	T	0.01870	0.0059	L	0.35723	1.085	0.09310	N	1	B;B	0.27971	0.163;0.196	B;B	0.18561	0.013;0.022	T	0.48222	-0.9054	10	0.11182	T	0.66	-3.1709	3.316	0.07034	0.3542:0.442:0.0:0.2039	.	114;160	Q96HJ5-2;Q96HJ5	.;MS4A3_HUMAN	L	37;114;160;114	ENSP00000378473:P37L;ENSP00000350872:P114L;ENSP00000278865:P160L;ENSP00000434117:P114L	ENSP00000278865:P160L	P	+	2	0	MS4A3	59591127	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.084000	0.03393	-0.187000	0.10516	-0.471000	0.05019	CCG		PASS	0.358	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			6	7	6	7	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62291567	62291567	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr11:62291567T>G	ENST00000378024.4	-	5	10596	c.10322A>C	c.(10321-10323)gAa>gCa	p.E3441A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3441					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.E3441A(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAAGTCACCTTCTAAATTGGG	0.413																																						uc001ntl.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(10321-10323)GAA>GCA		AHNAK nucleoprotein isoform 1							69.0	72.0	71.0					11																	62291567		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62291567T>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10322A>C	11.37:g.62291567T>G	ENSP00000367263:p.Glu3441Ala					AHNAK_uc001ntk.1_Intron	p.E3441A	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	10622	-		Melanoma(852;0.155)	3441					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.10322A>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	11.26	1.587067	0.28268	.	.	ENSG00000124942	ENST00000378024	T	0.01787	4.64	4.51	3.38	0.38709	.	.	.	.	.	T	0.11239	0.0274	M	0.91140	3.18	0.38208	D	0.940392	D	0.67145	0.996	D	0.77557	0.99	T	0.03910	-1.0993	9	0.33940	T	0.23	.	9.7295	0.40352	0.0:0.0843:0.0:0.9157	.	3441	Q09666	AHNK_HUMAN	A	3441	ENSP00000367263:E3441A	ENSP00000367263:E3441A	E	-	2	0	AHNAK	62048143	0.887000	0.30362	0.804000	0.32291	0.031000	0.12232	2.580000	0.46068	0.711000	0.32018	0.235000	0.17854	GAA		PASS	0.413	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		18	33	18	33	---	---	---	---
PLCB3	5331	broad.mit.edu	37	11	64026124	64026124	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr11:64026124G>T	ENST00000540288.1	+	11	1295	c.1192G>T	c.(1192-1194)Gag>Tag	p.E398*	PLCB3_ENST00000325234.5_Nonsense_Mutation_p.E331*|PLCB3_ENST00000279230.6_Nonsense_Mutation_p.E398*	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	398	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.E398*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GGCCATTGCCGAGACTGCCTT	0.627																																						uc001nzb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1192-1194)GAG>TAG		phospholipase C beta 3							123.0	101.0	108.0					11																	64026124		2201	4297	6498	SO:0001587	stop_gained	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64026124G>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1192G>T	11.37:g.64026124G>T	ENSP00000443631:p.Glu398*					PLCB3_uc009ypg.1_Nonsense_Mutation_p.E398*|PLCB3_uc009yph.1_Nonsense_Mutation_p.E331*|PLCB3_uc009ypi.2_Nonsense_Mutation_p.E398*	p.E398*	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			11	1192	+			398			PI-PLC X-box.		A5PKZ6|G5E960|Q8N1A4	Nonsense_Mutation	SNP	ENST00000540288.1	37	c.1192G>T	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856403	0.91355	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	.	.	.	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	16.4309	0.83841	0.0:0.0:1.0:0.0	.	.	.	.	X	398;398;331	.	ENSP00000279230:E398X	E	+	1	0	PLCB3	63782700	1.000000	0.71417	0.278000	0.24718	0.293000	0.27360	6.642000	0.74329	2.182000	0.69389	0.305000	0.20034	GAG		PASS	0.627	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			4	48	4	48	---	---	---	---
ANO1	55107	broad.mit.edu	37	11	70003075	70003075	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr11:70003075G>T	ENST00000355303.5	+	16	1831	c.1526G>T	c.(1525-1527)tGg>tTg	p.W509L	ANO1_ENST00000538023.1_Missense_Mutation_p.W509L|ANO1_ENST00000531349.1_Missense_Mutation_p.W218L|ANO1_ENST00000530676.1_Missense_Mutation_p.W363L|ANO1_ENST00000398543.2_Missense_Mutation_p.W363L|ANO1_ENST00000316296.5_Missense_Mutation_p.W451L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	509					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.W509L(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	AAGCTGACATGGAGAGATCGG	0.498																																						uc001opj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1525-1527)TGG>TTG		anoctamin 1, calcium activated chloride channel							134.0	131.0	132.0					11																	70003075		2138	4258	6396	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70003075G>T	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1526G>T	11.37:g.70003075G>T	ENSP00000347454:p.Trp509Leu					ANO1_uc001opk.1_Missense_Mutation_p.W451L|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.W218L	p.W509L	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			16	1831	+			509			Cytoplasmic (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.1526G>T	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125657	0.56721	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349;ENST00000531300	T;T;T;T;T;T;D	0.87179	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-2.22	5.5	5.5	0.81552	.	0.144339	0.49305	D	0.000149	D	0.85301	0.5665	L	0.27975	0.815	0.58432	D	0.999999	B;P;P	0.40083	0.372;0.702;0.629	B;B;P	0.47251	0.209;0.255;0.542	T	0.83001	-0.0177	9	.	.	.	.	19.0049	0.92846	0.0:0.0:1.0:0.0	.	218;451;509	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	L	509;509;363;267;451;363;218;60	ENSP00000347454:W509L;ENSP00000444689:W509L;ENSP00000381551:W363L;ENSP00000319477:W451L;ENSP00000435797:W363L;ENSP00000432843:W218L;ENSP00000435868:W60L	.	W	+	2	0	ANO1	69680723	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.530000	0.81962	2.581000	0.87130	0.655000	0.94253	TGG		PASS	0.498	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		6	147	6	147	---	---	---	---
CTTN	2017	broad.mit.edu	37	11	70277370	70277370	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr11:70277370C>A	ENST00000301843.8	+	15	1456	c.1250C>A	c.(1249-1251)tCg>tAg	p.S417*	CTTN_ENST00000538675.1_Nonsense_Mutation_p.S101*|CTTN_ENST00000346329.3_Nonsense_Mutation_p.S380*|CTTN_ENST00000376561.3_Nonsense_Mutation_p.S380*	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	417					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)		p.S417*(2)|p.S380*(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AGGCTGCCCTCGAGCCCCGTC	0.567																																						uc001opv.3																			3	Substitution - Nonsense(3)		lung(3)	ovary(1)	1						c.(1249-1251)TCG>TAG		cortactin isoform a							103.0	118.0	113.0					11																	70277370		2200	4294	6494	SO:0001587	stop_gained	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70277370C>A	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1250C>A	11.37:g.70277370C>A	ENSP00000301843:p.Ser417*					CTTN_uc001opu.2_Nonsense_Mutation_p.S380*|CTTN_uc001opw.3_Nonsense_Mutation_p.S380*|CTTN_uc010rqm.1_Nonsense_Mutation_p.S101*|CTTN_uc001opx.2_Nonsense_Mutation_p.S101*	p.S417*	NM_005231	NP_005222	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	15	1456	+			417					Q8N707|Q96H99	Nonsense_Mutation	SNP	ENST00000301843.8	37	c.1250C>A	CCDS41680.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380661	0.82792	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561;ENST00000538675;ENST00000529736	.	.	.	4.99	4.06	0.47325	.	0.418750	0.21078	N	0.080536	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-9.0165	10.3889	0.44156	0.152:0.7016:0.1464:0.0	.	.	.	.	X	380;417;380;101;74	.	ENSP00000301843:S417X	S	+	2	0	CTTN	69955018	0.007000	0.16637	0.004000	0.12327	0.003000	0.03518	2.192000	0.42649	1.087000	0.41251	0.552000	0.68991	TCG		PASS	0.567	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		5	151	5	151	---	---	---	---
CBL	867	broad.mit.edu	37	11	119103295	119103295	+	Silent	SNP	A	A	G			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr11:119103295A>G	ENST00000264033.4	+	2	709	c.333A>G	c.(331-333)gaA>gaG	p.E111E		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	111	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E111E(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CACTTGGAGAAAATGAGTATT	0.393			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													uc001pwe.2				"""Dom, Rec"""	yes		11	11q23.3	867		Cas-Br-M (murine) ecotropic retroviral transforming			L					1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149						c.(331-333)GAA>GAG		Cas-Br-M (murine) ecotropic retroviral							110.0	106.0	107.0					11																	119103295		2199	4295	6494	SO:0001819	synonymous_variant	867	CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119103295A>G	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.333A>G	11.37:g.119103295A>G							p.E111E	NM_005188	NP_005179	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	2	471	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	111			Cbl-PTB.|4H.		A3KMP8	Silent	SNP	ENST00000264033.4	37	c.333A>G	CCDS8418.1																																																																																				PASS	0.393	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		25	43	25	43	---	---	---	---
C11orf63	79864	broad.mit.edu	37	11	122828115	122828115	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr11:122828115G>T	ENST00000531316.1	+	7	2147	c.2055G>T	c.(2053-2055)aaG>aaT	p.K685N	C11orf63_ENST00000227349.2_Missense_Mutation_p.K685N			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	685					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)			p.K685N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AACAAGTCAAGGAGTACAACA	0.373																																						uc001pym.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2053-2055)AAG>AAT		hypothetical protein LOC79864 isoform 1							133.0	119.0	124.0					11																	122828115		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122828115G>T	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.2055G>T	11.37:g.122828115G>T	ENSP00000431669:p.Lys685Asn						p.K685N	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	8	2352	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	685					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.2055G>T	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329021	0.60743	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	T;T	0.54279	0.58;0.58	5.71	2.82	0.32997	.	0.242065	0.35291	N	0.003311	T	0.66416	0.2787	M	0.72118	2.19	0.39504	D	0.968253	D	0.76494	0.999	D	0.71656	0.974	T	0.67684	-0.5607	10	0.54805	T	0.06	-16.1111	9.3174	0.37943	0.2222:0.0:0.7778:0.0	.	685	Q6NUN7	CK063_HUMAN	N	685	ENSP00000227349:K685N;ENSP00000431669:K685N	ENSP00000227349:K685N	K	+	3	2	C11orf63	122333325	0.992000	0.36948	0.941000	0.38009	0.906000	0.53458	0.232000	0.17891	0.775000	0.33450	0.563000	0.77884	AAG		PASS	0.373	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		5	72	5	72	---	---	---	---
FLI1	2313	broad.mit.edu	37	11	128628202	128628202	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr11:128628202G>A	ENST00000527786.2	+	2	700	c.211G>A	c.(211-213)Gac>Aac	p.D71N	FLI1_ENST00000344954.6_Missense_Mutation_p.D38N|FLI1_ENST00000525560.1_5'UTR|FLI1_ENST00000534087.2_Missense_Mutation_p.D38N	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	71					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D71N(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GCGGGAGTATGACCACATGAA	0.577			T	EWSR1	Ewing sarcoma																																	uc010sbu.1				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2266)	1	Substitution - Missense(1)		lung(1)	bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273						c.(211-213)GAC>AAC		Friend leukemia virus integration 1							66.0	70.0	68.0					11																	128628202		2114	4222	6336	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128628202G>A	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.211G>A	11.37:g.128628202G>A	ENSP00000433488:p.Asp71Asn					FLI1_uc010sbt.1_5'UTR|FLI1_uc010sbv.1_Missense_Mutation_p.D38N|FLI1_uc009zci.2_5'UTR|FLI1_uc001qen.2_Missense_Mutation_p.D38N	p.D71N	NM_002017	NP_002008	Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	2	552	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	71					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.211G>A	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544316	0.27563	.	.	ENSG00000151702	ENST00000344954;ENST00000429175;ENST00000534087	T;T;T	0.14766	2.57;2.48;2.57	5.17	5.17	0.71159	.	0.659026	0.16616	N	0.206708	T	0.06645	0.0170	N	0.05078	-0.115	0.80722	D	1	P;B	0.37914	0.611;0.001	B;B	0.33196	0.159;0.002	T	0.17592	-1.0364	10	0.02654	T	1	.	18.6631	0.91478	0.0:0.0:1.0:0.0	.	71;38	Q01543;B4DTC6	FLI1_HUMAN;.	N	38;71;38	ENSP00000339627:D38N;ENSP00000399985:D71N;ENSP00000432950:D38N	ENSP00000339627:D38N	D	+	1	0	FLI1	128133412	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	9.433000	0.97501	2.404000	0.81709	0.561000	0.74099	GAC		PASS	0.577	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		7	14	7	14	---	---	---	---
TMEM45B	120224	broad.mit.edu	37	11	129724601	129724601	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr11:129724601T>C	ENST00000524567.1	+	3	556	c.275T>C	c.(274-276)aTg>aCg	p.M92T	TMEM45B_ENST00000281441.3_Missense_Mutation_p.M92T			Q96B21	TM45B_HUMAN	transmembrane protein 45B	92						integral component of membrane (GO:0016021)		p.M92T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		CACAGCACCATGTACCTATTC	0.522																																						uc001qfe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(274-276)ATG>ACG		transmembrane protein 45B							162.0	147.0	152.0					11																	129724601		2201	4297	6498	SO:0001583	missense	120224					integral to membrane		g.chr11:129724601T>C	AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.275T>C	11.37:g.129724601T>C	ENSP00000436293:p.Met92Thr					TMEM45B_uc001qff.1_Missense_Mutation_p.M92T	p.M92T	NM_138788	NP_620143	Q96B21	TM45B_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)	3	336	+	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	92					A8K2L8	Missense_Mutation	SNP	ENST00000524567.1	37	c.275T>C	CCDS8482.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.230886	0.79688	.	.	ENSG00000151715	ENST00000281441;ENST00000524567	T;T	0.51817	0.69;0.69	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.74084	0.3670	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.79841	-0.1633	10	0.66056	D	0.02	-16.4722	14.9409	0.70992	0.0:0.0:0.0:1.0	.	92	Q96B21	TM45B_HUMAN	T	92	ENSP00000281441:M92T;ENSP00000436293:M92T	ENSP00000281441:M92T	M	+	2	0	TMEM45B	129229811	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.651000	0.83577	2.199000	0.70637	0.519000	0.50382	ATG		PASS	0.522	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	NM_138788		12	25	12	25	---	---	---	---
CD163L1	283316	broad.mit.edu	37	12	7519883	7519883	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr12:7519883C>T	ENST00000313599.3	-	18	4285	c.4228G>A	c.(4228-4230)Gag>Aag	p.E1410K	CD163L1_ENST00000396630.1_Intron|CD163L1_ENST00000416109.2_Missense_Mutation_p.E1420K			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1410						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.E1410K(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GTCTCCATCTCATGGAATAAA	0.488																																						uc001qsy.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(4228-4230)GAG>AAG		scavenger receptor cysteine-rich type 1							74.0	66.0	69.0					12																	7519883		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7519883C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.4228G>A	12.37:g.7519883C>T	ENSP00000315945:p.Glu1410Lys					CD163L1_uc010sge.1_Missense_Mutation_p.E1420K	p.E1410K	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			18	4254	-			1410			Cytoplasmic (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.4228G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611360	0.28712	.	.	ENSG00000177675	ENST00000313599;ENST00000416109	T;T	0.01887	4.58;4.58	1.93	1.93	0.25924	.	.	.	.	.	T	0.03608	0.0103	N	0.08118	0	0.21652	N	0.999604	D;D	0.69078	0.985;0.997	B;D	0.73380	0.437;0.98	T	0.52102	-0.8620	9	0.51188	T	0.08	.	7.7937	0.29135	0.0:1.0:0.0:0.0	.	1420;1410	E7EVK4;Q9NR16	.;C163B_HUMAN	K	1410;1420	ENSP00000315945:E1410K;ENSP00000393474:E1420K	ENSP00000315945:E1410K	E	-	1	0	CD163L1	7411150	0.071000	0.21146	0.018000	0.16275	0.013000	0.08279	0.337000	0.19841	0.996000	0.38943	0.555000	0.69702	GAG		PASS	0.488	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		11	36	11	36	---	---	---	---
SLC2A14	144195	broad.mit.edu	37	12	7985369	7985369	+	Silent	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr12:7985369G>T	ENST00000543909.1	-	8	888	c.129C>A	c.(127-129)atC>atA	p.I43I	SLC2A14_ENST00000396589.2_Silent_p.I43I|SLC2A14_ENST00000539924.1_Silent_p.I58I|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_5'UTR|SLC2A14_ENST00000542546.1_5'UTR|SLC2A14_ENST00000431042.2_Silent_p.I20I|SLC2A14_ENST00000340749.5_Silent_p.I20I			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	43					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.I43I(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GGAAAGAGCCGATTGTAGCAA	0.473											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qtk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(127-129)ATC>ATA		glucose transporter 14							104.0	97.0	99.0					12																	7985369		2203	4300	6503	SO:0001819	synonymous_variant	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7985369G>T	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.129C>A	12.37:g.7985369G>T			OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645	SLC2A14_uc001qtl.2_Silent_p.I20I|SLC2A14_uc001qtm.2_Silent_p.I20I|SLC2A14_uc010sgg.1_5'UTR|SLC2A14_uc001qtn.2_Silent_p.I43I|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Silent_p.I58I	p.I43I	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	8	922	-			43			Helical; Name=1; (Potential).		B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Silent	SNP	ENST00000543909.1	37	c.129C>A	CCDS8585.1																																																																																				PASS	0.473	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		37	44	37	44	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56580987	56580987	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr12:56580987G>A	ENST00000267064.4	-	2	301	c.215C>T	c.(214-216)cCg>cTg	p.P72L	SMARCC2_ENST00000347471.4_Missense_Mutation_p.P72L|SMARCC2_ENST00000550164.1_Missense_Mutation_p.P72L|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Missense_Mutation_p.P72L|SMARCC2_ENST00000550859.1_5'UTR	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	72					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.P72L(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTTAGTGAGCGGTGCATTGCT	0.463																																						uc001skb.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(214-216)CCG>CTG		SWI/SNF-related matrix-associated							95.0	95.0	95.0					12																	56580987		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56580987G>A	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.215C>T	12.37:g.56580987G>A	ENSP00000267064:p.Pro72Leu					SMARCC2_uc001skd.2_Missense_Mutation_p.P72L|SMARCC2_uc001ska.2_Missense_Mutation_p.P72L|SMARCC2_uc001skc.2_Missense_Mutation_p.P72L|SMARCC2_uc010sqf.1_5'UTR	p.P72L	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		2	321	-			72					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.215C>T	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990090	0.74589	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.49720	0.77;0.79;0.77	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.58090	0.2098	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.64830	0.977;0.961;0.994;0.977	B;B;P;B	0.49012	0.411;0.234;0.598;0.411	T	0.64462	-0.6402	10	0.87932	D	0	-12.5461	17.8735	0.88818	0.0:0.0:1.0:0.0	.	72;77;72;72	F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;SMRC2_HUMAN;.	L	72	ENSP00000449396:P72L;ENSP00000302919:P72L;ENSP00000267064:P72L	ENSP00000267064:P72L	P	-	2	0	SMARCC2	54867254	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	9.196000	0.94978	2.836000	0.97738	0.655000	0.94253	CCG		PASS	0.463	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			21	71	21	71	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104033910	104033910	+	Nonsense_Mutation	SNP	G	G	T	rs12319476	byFrequency	TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr12:104033910G>T	ENST00000388887.2	+	9	1120	c.916G>T	c.(916-918)Gag>Tag	p.E306*		NM_017564.9	NP_060034.9			stabilin 2									p.E306*(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTCTCACTGCGAGTGTAAGGA	0.383																																						uc001tjw.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(9)|skin(5)	14						c.(916-918)GAG>TAG		stabilin 2 precursor							139.0	129.0	133.0					12																	104033910		2203	4300	6503	SO:0001587	stop_gained	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104033910G>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.916G>T	12.37:g.104033910G>T	ENSP00000373539:p.Glu306*						p.E306*	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			9	1102	+			306			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000388887.2	37	c.916G>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	40	8.433200	0.98808	.	.	ENSG00000136011	ENST00000388887	.	.	.	5.62	5.62	0.85841	.	0.277558	0.34133	N	0.004229	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	19.6064	0.95583	0.0:0.0:1.0:0.0	.	.	.	.	X	306	.	ENSP00000373539:E306X	E	+	1	0	STAB2	102558040	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.129000	0.77225	2.795000	0.96236	0.655000	0.94253	GAG		PASS	0.383	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			4	79	4	79	---	---	---	---
PLBD2	196463	broad.mit.edu	37	12	113824871	113824871	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr12:113824871G>T	ENST00000280800.3	+	10	1447	c.1416G>T	c.(1414-1416)atG>atT	p.M472I	PLBD2_ENST00000545182.2_Missense_Mutation_p.M440I	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	472					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.M472I(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TACAAGACATGGACTCCATGG	0.597																																						uc001tve.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1414-1416)ATG>ATT		phospholipase B domain containing 2 isoform 1							68.0	75.0	72.0					12																	113824871		2203	4300	6503	SO:0001583	missense	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113824871G>T	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1416G>T	12.37:g.113824871G>T	ENSP00000280800:p.Met472Ile					PLBD2_uc001tvf.2_Missense_Mutation_p.M440I	p.M472I	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN			10	1451	+			472					F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	c.1416G>T	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	G	1.399	-0.578608	0.03854	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.15017	2.46;2.46	5.33	1.25	0.21368	.	0.831137	0.11147	N	0.594590	T	0.08935	0.0221	N	0.10782	0.045	0.25838	N	0.984093	B;B	0.06786	0.0;0.001	B;B	0.12156	0.003;0.007	T	0.41360	-0.9513	10	0.16896	T	0.51	-5.9425	10.7414	0.46156	0.2559:0.0:0.7441:0.0	.	440;472	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	I	440;472	ENSP00000443463:M440I;ENSP00000280800:M472I	ENSP00000280800:M472I	M	+	3	0	PLBD2	112309254	1.000000	0.71417	0.078000	0.20375	0.313000	0.28021	2.553000	0.45837	-0.044000	0.13491	-0.459000	0.05422	ATG		PASS	0.597	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		5	68	5	68	---	---	---	---
GLT1D1	144423	broad.mit.edu	37	12	129442181	129442181	+	Missense_Mutation	SNP	A	A	T	rs143132819		TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr12:129442181A>T	ENST00000442111.2	+	11	960	c.872A>T	c.(871-873)aAt>aTt	p.N291I	GLT1D1_ENST00000537468.1_Missense_Mutation_p.N296I|GLT1D1_ENST00000542193.1_Missense_Mutation_p.N208I|GLT1D1_ENST00000281703.6_Missense_Mutation_p.N211I			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	291					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)	p.N211I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CTGTTTTCCAATCCTCAGGTA	0.448																																						uc010tbh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(886-888)AAT>ATT		glycosyltransferase 1 domain containing 1							131.0	122.0	125.0					12																	129442181		2203	4300	6503	SO:0001583	missense	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129442181A>T		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.872A>T	12.37:g.129442181A>T	ENSP00000394692:p.Asn291Ile					GLT1D1_uc001uhx.1_Missense_Mutation_p.N211I|GLT1D1_uc001uhy.1_RNA	p.N296I	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	12	896	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		291					Q86XG8	Missense_Mutation	SNP	ENST00000442111.2	37	c.887A>T		.	.	.	.	.	.	.	.	.	.	A	1.077	-0.668060	0.03428	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468;ENST00000542193	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	5.6	3.22	0.36961	.	0.584471	0.18345	N	0.144050	T	0.69043	0.3067	L	0.35723	1.085	0.09310	N	1	B;B	0.22983	0.015;0.078	B;B	0.20384	0.012;0.029	T	0.57075	-0.7873	10	0.40728	T	0.16	-26.1916	6.995	0.24777	0.645:0.2814:0.0736:0.0	.	296;211	F5H088;Q96MS3-2	.;.	I	291;211;296;208	ENSP00000394692:N291I;ENSP00000281703:N211I;ENSP00000438158:N296I;ENSP00000437500:N208I	ENSP00000281703:N211I	N	+	2	0	GLT1D1	128008134	0.000000	0.05858	0.004000	0.12327	0.038000	0.13279	0.720000	0.25896	0.393000	0.25203	-1.221000	0.01599	AAT		PASS	0.448	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669		7	17	7	17	---	---	---	---
POSTN	10631	broad.mit.edu	37	13	38160416	38160416	+	Splice_Site	SNP	G	G	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr13:38160416G>A	ENST00000379747.4	-	7	872	c.755C>T	c.(754-756)gCa>gTa	p.A252V	POSTN_ENST00000379743.4_Splice_Site_p.A252V|POSTN_ENST00000541179.1_Splice_Site_p.A252V|POSTN_ENST00000379742.4_Splice_Site_p.A252V|POSTN_ENST00000541481.1_Splice_Site_p.A252V|POSTN_ENST00000379749.4_Splice_Site_p.A252V	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	252	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.A252V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GATGGCAGCTGCCTGAAACAC	0.458																																						uc001uwo.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(754-756)GCA>GTA		periostin, osteoblast specific factor isoform 1							85.0	73.0	77.0					13																	38160416		2203	4300	6503	SO:0001630	splice_region_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38160416G>A	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.754-1C>T	13.37:g.38160416G>A						POSTN_uc001uwp.3_Missense_Mutation_p.A252V|POSTN_uc001uwr.2_Missense_Mutation_p.A252V|POSTN_uc001uwq.2_Missense_Mutation_p.A252V|POSTN_uc010teu.1_Missense_Mutation_p.A252V|POSTN_uc010tev.1_Missense_Mutation_p.A252V|POSTN_uc010tew.1_Missense_Mutation_p.A252V|POSTN_uc010tex.1_Missense_Mutation_p.A167V	p.A252V	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	7	873	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	252			FAS1 2.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.755C>T	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526478	0.64860	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94;-2.94	5.48	5.48	0.80851	FAS1 domain (4);	0.206543	0.50627	D	0.000109	D	0.91257	0.7244	M	0.67953	2.075	0.41175	D	0.986191	B;B;B;B;B;B;B	0.29766	0.131;0.063;0.099;0.063;0.256;0.081;0.099	B;B;B;B;B;B;B	0.25140	0.057;0.034;0.034;0.034;0.058;0.056;0.058	D	0.89717	0.3916	10	0.51188	T	0.08	.	19.364	0.94454	0.0:0.0:1.0:0.0	.	252;252;252;252;252;252;252	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	V	252;252;252;252;252;252;169	ENSP00000437959:A252V;ENSP00000369073:A252V;ENSP00000369071:A252V;ENSP00000369067:A252V;ENSP00000369066:A252V;ENSP00000437953:A252V	ENSP00000369066:A252V	A	-	2	0	POSTN	37058416	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.818000	0.55678	2.547000	0.85894	0.655000	0.94253	GCA		PASS	0.458	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	Missense_Mutation	11	35	11	35	---	---	---	---
PROSER1	80209	broad.mit.edu	37	13	39587739	39587739	+	Silent	SNP	G	G	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr13:39587739G>A	ENST00000352251.3	-	11	2483	c.1650C>T	c.(1648-1650)tcC>tcT	p.S550S	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Silent_p.S528S	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	550	Ser-rich.							p.S550S(1)									TCAGGGGAGTGGAAGTTGAGT	0.587																																						uc001uwy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5						c.(1648-1650)TCC>TCT		hypothetical protein LOC80209 isoform 1							69.0	74.0	72.0					13																	39587739		2203	4300	6503	SO:0001819	synonymous_variant	80209							g.chr13:39587739G>A	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1650C>T	13.37:g.39587739G>A						C13orf23_uc001uwz.2_Silent_p.S528S	p.S550S	NM_025138	NP_079414	Q86XN7	CM023_HUMAN		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)	11	2523	-		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	550			Ser-rich.		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Silent	SNP	ENST00000352251.3	37	c.1650C>T	CCDS9368.2																																																																																				PASS	0.587	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		20	58	20	58	---	---	---	---
ELF1	1997	broad.mit.edu	37	13	41517101	41517101	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr13:41517101C>T	ENST00000239882.3	-	7	1107	c.793G>A	c.(793-795)Gga>Aga	p.G265R	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.G241R	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	265					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G265R(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		AGTGCTCTTCCCATGGTCTCA	0.358																																						uc001uxs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(793-795)GGA>AGA		E74-like factor 1 (ets domain transcription							95.0	87.0	90.0					13																	41517101		2203	4300	6503	SO:0001583	missense	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41517101C>T	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.793G>A	13.37:g.41517101C>T	ENSP00000239882:p.Gly265Arg					ELF1_uc010tfc.1_Missense_Mutation_p.G241R|ELF1_uc010acd.2_Missense_Mutation_p.G158R	p.G265R	NM_172373	NP_758961	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	7	1166	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	265			ETS.		B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	c.793G>A	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019461	0.93462	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.57273	0.41;0.41	5.67	5.67	0.87782	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	T	0.72277	0.3440	M	0.65320	2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73688	-0.3904	10	0.87932	D	0	.	19.7493	0.96261	0.0:1.0:0.0:0.0	.	241;265	E9PDQ9;P32519	.;ELF1_HUMAN	R	241;7;265	ENSP00000405580:G241R;ENSP00000239882:G265R	ENSP00000239882:G265R	G	-	1	0	ELF1	40415101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.663000	0.90544	0.655000	0.94253	GGA		PASS	0.358	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		13	32	13	32	---	---	---	---
NEK5	341676	broad.mit.edu	37	13	52693485	52693485	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr13:52693485T>C	ENST00000355568.4	-	4	323	c.184A>G	c.(184-186)Aac>Gac	p.N62D		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	62	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.N119D(1)|p.N62D(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GCTACAATGTTGGGATGTTTC	0.294																																						uc001vge.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(184-186)AAC>GAC		NIMA-related kinase 5							95.0	99.0	98.0					13																	52693485		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52693485T>C	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.184A>G	13.37:g.52693485T>C	ENSP00000347767:p.Asn62Asp					NEK5_uc001vgf.2_Missense_Mutation_p.N62D	p.N62D	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	4	324	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	62			Protein kinase.		Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.184A>G	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.602743	0.87157	.	.	ENSG00000197168	ENST00000355568	T	0.35421	1.31	5.3	5.3	0.74995	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.76499	0.3996	H	0.99211	4.47	0.48571	D	0.999673	D	0.89917	1.0	D	0.91635	0.999	D	0.86773	0.1974	10	0.66056	D	0.02	.	15.2442	0.73493	0.0:0.0:0.0:1.0	.	62	Q6P3R8	NEK5_HUMAN	D	62	ENSP00000347767:N62D	ENSP00000347767:N62D	N	-	1	0	NEK5	51591486	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	7.099000	0.76981	1.997000	0.58415	0.533000	0.62120	AAC		PASS	0.294	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		19	22	19	22	---	---	---	---
SLITRK6	84189	broad.mit.edu	37	13	86369450	86369450	+	Silent	SNP	A	A	G			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr13:86369450A>G	ENST00000400286.2	-	2	1792	c.1194T>C	c.(1192-1194)cgT>cgC	p.R398R		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	398					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.R398R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GAACTTCAATACGATTGTTTC	0.353																																						uc001vll.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1192-1194)CGT>CGC		slit and trk like 6 precursor							73.0	67.0	69.0					13																	86369450		1839	4089	5928	SO:0001819	synonymous_variant	84189					integral to membrane		g.chr13:86369450A>G	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1194T>C	13.37:g.86369450A>G						SLITRK6_uc010afe.1_Intron	p.R398R	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	1653	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		398			Extracellular (Potential).|LRR 7.		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Silent	SNP	ENST00000400286.2	37	c.1194T>C	CCDS41903.1																																																																																				PASS	0.353	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		12	30	12	30	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33291404	33291404	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr14:33291404A>C	ENST00000280979.4	+	13	4555	c.4385A>C	c.(4384-4386)cAt>cCt	p.H1462P	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1462					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.H1462P(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAAGGAAAACATGATGTGTTT	0.368																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(4384-4386)CAT>CCT		A-kinase anchor protein 6							75.0	73.0	74.0					14																	33291404		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291404A>C	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4385A>C	14.37:g.33291404A>C	ENSP00000280979:p.His1462Pro						p.H1462P	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4555	+	Breast(36;0.0388)|Prostate(35;0.15)		1462					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.4385A>C	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	A	6.447	0.450548	0.12223	.	.	ENSG00000151320	ENST00000280979	T	0.05319	3.46	5.55	1.7	0.24286	.	0.373742	0.26341	N	0.024927	T	0.04998	0.0134	L	0.38838	1.175	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.35126	-0.9801	10	0.49607	T	0.09	-4.6761	5.402	0.16301	0.6383:0.1374:0.2242:0.0	.	1462	Q13023	AKAP6_HUMAN	P	1462	ENSP00000280979:H1462P	ENSP00000280979:H1462P	H	+	2	0	AKAP6	32361155	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.542000	0.45744	0.396000	0.25283	0.460000	0.39030	CAT		PASS	0.368	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		6	32	6	32	---	---	---	---
PLEKHG3	26030	broad.mit.edu	37	14	65207982	65207982	+	Missense_Mutation	SNP	A	A	T	rs540691526		TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr14:65207982A>T	ENST00000394691.1	+	16	1894	c.1747A>T	c.(1747-1749)Atg>Ttg	p.M583L	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.M527L|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.M116L|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.M88L			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	583							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M527L(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGAAGAAGAAATGGGAGGTGC	0.627																																						uc001xho.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1747-1749)ATG>TTG		pleckstrin homology domain containing, family G,							84.0	78.0	80.0					14																	65207982		2203	4300	6503	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65207982A>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1747A>T	14.37:g.65207982A>T	ENSP00000378183:p.Met583Leu					PLEKHG3_uc001xhn.1_Missense_Mutation_p.M527L|PLEKHG3_uc001xhp.2_Missense_Mutation_p.M704L|PLEKHG3_uc010aqh.1_Missense_Mutation_p.M125L|PLEKHG3_uc001xhq.1_Missense_Mutation_p.M88L	p.M583L	NM_015549	NP_056364	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	16	2016	+			583					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.1747A>T		.	.	.	.	.	.	.	.	.	.	A	6.813	0.519138	0.13005	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.22	-2.65	0.06095	.	3.306700	0.01588	U	0.021436	T	0.70369	0.3216	N	0.08118	0	0.09310	N	1	B;B;B;B	0.21821	0.061;0.0;0.001;0.003	B;B;B;B	0.19666	0.026;0.001;0.006;0.009	T	0.59316	-0.7477	10	0.28530	T	0.3	.	7.7427	0.28851	0.2268:0.1623:0.611:0.0	.	116;88;583;527	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	L	527;583;116;88	ENSP00000247226:M527L;ENSP00000378183:M583L;ENSP00000450945:M116L;ENSP00000450973:M88L	ENSP00000247226:M527L	M	+	1	0	PLEKHG3	64277735	0.009000	0.17119	0.000000	0.03702	0.023000	0.10783	1.215000	0.32431	-0.364000	0.08088	-0.256000	0.11100	ATG		PASS	0.627	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		13	16	13	16	---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95590801	95590801	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr14:95590801G>T	ENST00000526495.1	-	10	1399	c.1108C>A	c.(1108-1110)Ctg>Atg	p.L370M	DICER1_ENST00000343455.3_Missense_Mutation_p.L370M|DICER1_ENST00000527414.1_Missense_Mutation_p.L370M|DICER1_ENST00000541352.1_Missense_Mutation_p.L370M|DICER1_ENST00000393063.1_Missense_Mutation_p.L370M			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	370	Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.L370M(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACAAATTTCAGGTCAAGTGAG	0.383			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(1108-1110)CTG>ATG		dicer1							142.0	144.0	143.0					14																	95590801		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95590801G>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1108C>A	14.37:g.95590801G>T	ENSP00000437256:p.Leu370Met					DICER1_uc001ydv.2_Missense_Mutation_p.L360M|DICER1_uc001ydx.2_Missense_Mutation_p.L370M	p.L370M	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	9	1290	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	370			Required for interaction with PRKRA and TARBP2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.1108C>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536090	0.45176	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36	5.54	5.54	0.83059	.	0.063428	0.64402	D	0.000004	T	0.45337	0.1337	L	0.39147	1.195	0.54753	D	0.999988	B	0.17465	0.022	B	0.20577	0.03	T	0.29027	-1.0025	10	0.33141	T	0.24	-12.1164	14.3438	0.66646	0.0:0.0:0.8518:0.1482	.	370	Q9UPY3	DICER_HUMAN	M	370	ENSP00000343745:L370M;ENSP00000437256:L370M;ENSP00000376783:L370M;ENSP00000435681:L370M;ENSP00000444719:L370M	ENSP00000343745:L370M	L	-	1	2	DICER1	94660554	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.224000	0.78042	2.607000	0.88179	0.585000	0.79938	CTG		PASS	0.383	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			6	124	6	124	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102474667	102474667	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr14:102474667C>A	ENST00000360184.4	+	29	6134	c.5970C>A	c.(5968-5970)taC>taA	p.Y1990*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1990	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.Y1990*(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACCCCAACTACGACAAGAGTA	0.458																																						uc001yks.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(5968-5970)TAC>TAA		cytoplasmic dynein 1 heavy chain 1							56.0	49.0	52.0					14																	102474667		2203	4300	6503	SO:0001587	stop_gained	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102474667C>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5970C>A	14.37:g.102474667C>A	ENSP00000348965:p.Tyr1990*						p.Y1990*	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			29	6134	+			1990			AAA 1 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Nonsense_Mutation	SNP	ENST00000360184.4	37	c.5970C>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	44	11.122609	0.99518	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.32	-6.29	0.02013	.	0.583568	0.18945	N	0.126831	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5804	0.45252	0.0:0.1947:0.1769:0.6285	.	.	.	.	X	1990	.	ENSP00000348965:Y1990X	Y	+	3	2	DYNC1H1	101544420	0.698000	0.27777	0.006000	0.13384	0.718000	0.41266	-0.151000	0.10175	-1.335000	0.02241	-1.000000	0.02509	TAC		PASS	0.458	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		7	25	7	25	---	---	---	---
RCOR1	23186	broad.mit.edu	37	14	103174886	103174886	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr14:103174886C>A	ENST00000570597.1	+	6	736	c.736C>A	c.(736-738)Cat>Aat	p.H246N	RCOR1_ENST00000262241.6_Missense_Mutation_p.H249N			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	246	Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)	p.H246N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						GATGGATCGCCATGCCCGGAA	0.443																																						uc001ymb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(736-738)CAT>AAT		REST corepressor 1							133.0	144.0	140.0					14																	103174886		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103174886C>A	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.736C>A	14.37:g.103174886C>A	ENSP00000459789:p.His246Asn						p.H246N	NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN			6	736	+			246			Interaction with HDAC1.|Potential.		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.736C>A		.	.	.	.	.	.	.	.	.	.	C	31	5.095826	0.94197	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.78	5.78	0.91487	.	0.049448	0.85682	D	0.000000	T	0.50343	0.1610	L	0.31664	0.95	0.80722	D	1	P	0.43231	0.801	B	0.38500	0.275	T	0.56685	-0.7938	9	0.87932	D	0	-26.8359	20.012	0.97458	0.0:1.0:0.0:0.0	.	246	Q9UKL0	RCOR1_HUMAN	N	246	.	ENSP00000262241:H246N	H	+	1	0	RCOR1	102244639	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	7.461000	0.80834	2.731000	0.93534	0.655000	0.94253	CAT		PASS	0.443	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		7	219	7	219	---	---	---	---
IGHM	3507	broad.mit.edu	37	14	106321604	106321604	+	RNA	SNP	C	C	T	rs190574154		TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr14:106321604C>T	ENST00000390559.2	-	0	629				hsa-mir-4538_ENST00000581318.1_RNA|AL122127.2_ENST00000581918.1_RNA|AL122127.1_ENST00000581354.1_RNA|AL122127.5_ENST00000582202.1_RNA|hsa-mir-4539_ENST00000579784.1_RNA			P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										ACATGGAGGACGCATTCTGCT	0.637													c|||	1	0.000199681	0.0	0.0	5008	,	,		12172	0.0		0.001	False		,,,				2504	0.0					uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							43.0	48.0	46.0					14																	106321604		2121	4213	6334			8755							g.chr14:106321604C>T	X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106321604C>T						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Intron|uc001ysk.1_Intron|uc001ysl.1_Intron|uc001ysm.1_Intron|uc001ysn.1_Intron|uc001yso.1_Intron								3599		-								P20769	RNA	SNP	ENST00000390559.2	37	c.55792G>A																																																																																					PASS	0.637	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326272.1	NG_001019		8	5	8	5	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25959028	25959028	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr15:25959028C>T	ENST00000356865.6	-	10	2248	c.2137G>A	c.(2137-2139)Gtg>Atg	p.V713M		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	713					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V713M(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCCACAAGCACGCAGTTGTAG	0.647																																						uc010ayu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(2137-2139)GTG>ATG		ATPase, class V, type 10A							62.0	58.0	60.0					15																	25959028		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25959028C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2137G>A	15.37:g.25959028C>T	ENSP00000349325:p.Val713Met						p.V713M	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	2243	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	713			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2137G>A	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336445	0.24253	.	.	ENSG00000206190	ENST00000356865	T	0.68181	-0.31	4.5	-2.64	0.06114	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.449841	0.25810	N	0.028143	T	0.60470	0.2271	L	0.55990	1.75	0.22601	N	0.998945	P	0.52463	0.953	P	0.50109	0.631	T	0.56685	-0.7938	10	0.45353	T	0.12	-7.3838	6.1114	0.20102	0.1539:0.4912:0.0:0.355	.	713	O60312	AT10A_HUMAN	M	713	ENSP00000349325:V713M	ENSP00000349325:V713M	V	-	1	0	ATP10A	23510121	0.024000	0.19004	0.070000	0.20053	0.005000	0.04900	-0.181000	0.09740	-0.361000	0.08125	-1.036000	0.02392	GTG		PASS	0.647	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		4	17	4	17	---	---	---	---
GABRB3	2562	broad.mit.edu	37	15	26812774	26812774	+	Silent	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr15:26812774C>A	ENST00000311550.5	-	7	900	c.789G>T	c.(787-789)gtG>gtT	p.V263V	GABRB3_ENST00000545868.1_Silent_p.V178V|GABRB3_ENST00000299267.4_Silent_p.V263V|GABRB3_ENST00000541819.2_Silent_p.V319V|GABRB3_ENST00000400188.3_Silent_p.V192V	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	263					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.V263V(4)|p.V319V(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCCAGAAGGACACCCACGACA	0.398																																						uc001zaz.2																			6	Substitution - coding silent(6)		lung(6)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(787-789)GTG>GTT		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						132.0	112.0	119.0					15																	26812774		2203	4300	6503	SO:0001819	synonymous_variant	2562				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.chr15:26812774C>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.789G>T	15.37:g.26812774C>A						GABRB3_uc010uae.1_Silent_p.V178V|GABRB3_uc001zba.2_Silent_p.V263V|GABRB3_uc001zbb.2_Silent_p.V319V	p.V263V	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	7	931	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	263			Helical; (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	c.789G>T	CCDS10019.1																																																																																				PASS	0.398	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			10	23	10	23	---	---	---	---
APBA2	321	broad.mit.edu	37	15	29398955	29398955	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr15:29398955A>T	ENST00000558402.1	+	13	2449	c.1850A>T	c.(1849-1851)cAg>cTg	p.Q617L	APBA2_ENST00000558259.1_Missense_Mutation_p.Q617L|APBA2_ENST00000561069.1_Missense_Mutation_p.Q617L|APBA2_ENST00000558330.1_Missense_Mutation_p.Q605L|APBA2_ENST00000411764.1_Missense_Mutation_p.Q605L			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	617	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.Q617L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		ATCGGGGACCAGATCATGTCC	0.662																																						uc001zck.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1849-1851)CAG>CTG		amyloid beta A4 precursor protein-binding,							66.0	61.0	63.0					15																	29398955		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29398955A>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1850A>T	15.37:g.29398955A>T	ENSP00000453293:p.Gln617Leu					APBA2_uc010azj.2_Missense_Mutation_p.Q605L|APBA2_uc010uat.1_Missense_Mutation_p.Q605L|APBA2_uc001zcl.2_Missense_Mutation_p.Q605L	p.Q617L	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	11	2057	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	617			PDZ 1.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1850A>T	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176255	0.78564	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.28255	1.62	4.19	3.06	0.35304	PDZ/DHR/GLGF (4);	0.081401	0.53938	D	0.000051	T	0.52256	0.1723	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	0.977;1.0;0.999	P;D;D	0.91635	0.826;0.999;0.979	T	0.53294	-0.8459	10	0.87932	D	0	.	8.8741	0.35334	0.9096:0.0:0.0904:0.0	.	605;605;617	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	L	605;617	ENSP00000409312:Q605L	ENSP00000219865:Q617L	Q	+	2	0	APBA2	27186247	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.791000	0.69045	0.760000	0.33108	0.379000	0.24179	CAG		PASS	0.662	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		12	11	12	11	---	---	---	---
EHD4	30844	broad.mit.edu	37	15	42246101	42246101	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr15:42246101C>A	ENST00000220325.4	-	2	357	c.274G>T	c.(274-276)Ggt>Tgt	p.G92C		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	92	Dynamin-type G.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.G92C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GGCTCCGGACCAATCCTCATG	0.522																																						uc001zot.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(274-276)GGT>TGT		EH-domain containing 4							96.0	87.0	90.0					15																	42246101		2203	4299	6502	SO:0001583	missense	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42246101C>A	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.274G>T	15.37:g.42246101C>A	ENSP00000220325:p.Gly92Cys					EHD4_uc001zou.2_Missense_Mutation_p.G92C	p.G92C	NM_139265	NP_644670	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	2	337	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	92					Q9HAR1|Q9NZN2	Missense_Mutation	SNP	ENST00000220325.4	37	c.274G>T	CCDS10081.1	.	.	.	.	.	.	.	.	.	.	C	31	5.064596	0.93898	.	.	ENSG00000103966	ENST00000220325	D	0.96651	-4.08	5.72	5.72	0.89469	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.98830	0.9605	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99327	1.0908	10	0.87932	D	0	-19.8919	19.8965	0.96963	0.0:1.0:0.0:0.0	.	92;92	A8K9B9;Q9H223	.;EHD4_HUMAN	C	92	ENSP00000220325:G92C	ENSP00000220325:G92C	G	-	1	0	EHD4	40033393	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.487000	0.81328	2.717000	0.92951	0.655000	0.94253	GGT		PASS	0.522	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		4	38	4	38	---	---	---	---
MNS1	55329	broad.mit.edu	37	15	56756394	56756394	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr15:56756394C>G	ENST00000260453.3	-	2	219	c.55G>C	c.(55-57)Gat>Cat	p.D19H		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	19					cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)	p.D19H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TAGTTTTCATCTACTAATTTC	0.333																																						uc002adr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(55-57)GAT>CAT		meiosis-specific nuclear structural 1							141.0	155.0	150.0					15																	56756394		2192	4291	6483	SO:0001583	missense	55329				meiosis			g.chr15:56756394C>G	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.55G>C	15.37:g.56756394C>G	ENSP00000260453:p.Asp19His					MNS1_uc010bfo.2_5'UTR	p.D19H	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	2	220	-			19					Q8IYT6|Q9NUP4	Missense_Mutation	SNP	ENST00000260453.3	37	c.55G>C	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723535	0.48728	.	.	ENSG00000138587	ENST00000260453	T	0.15256	2.44	5.62	4.48	0.54585	.	0.826049	0.11618	N	0.546011	T	0.18718	0.0449	L	0.29908	0.895	0.32680	N	0.515662	P	0.41041	0.736	P	0.46718	0.525	T	0.03887	-1.0995	10	0.48119	T	0.1	-17.9559	9.826	0.40912	0.0:0.8717:0.0:0.1283	.	19	Q8NEH6	MNS1_HUMAN	H	19	ENSP00000260453:D19H	ENSP00000260453:D19H	D	-	1	0	MNS1	54543686	0.996000	0.38824	0.999000	0.59377	0.903000	0.53119	1.652000	0.37313	2.803000	0.96430	0.591000	0.81541	GAT		PASS	0.333	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		25	54	25	54	---	---	---	---
KIAA1024	23251	broad.mit.edu	37	15	79750567	79750567	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr15:79750567G>A	ENST00000305428.3	+	2	2153	c.2078G>A	c.(2077-2079)aGc>aAc	p.S693N		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	693						integral component of membrane (GO:0016021)		p.S693N(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AACAGTGAAAGCCTGCGGGTC	0.547																																						uc002bew.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(2077-2079)AGC>AAC		hypothetical protein LOC23251							148.0	145.0	146.0					15																	79750567		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79750567G>A	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2078G>A	15.37:g.79750567G>A	ENSP00000307461:p.Ser693Asn					KIAA1024_uc010unk.1_Missense_Mutation_p.S693N	p.S693N	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			2	2153	+			693					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.2078G>A	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877588	0.72294	.	.	ENSG00000169330	ENST00000305428	T	0.46063	0.88	5.68	5.68	0.88126	.	0.144807	0.64402	D	0.000015	T	0.62478	0.2431	M	0.71581	2.175	0.80722	D	1	D	0.67145	0.996	P	0.60012	0.867	T	0.60667	-0.7218	9	.	.	.	.	19.7911	0.96458	0.0:0.0:1.0:0.0	.	693	Q9UPX6	K1024_HUMAN	N	693	ENSP00000307461:S693N	.	S	+	2	0	KIAA1024	77537622	1.000000	0.71417	0.238000	0.24106	0.431000	0.31685	5.843000	0.69424	2.681000	0.91329	0.655000	0.94253	AGC		PASS	0.547	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		42	79	42	79	---	---	---	---
FAM154B	283726	broad.mit.edu	37	15	82575397	82575397	+	Silent	SNP	C	C	G			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr15:82575397C>G	ENST00000339465.5	+	3	1260	c.1191C>G	c.(1189-1191)gcC>gcG	p.A397A	FAM154B_ENST00000427381.2_Silent_p.A382A|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	397								p.A397A(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						CAGTGAAGGCCTTCTAATAAC	0.343																																						uc002bgv.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(1189-1191)GCC>GCG		hypothetical protein LOC283726							34.0	35.0	34.0					15																	82575397		2198	4286	6484	SO:0001819	synonymous_variant	283726							g.chr15:82575397C>G	AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.1191C>G	15.37:g.82575397C>G						FAM154B_uc010unr.1_Silent_p.A382A|FAM154B_uc010uns.1_RNA	p.A397A	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN			3	1260	+			397					B4E2M2	Silent	SNP	ENST00000339465.5	37	c.1191C>G	CCDS32310.1																																																																																				PASS	0.343	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		8	19	8	19	---	---	---	---
SLC28A1	9154	broad.mit.edu	37	15	85478700	85478700	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr15:85478700G>A	ENST00000286749.3	+	14	1622	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	SLC28A1_ENST00000537624.1_Missense_Mutation_p.R511H|SLC28A1_ENST00000537216.1_Missense_Mutation_p.R511H|RNU6-339P_ENST00000384310.1_RNA|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000394573.1_Missense_Mutation_p.R511H			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	511					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)	p.R511H(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	AAGCAACGCCGCCTGGCAGGG	0.617																																						uc002blg.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1531-1533)CGC>CAC		solute carrier family 28, member 1 isoform 1							112.0	106.0	108.0					15																	85478700		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85478700G>A	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1532G>A	15.37:g.85478700G>A	ENSP00000286749:p.Arg511His					SLC28A1_uc010bnb.2_Missense_Mutation_p.R511H|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.R511H|SLC28A1_uc010upg.1_Missense_Mutation_p.R511H	p.R511H	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		15	1734	+			511					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.1532G>A	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847618	0.71603	.	.	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.06528	3.29;4.54;4.52;4.52	5.12	5.12	0.69794	Na dependent nucleoside transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.22085	0.0532	M	0.87180	2.865	0.80722	D	1	D;P;P	0.56968	0.978;0.615;0.941	P;B;P	0.52217	0.693;0.238;0.584	T	0.01935	-1.1244	10	0.87932	D	0	-11.4665	16.1113	0.81266	0.0:0.0:1.0:0.0	.	511;511;511	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	H	511	ENSP00000440546:R511H;ENSP00000444700:R511H;ENSP00000286749:R511H;ENSP00000378074:R511H	ENSP00000286749:R511H	R	+	2	0	SLC28A1	83279704	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	7.408000	0.80041	2.663000	0.90544	0.455000	0.32223	CGC		PASS	0.617	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			5	42	5	42	---	---	---	---
MSLN	10232	broad.mit.edu	37	16	814042	814042	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr16:814042C>T	ENST00000382862.3	+	5	294	c.199C>T	c.(199-201)Ctt>Ttt	p.L67F	MSLN_ENST00000563941.1_Missense_Mutation_p.L67F|MSLN_ENST00000566549.1_Missense_Mutation_p.L67F|MSLN_ENST00000545450.2_Missense_Mutation_p.L67F	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	67					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L67F(2)		breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TCGCCAACTCCTTGGCTTCCC	0.662																																						uc002cjw.1																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(199-201)CTT>TTT		mesothelin isoform 2 preproprotein							49.0	39.0	42.0					16																	814042		2191	4287	6478	SO:0001583	missense	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:814042C>T	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.199C>T	16.37:g.814042C>T	ENSP00000372313:p.Leu67Phe					MSLN_uc002cjt.1_Missense_Mutation_p.L67F|MSLN_uc002cju.1_Missense_Mutation_p.L67F|MSLN_uc010brd.1_Missense_Mutation_p.L66F|MSLN_uc002cjv.1_Missense_Mutation_p.L67F|MSLN_uc002cjx.1_Missense_Mutation_p.L67F|MSLN_uc002cjy.1_5'Flank	p.L67F	NM_013404	NP_037536	Q13421	MSLN_HUMAN			5	250	+		Hepatocellular(780;0.00335)	67					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	c.199C>T	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799891	0.31869	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.20069	2.1;2.1	2.51	0.375	0.16188	.	0.467079	0.18433	U	0.141365	T	0.23094	0.0558	L	0.51422	1.61	0.09310	N	1	D;D;D;D	0.64830	0.987;0.99;0.994;0.987	P;P;P;P	0.53912	0.6;0.722;0.737;0.6	T	0.10613	-1.0622	10	0.31617	T	0.26	-0.0074	3.5267	0.07761	0.0:0.568:0.2657:0.1662	.	66;67;67;67	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	F	67	ENSP00000442965:L67F;ENSP00000372313:L67F	ENSP00000372313:L67F	L	+	1	0	MSLN	754043	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.138000	0.10374	-0.129000	0.11620	-0.304000	0.09214	CTT		PASS	0.662	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			8	8	8	8	---	---	---	---
CLDN9	9080	broad.mit.edu	37	16	3063982	3063982	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr16:3063982G>T	ENST00000445369.2	+	1	1526	c.619G>T	c.(619-621)Ggt>Tgt	p.G207C		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	207					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.G207C(1)		endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CTCCCGCTCGGGTGCATCTGG	0.701																																						uc010uwo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(619-621)GGT>TGT		claudin 9							37.0	46.0	43.0					16																	3063982		1956	3892	5848	SO:0001583	missense	9080				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3063982G>T	AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"""Claudins"""	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.619G>T	16.37:g.3063982G>T	ENSP00000398017:p.Gly207Cys						p.G207C	NM_020982	NP_066192	O95484	CLD9_HUMAN			1	1526	+			207			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000445369.2	37	c.619G>T	CCDS10487.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024477	0.35701	.	.	ENSG00000213937	ENST00000445369	D	0.83914	-1.78	4.33	4.33	0.51752	.	0.512499	0.19638	N	0.109517	T	0.79896	0.4525	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	P	0.61800	0.894	T	0.81621	-0.0850	10	0.41790	T	0.15	.	14.7023	0.69164	0.0:0.0:1.0:0.0	.	207	O95484	CLD9_HUMAN	C	207	ENSP00000398017:G207C	ENSP00000398017:G207C	G	+	1	0	CLDN9	3003983	1.000000	0.71417	0.067000	0.19924	0.113000	0.19764	4.654000	0.61469	2.391000	0.81399	0.462000	0.41574	GGT		PASS	0.701	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	NM_020982		5	51	5	51	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3777896	3777896	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr16:3777896G>T	ENST00000262367.5	-	31	7961	c.7152C>A	c.(7150-7152)caC>caA	p.H2384Q	CREBBP_ENST00000382070.3_Missense_Mutation_p.H2346Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2384					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.H2384Q(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CGAGTCCGGGGTGGGGGGAAC	0.647			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(7150-7152)CAC>CAA		CREB binding protein isoform a							77.0	81.0	79.0					16																	3777896		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3777896G>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.7152C>A	16.37:g.3777896G>T	ENSP00000262367:p.His2384Gln					CREBBP_uc002cvw.2_Missense_Mutation_p.H2346Q	p.H2384Q	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	7356	-		Ovarian(90;0.0266)	2384					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.7152C>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	8.182	0.794158	0.16327	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.86230	-2.09;-2.04	5.35	1.04	0.20106	.	0.000000	0.85682	D	0.000000	D	0.86936	0.6053	L	0.29908	0.895	0.54753	D	0.999987	D;D	0.65815	0.995;0.995	D;D	0.72982	0.979;0.979	D	0.84679	0.0716	10	0.72032	D	0.01	-25.0777	8.5429	0.33404	0.3336:0.0:0.6664:0.0	.	2414;2384	Q4LE28;Q92793	.;CBP_HUMAN	Q	2384;2414;2346;919	ENSP00000262367:H2384Q;ENSP00000371502:H2346Q	ENSP00000262367:H2384Q	H	-	3	2	CREBBP	3717897	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.382000	0.52463	0.283000	0.22279	0.655000	0.94253	CAC		PASS	0.647	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		9	36	9	36	---	---	---	---
SEC14L5	9717	broad.mit.edu	37	16	5053517	5053517	+	Silent	SNP	C	C	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr16:5053517C>T	ENST00000251170.7	+	11	1425	c.1245C>T	c.(1243-1245)acC>acT	p.T415T		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	415	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.T415T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACCCAGAGACCCTGGGTCGGC	0.647																																						uc002cye.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1243-1245)ACC>ACT		SEC14-like 5							41.0	47.0	45.0					16																	5053517		1916	4154	6070	SO:0001819	synonymous_variant	9717					integral to membrane|intracellular	transporter activity	g.chr16:5053517C>T	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1245C>T	16.37:g.5053517C>T							p.T415T	NM_014692	NP_055507	O43304	S14L5_HUMAN			11	1425	+			415			CRAL-TRIO.			Silent	SNP	ENST00000251170.7	37	c.1245C>T	CCDS45403.1																																																																																				PASS	0.647	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			10	7	10	7	---	---	---	---
PDXDC1	23042	broad.mit.edu	37	16	15098131	15098131	+	Silent	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr16:15098131G>T	ENST00000396410.4	+	5	427	c.330G>T	c.(328-330)ctG>ctT	p.L110L	PDXDC1_ENST00000569715.1_Silent_p.L83L|PDXDC1_ENST00000455313.2_Silent_p.L110L|PDXDC1_ENST00000563679.1_Silent_p.L128L|PDXDC1_ENST00000450288.2_Silent_p.L82L|PDXDC1_ENST00000535621.2_Silent_p.L110L|PDXDC1_ENST00000447912.2_Intron|PDXDC1_ENST00000325823.7_Silent_p.L95L	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	110					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.L110L(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAGAGAAGCTGAGAAAACTTA	0.373																																						uc002dda.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(328-330)CTG>CTT		pyridoxal-dependent decarboxylase domain	Pyridoxal Phosphate(DB00114)						161.0	177.0	171.0					16																	15098131		2197	4300	6497	SO:0001819	synonymous_variant	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15098131G>T	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.330G>T	16.37:g.15098131G>T						PDXDC1_uc010uzl.1_Silent_p.L95L|PDXDC1_uc010uzm.1_Intron|PDXDC1_uc010bvc.1_Silent_p.L51L|PDXDC1_uc002dcz.2_Silent_p.L110L|PDXDC1_uc002ddb.3_Silent_p.L83L|PDXDC1_uc010uzn.1_Silent_p.L82L|PDXDC1_uc002ddc.2_Silent_p.L110L	p.L110L	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN			5	554	+			110					B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Silent	SNP	ENST00000396410.4	37	c.330G>T	CCDS32393.1																																																																																				PASS	0.373	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		6	179	6	179	---	---	---	---
OGFOD1	55239	broad.mit.edu	37	16	56496445	56496445	+	Splice_Site	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr16:56496445G>T	ENST00000566157.1	+	4	470		c.e4-1		OGFOD1_ENST00000568397.1_Splice_Site|OGFOD1_ENST00000565209.1_Splice_Site	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1						cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	TACATTTCTAGGAAAATTCTG	0.378																																						uc002ejb.2																			1	Unknown(1)		lung(1)	skin(1)	1						c.e4-1		2-oxoglutarate and iron-dependent oxygenase	Vitamin C(DB00126)						64.0	60.0	61.0					16																	56496445		2198	4300	6498	SO:0001630	splice_region_variant	55239						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56496445G>T	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.348-1G>T	16.37:g.56496445G>T						OGFOD1_uc002ejc.2_Splice_Site	p.R116_splice	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN			4	449	+								H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Splice_Site	SNP	ENST00000566157.1	37	c.348_splice	CCDS10761.2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396784	0.83120	.	.	ENSG00000087263	ENST00000336111	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2512	0.93926	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OGFOD1	55053946	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.374000	0.90133	2.658000	0.90341	0.585000	0.79938	.		PASS	0.378	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233	Intron	4	33	4	33	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77401602	77401602	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr16:77401602G>C	ENST00000282849.5	-	4	932	c.514C>G	c.(514-516)Cga>Gga	p.R172G	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	172					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R172G(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCATTTTTTCGTGTCCTTATT	0.463																																						uc002ffc.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(514-516)CGA>GGA		ADAM metallopeptidase with thrombospondin type 1							112.0	101.0	105.0					16																	77401602		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77401602G>C	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.514C>G	16.37:g.77401602G>C	ENSP00000282849:p.Arg172Gly					ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA	p.R172G	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			4	933	-			172					Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.514C>G	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	6.863	0.528505	0.13127	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.05258	3.47;3.47	4.72	2.66	0.31614	Peptidase M12B, propeptide (1);	0.802634	0.11690	N	0.539028	T	0.05547	0.0146	N	0.20483	0.58	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.38693	-0.9649	10	0.33141	T	0.24	.	13.8289	0.63368	0.0:0.3308:0.6692:0.0	.	172	Q8TE60	ATS18_HUMAN	G	172	ENSP00000282849:R172G;ENSP00000392540:R172G	ENSP00000282849:R172G	R	-	1	2	ADAMTS18	75959103	0.182000	0.23173	0.026000	0.17262	0.921000	0.55340	2.779000	0.47734	0.527000	0.28560	0.555000	0.69702	CGA		PASS	0.463	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			30	18	30	18	---	---	---	---
PRDM7	11105	broad.mit.edu	37	16	90126948	90126948	+	Missense_Mutation	SNP	C	C	T	rs377489230	byFrequency	TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr16:90126948C>T	ENST00000449207.2	-	9	1053	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	345	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)	p.R345Q(1)		lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCTAATGACTCGGCAGGTTCT	0.547													.|||	6	0.00119808	0.0015	0.0	5008	,	,		20151	0.0		0.0	False		,,,				2504	0.0041					uc010cje.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1033-1035)CGA>CAA		PR domain containing 7 isoform 1		C	GLN/ARG,	5,3805		0,5,1900	68.0	69.0	68.0		1034,	0.0	0.0	16		68	0,8244		0,0,4122	no	missense,intron	PRDM7	NM_001098173.1,NM_052996.2	43,	0,5,6022	TT,TC,CC		0.0,0.1312,0.0415	benign,	345/493,	90126948	5,12049	1905	4122	6027	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90126948C>T	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1034G>A	16.37:g.90126948C>T	ENSP00000396732:p.Arg345Gln					PRDM7_uc002fqo.2_Intron|PRDM7_uc010cjf.2_Intron|PRDM7_uc010cjg.1_Missense_Mutation_p.R139Q	p.R345Q	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	9	1054	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	345			SET.		A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.1034G>A	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	7.097	0.573352	0.13623	0.001312	0.0	ENSG00000126856	ENST00000449207	D	0.91011	-2.77	1.34	0.0382	0.14199	SET domain (2);	.	.	.	.	D	0.85461	0.5702	M	0.64630	1.985	0.19575	N	0.999965	B	0.20368	0.044	B	0.09377	0.004	T	0.70543	-0.4843	8	.	.	.	-0.3004	4.4256	0.11501	0.0:0.7289:0.0:0.2711	.	345	Q9NQW5	PRDM7_HUMAN	Q	345	ENSP00000396732:R345Q	.	R	-	2	0	PRDM7	88654449	0.138000	0.22547	0.002000	0.10522	0.515000	0.34225	0.429000	0.21412	-0.171000	0.10797	0.306000	0.20318	CGA		PASS	0.547	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			15	38	15	38	---	---	---	---
ALOX12B	242	broad.mit.edu	37	17	7979001	7979001	+	Silent	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr17:7979001C>A	ENST00000319144.4	-	12	1826	c.1566G>T	c.(1564-1566)ccG>ccT	p.P522P	ALOX12B_ENST00000577351.1_Intron	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	522	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.P522P(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CTGCGTCACTCGGGTAATAAT	0.577										Multiple Myeloma(8;0.094)																												uc002gjy.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1564-1566)CCG>CCT		arachidonate 12-lipoxygenase, 12R type							198.0	190.0	193.0					17																	7979001		2203	4300	6503	SO:0001819	synonymous_variant	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7979001C>A	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1566G>T	17.37:g.7979001C>A		Multiple Myeloma(8;0.094)					p.P522P	NM_001139	NP_001130	O75342	LX12B_HUMAN			12	1827	-			522			Lipoxygenase.			Silent	SNP	ENST00000319144.4	37	c.1566G>T	CCDS11129.1																																																																																				PASS	0.577	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			5	144	5	144	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29684312	29684312	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr17:29684312A>T	ENST00000358273.4	+	54	8278	c.7895A>T	c.(7894-7896)gAt>gTt	p.D2632V	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Missense_Mutation_p.D425V|NF1_ENST00000356175.3_Missense_Mutation_p.D2611V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2632					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.D2632V(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TATACCACAGATGAGTTTGAT	0.358			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(2)	p.D2632E(1)	soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(7894-7896)GAT>GTT		neurofibromin isoform 1							156.0	149.0	152.0					17																	29684312		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29684312A>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7895A>T	17.37:g.29684312A>T	ENSP00000351015:p.Asp2632Val	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.D2611V|NF1_uc010cso.2_Missense_Mutation_p.D820V|NF1_uc010wbt.1_Missense_Mutation_p.D110V|NF1_uc010wbu.1_RNA	p.D2632V	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	54	8228	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2632					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.7895A>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.278780	0.80692	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.68331	1.11;-0.32;1.11;-0.32	5.97	5.97	0.96955	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	M	0.67397	2.05	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.83275	0.994;0.996;0.944	T	0.82536	-0.0408	10	0.87932	D	0	.	15.6255	0.76851	1.0:0.0:0.0:0.0	.	425;2611;2632	B4DXH1;P21359-2;P21359	.;.;NF1_HUMAN	V	2632;2611;2277;425	ENSP00000351015:D2632V;ENSP00000348498:D2611V;ENSP00000389907:D2277V;ENSP00000396481:D425V	ENSP00000348498:D2611V	D	+	2	0	NF1	26708438	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.560000	0.90712	2.277000	0.76020	0.482000	0.46254	GAT		PASS	0.358	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		24	22	24	22	---	---	---	---
MED1	5469	broad.mit.edu	37	17	37565935	37565935	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr17:37565935C>T	ENST00000300651.6	-	17	2762	c.2539G>A	c.(2539-2541)Gga>Aga	p.G847R	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.G847R(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTGGGGCTTCCAGCAGCATCT	0.408										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(2539-2541)GGA>AGA		mediator complex subunit 1							61.0	64.0	63.0					17																	37565935		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37565935C>T	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2539G>A	17.37:g.37565935C>T	ENSP00000300651:p.Gly847Arg	HNSCC(31;0.082)				MED1_uc010wee.1_Missense_Mutation_p.G675R|MED1_uc002hru.2_Intron	p.G847R	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	2751	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	847			Interaction with ESR1.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.2539G>A	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541483	0.45280	.	.	ENSG00000125686	ENST00000300651	T	0.30714	1.52	6.03	6.03	0.97812	.	.	.	.	.	T	0.20820	0.0501	N	0.14661	0.345	0.45097	D	0.998116	P	0.38642	0.641	B	0.34722	0.188	T	0.04017	-1.0984	9	0.17832	T	0.49	-6.8778	20.5666	0.99351	0.0:1.0:0.0:0.0	.	847	Q15648	MED1_HUMAN	R	847	ENSP00000300651:G847R	ENSP00000300651:G847R	G	-	1	0	MED1	34819461	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	4.250000	0.58772	2.854000	0.98071	0.655000	0.94253	GGA		PASS	0.408	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		17	49	17	49	---	---	---	---
CD300LG	146894	broad.mit.edu	37	17	41931189	41931189	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr17:41931189T>A	ENST00000317310.4	+	4	537	c.496T>A	c.(496-498)Tac>Aac	p.Y166N	CD300LG_ENST00000586233.1_Intron|CD300LG_ENST00000377203.4_Missense_Mutation_p.Y132N|CD300LG_ENST00000293396.8_Intron|CD300LG_ENST00000539718.1_Missense_Mutation_p.Y166N	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	166					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Y166N(1)		central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCCTGGGCTCTACCCGGCAGC	0.597																																						uc002iem.2																			1	Substitution - Missense(1)		lung(1)		0						c.(496-498)TAC>AAC		CD300 molecule-like family member g precursor							55.0	50.0	51.0					17																	41931189		2203	4300	6503	SO:0001583	missense	146894					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	g.chr17:41931189T>A	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.496T>A	17.37:g.41931189T>A	ENSP00000321005:p.Tyr166Asn					CD300LG_uc002iel.1_Intron|CD300LG_uc010czk.2_Missense_Mutation_p.Y166N|CD300LG_uc010wil.1_Missense_Mutation_p.Y132N|CD300LG_uc010czl.2_Intron	p.Y166N	NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	4	537	+		Breast(137;0.0199)	166			Extracellular (Potential).		B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP	ENST00000317310.4	37	c.496T>A	CCDS11470.1	.	.	.	.	.	.	.	.	.	.	T	4.330	0.060713	0.08339	.	.	ENSG00000161649	ENST00000317310;ENST00000539718;ENST00000377203	T;T;T	0.05580	3.43;3.42;3.73	3.81	1.62	0.23740	.	0.517985	0.16333	N	0.219023	T	0.02649	0.0080	N	0.08118	0	0.09310	N	1	B;B;B	0.27732	0.119;0.187;0.072	B;B;B	0.21917	0.037;0.037;0.016	T	0.44467	-0.9326	10	0.27785	T	0.31	.	3.8601	0.08991	0.0:0.5963:0.2494:0.1543	.	132;166;166	F8W9M3;F5H7P9;Q6UXG3	.;.;CLM9_HUMAN	N	166;166;132	ENSP00000321005:Y166N;ENSP00000442368:Y166N;ENSP00000366408:Y132N	ENSP00000321005:Y166N	Y	+	1	0	CD300LG	39286715	0.010000	0.17322	0.032000	0.17829	0.461000	0.32589	0.945000	0.29056	0.465000	0.27167	0.459000	0.35465	TAC		PASS	0.597	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		14	8	14	8	---	---	---	---
BRIP1	83990	broad.mit.edu	37	17	59821870	59821870	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr17:59821870G>T	ENST00000259008.2	-	15	2447	c.2180C>A	c.(2179-2181)cCa>cAa	p.P727Q	BRIP1_ENST00000577598.1_Missense_Mutation_p.P727Q	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	727					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P727Q(2)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TCCTCCCTGTGGTTCTACAAT	0.358			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002izk.1			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2179-2181)CCA>CAA	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							158.0	159.0	159.0					17																	59821870		2203	4300	6503	SO:0001583	missense	83990	Fanconi_Anemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59821870G>T	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2180C>A	17.37:g.59821870G>T	ENSP00000259008:p.Pro727Gln					BRIP1_uc002izl.1_Missense_Mutation_p.P108Q	p.P727Q	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			15	2321	-			727					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.2180C>A	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730243	0.48939	.	.	ENSG00000136492	ENST00000259008	T	0.78707	-1.2	5.67	5.67	0.87782	Helicase, ATP-dependent, c2 type (1);	0.000000	0.85682	D	0.000000	D	0.90270	0.6957	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91129	0.4936	9	.	.	.	-13.2847	18.7509	0.91814	0.0:0.0:1.0:0.0	.	727;727	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	Q	727	ENSP00000259008:P727Q	.	P	-	2	0	BRIP1	57176652	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.231000	0.95317	2.661000	0.90470	0.460000	0.39030	CCA		PASS	0.358	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		7	143	7	143	---	---	---	---
GH2	2689	broad.mit.edu	37	17	61958850	61958850	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr17:61958850C>A	ENST00000423893.2	-	2	101	c.40G>T	c.(40-42)Ggc>Tgc	p.G14C	GH2_ENST00000456543.2_Missense_Mutation_p.G14C|GH2_ENST00000449787.2_Missense_Mutation_p.G14C|GH2_ENST00000332800.7_Missense_Mutation_p.G14C			P01242	SOM2_HUMAN	growth hormone 2	14					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.G14C(2)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						CAGAGCAGGCCAAAAGCCAGG	0.622																																						uc002jco.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|pancreas(1)	3						c.(40-42)GGC>TGC		growth hormone 2 isoform 1							90.0	97.0	95.0					17																	61958850		2203	4300	6503	SO:0001583	missense	2689					extracellular region	hormone activity	g.chr17:61958850C>A	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.40G>T	17.37:g.61958850C>A	ENSP00000409294:p.Gly14Cys					GH2_uc002jcj.2_Missense_Mutation_p.G14C|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Missense_Mutation_p.G14C|GH2_uc002jcm.1_Missense_Mutation_p.G14C|GH2_uc002jcn.1_Missense_Mutation_p.G14C	p.G14C	NM_002059	NP_002050	P01242	SOM2_HUMAN			2	102	-			14					B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	c.40G>T	CCDS11647.1	.	.	.	.	.	.	.	.	.	.	c	9.044	0.990411	0.18966	.	.	ENSG00000136487	ENST00000332800;ENST00000456543;ENST00000423893;ENST00000449787	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	2.93	-0.471	0.12119	.	0.866363	0.10172	N	0.706971	D	0.84556	0.5498	N	0.08118	0	0.09310	N	1	B;P;P;P;B	0.50066	0.4;0.906;0.708;0.931;0.4	P;P;P;P;P	0.60068	0.676;0.781;0.676;0.868;0.676	T	0.74731	-0.3566	10	0.87932	D	0	.	7.0887	0.25272	0.0:0.6672:0.0:0.3328	.	14;14;14;14;14	P01242;O14643;O14644;B1A4H7;B1A4H5	SOM2_HUMAN;.;.;.;.	C	14	ENSP00000333157:G14C;ENSP00000394122:G14C;ENSP00000409294:G14C;ENSP00000410618:G14C	ENSP00000333157:G14C	G	-	1	0	GH2	59312582	0.000000	0.05858	0.028000	0.17463	0.062000	0.15995	-1.162000	0.03141	-0.169000	0.10834	0.485000	0.47835	GGC		PASS	0.622	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		6	128	6	128	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62018542	62018542	+	Silent	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr17:62018542G>T	ENST00000435607.1	-	24	5176	c.5100C>A	c.(5098-5100)acC>acA	p.T1700T	SCN4A_ENST00000578147.1_Silent_p.T1700T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1700					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.T1700T(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTCCTCCATGGTCTGCTTGA	0.587																																						uc002jds.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(5098-5100)ACC>ACA		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						146.0	140.0	142.0					17																	62018542		2078	4215	6293	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018542G>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.5100C>A	17.37:g.62018542G>T							p.T1700T	NM_000334	NP_000325	P35499	SCN4A_HUMAN			24	5177	-			1700					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.5100C>A	CCDS45761.1																																																																																				PASS	0.587	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		5	82	5	82	---	---	---	---
RGS9	8787	broad.mit.edu	37	17	63221324	63221324	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr17:63221324C>A	ENST00000262406.9	+	18	1679	c.1612C>A	c.(1612-1614)Cag>Aag	p.Q538K	RGS9_ENST00000443584.3_Missense_Mutation_p.Q535K|RGS9_ENST00000449996.3_Missense_Mutation_p.Q535K	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	538					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.Q538K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GGGCTTGGAGCAGAAAGGGGA	0.682																																						uc002jfe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1612-1614)CAG>AAG		regulator of G-protein signaling 9 isoform 1							83.0	95.0	91.0					17																	63221324		2032	4179	6211	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63221324C>A	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1612C>A	17.37:g.63221324C>A	ENSP00000262406:p.Gln538Lys					RGS9_uc010dem.2_Missense_Mutation_p.Q535K|RGS9_uc002jfd.2_Missense_Mutation_p.Q535K|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.Q309K	p.Q538K	NM_003835	NP_003826	O75916	RGS9_HUMAN			18	1722	+			538					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.1612C>A	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331538	0.24167	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.28255	1.62;1.62	4.29	2.04	0.26737	.	0.916459	0.09259	N	0.826868	T	0.19886	0.0478	L	0.47716	1.5	0.24539	N	0.994078	B;B;B	0.15930	0.003;0.005;0.015	B;B;B	0.12837	0.004;0.004;0.008	T	0.40270	-0.9572	10	0.02654	T	1	.	3.6266	0.08116	0.2793:0.4917:0.1417:0.0873	.	538;538;535	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	K	538;535	ENSP00000262406:Q538K;ENSP00000396329:Q535K	ENSP00000262406:Q538K	Q	+	1	0	RGS9	60651786	0.960000	0.32886	0.685000	0.30070	0.645000	0.38454	0.926000	0.28804	1.075000	0.40932	0.561000	0.74099	CAG		PASS	0.682	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		12	96	12	96	---	---	---	---
DLGAP1	9229	broad.mit.edu	37	18	3534460	3534460	+	Silent	SNP	G	G	T	rs555392340		TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr18:3534460G>T	ENST00000315677.3	-	10	2806	c.2211C>A	c.(2209-2211)tcC>tcA	p.S737S	DLGAP1_ENST00000584874.1_Silent_p.S737S|DLGAP1_ENST00000534970.1_Silent_p.S421S|DLGAP1_ENST00000400150.3_Silent_p.S453S|DLGAP1_ENST00000400147.2_Silent_p.S435S|DLGAP1_ENST00000400155.1_Silent_p.S443S|DLGAP1_ENST00000400149.3_Silent_p.S427S|DLGAP1_ENST00000539435.1_Silent_p.S445S|DLGAP1_ENST00000581527.1_Silent_p.S737S|DLGAP1_ENST00000515196.2_Silent_p.S737S|DLGAP1_ENST00000581699.1_Silent_p.S443S|DLGAP1_ENST00000400145.2_Silent_p.S435S	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	737					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.S737S(1)|p.S445S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TGCTGACTGTGGAGGTGCTGG	0.527																																						uc002kmf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(2209-2211)TCC>TCA		discs large homolog-associated protein 1 isoform							80.0	71.0	74.0					18																	3534460		2203	4300	6503	SO:0001819	synonymous_variant	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3534460G>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2211C>A	18.37:g.3534460G>T						DLGAP1_uc010wyz.1_Silent_p.S737S|DLGAP1_uc002kme.1_Silent_p.S435S|DLGAP1_uc010dkn.2_Silent_p.S445S|DLGAP1_uc010wyw.1_Silent_p.S443S|DLGAP1_uc010wyx.1_Silent_p.S459S|DLGAP1_uc010wyy.1_Silent_p.S421S|DLGAP1_uc002kmg.2_Silent_p.S435S	p.S737S	NM_004746	NP_004737	O14490	DLGP1_HUMAN			7	2278	-		Colorectal(8;0.0257)	737					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	c.2211C>A	CCDS11836.1																																																																																				PASS	0.527	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			4	27	4	27	---	---	---	---
SPIRE1	56907	broad.mit.edu	37	18	12449639	12449639	+	Nonstop_Mutation	SNP	A	A	G			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr18:12449639A>G	ENST00000409402.4	-	17	2536	c.2269T>C	c.(2269-2271)Tga>Cga	p.*757R	RP11-861E21.2_ENST00000588197.1_RNA|RP11-861E21.2_ENST00000589795.1_RNA|SPIRE1_ENST00000453447.2_Nonstop_Mutation_p.*623R|SPIRE1_ENST00000410092.3_Nonstop_Mutation_p.*743R|SPIRE1_ENST00000309836.5_Nonstop_Mutation_p.*546R|SPIRE1_ENST00000464481.1_5'Flank	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1									p.*757R(1)|p.*584R(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CACGAGGCTCAGATCTCACTG	0.542																																						uc002kre.2																			2	Nonstop extension(2)		lung(2)		0						c.(2269-2271)TGA>CGA		spire homolog 1 isoform a							64.0	56.0	58.0					18																	12449639		2203	4300	6503	SO:0001578	stop_lost	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12449639A>G	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.2269T>C	18.37:g.12449639A>G	ENSP00000387266:p.*757Glyext*20					SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Nonstop_Mutation_p.*623R|SPIRE1_uc010wzx.1_Nonstop_Mutation_p.*546R|SPIRE1_uc010wzy.1_Nonstop_Mutation_p.*743R	p.*757R	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN			17	2316	-			757						Nonstop_Mutation	SNP	ENST00000409402.4	37	c.2269T>C	CCDS45829.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.599360	0.87055	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0205	0.80486	1.0:0.0:0.0:0.0	.	.	.	.	R	623;757;743;546	.	.	X	-	1	0	SPIRE1	12439639	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.737000	0.91562	2.194000	0.70268	0.533000	0.62120	TGA		PASS	0.542	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		7	11	7	11	---	---	---	---
DSC3	1825	broad.mit.edu	37	18	28598040	28598040	+	Silent	SNP	T	T	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr18:28598040T>A	ENST00000360428.4	-	9	1340	c.1260A>T	c.(1258-1260)gtA>gtT	p.V420V	DSC3_ENST00000434452.1_Silent_p.V420V	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	420	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.V420V(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ACTGTACCTTTACAACAGAAA	0.303																																						uc002kwj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)	4						c.(1258-1260)GTA>GTT		desmocollin 3 isoform Dsc3a preproprotein							96.0	94.0	95.0					18																	28598040		2202	4294	6496	SO:0001819	synonymous_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28598040T>A	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1260A>T	18.37:g.28598040T>A						DSC3_uc002kwi.3_Silent_p.V420V	p.V420V	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		9	1415	-			420			Cadherin 3.|Extracellular (Potential).		A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	c.1260A>T	CCDS32810.1																																																																																				PASS	0.303	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		14	48	14	48	---	---	---	---
MEP1B	4225	broad.mit.edu	37	18	29793244	29793244	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr18:29793244T>C	ENST00000269202.6	+	11	1348	c.1301T>C	c.(1300-1302)aTa>aCa	p.I434T	MEP1B_ENST00000581447.1_Missense_Mutation_p.I434T	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	434	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.I434T(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATCTGGCATATAAGGAATTTC	0.423																																						uc002kxj.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1300-1302)ATA>ACA		meprin A beta precursor							113.0	107.0	109.0					18																	29793244		1954	4147	6101	SO:0001583	missense	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29793244T>C	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.1301T>C	18.37:g.29793244T>C	ENSP00000269202:p.Ile434Thr						p.I434T	NM_005925	NP_005916	Q16820	MEP1B_HUMAN			11	1348	+			434			Extracellular (Potential).|MATH.		B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	c.1301T>C	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	T	17.65	3.442163	0.63067	.	.	ENSG00000141434	ENST00000269202	T	0.58060	0.36	5.83	4.67	0.58626	TRAF-type (1);TRAF-like (1);MATH (3);	0.143330	0.64402	D	0.000006	T	0.73768	0.3629	M	0.87547	2.89	0.43830	D	0.996403	D	0.71674	0.998	D	0.71870	0.975	T	0.77713	-0.2485	10	0.87932	D	0	-19.5112	11.7428	0.51803	0.0:0.0688:0.0:0.9312	.	434	Q16820	MEP1B_HUMAN	T	434	ENSP00000269202:I434T	ENSP00000269202:I434T	I	+	2	0	MEP1B	28047242	1.000000	0.71417	0.107000	0.21349	0.798000	0.45092	7.698000	0.84413	1.041000	0.40125	0.383000	0.25322	ATA		PASS	0.423	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		8	88	8	88	---	---	---	---
ZNF516	9658	broad.mit.edu	37	18	74091542	74091542	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr18:74091542C>A	ENST00000443185.2	-	4	2845	c.2528G>T	c.(2527-2529)gGg>gTg	p.G843V	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	843					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G843V(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCCCGGCATCCCCCCTGGCAC	0.637																																						uc010dqx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2527-2529)GGG>GTG		zinc finger protein 516							59.0	71.0	67.0					18																	74091542		1926	4116	6042	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091542C>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2528G>T	18.37:g.74091542C>A	ENSP00000394757:p.Gly843Val					ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	p.G843V	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	2763	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	843						Missense_Mutation	SNP	ENST00000443185.2	37	c.2528G>T		.	.	.	.	.	.	.	.	.	.	C	10.08	1.252309	0.22880	.	.	ENSG00000101493	ENST00000443185	T	0.10005	2.92	4.31	2.5	0.30297	.	0.345908	0.25744	N	0.028592	T	0.19005	0.0456	.	.	.	0.09310	N	0.999994	D	0.65815	0.995	P	0.55615	0.78	T	0.03175	-1.1064	9	0.59425	D	0.04	-3.0E-4	8.1467	0.31115	0.0:0.5626:0.3478:0.0897	.	843	Q92618	ZN516_HUMAN	V	843	ENSP00000394757:G843V	ENSP00000394757:G843V	G	-	2	0	ZNF516	72220530	0.003000	0.15002	0.000000	0.03702	0.328000	0.28507	1.179000	0.31993	0.552000	0.29026	0.561000	0.74099	GGG		PASS	0.637	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		4	25	4	25	---	---	---	---
DCAF15	90379	broad.mit.edu	37	19	14069902	14069902	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr19:14069902C>T	ENST00000254337.6	+	7	851	c.830C>T	c.(829-831)cCc>cTc	p.P277L		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	277					protein ubiquitination (GO:0016567)			p.P277L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						AGCACCTGCCCCCTGGCGCCT	0.657																																						uc002mxt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(829-831)CCC>CTC		DDB1 and CUL4 associated factor 15							50.0	58.0	56.0					19																	14069902		2203	4300	6503	SO:0001583	missense	90379							g.chr19:14069902C>T	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.830C>T	19.37:g.14069902C>T	ENSP00000254337:p.Pro277Leu					DCAF15_uc002mxu.2_5'Flank	p.P277L	NM_138353	NP_612362	Q66K64	DCA15_HUMAN			7	836	+			277					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.830C>T	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	c	11.33	1.607751	0.28623	.	.	ENSG00000132017	ENST00000254337	.	.	.	5.14	5.14	0.70334	.	0.382508	0.22272	N	0.062245	T	0.35307	0.0927	N	0.24115	0.695	0.20764	N	0.999853	B	0.06786	0.001	B	0.08055	0.003	T	0.08391	-1.0724	9	0.18276	T	0.48	-17.8279	17.3624	0.87355	0.0:1.0:0.0:0.0	.	277	Q66K64	DCA15_HUMAN	L	277	.	ENSP00000254337:P277L	P	+	2	0	DCAF15	13930902	0.009000	0.17119	0.044000	0.18714	0.401000	0.30781	2.354000	0.44098	2.396000	0.81511	0.561000	0.74099	CCC		PASS	0.657	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		7	79	7	79	---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17759368	17759368	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr19:17759368G>A	ENST00000519716.2	-	16	1687	c.1688C>T	c.(1687-1689)aCg>aTg	p.T563M	UNC13A_ENST00000550896.1_Missense_Mutation_p.T561M|UNC13A_ENST00000551649.1_Missense_Mutation_p.T563M|UNC13A_ENST00000252773.7_Missense_Mutation_p.T563M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T563M|UNC13A_ENST00000428389.2_Missense_Mutation_p.T651M	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	563					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.T563M(1)|p.T651M(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GTAGGTGGGCGTGGTGGCCGT	0.602																																						uc002nhd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1951-1953)ACG>ATG		unc-13 homolog A							110.0	126.0	120.0					19																	17759368		2199	4298	6497	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17759368G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1688C>T	19.37:g.17759368G>A	ENSP00000429562:p.Thr563Met						p.T651M	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			16	1952	-			563			Phorbol-ester/DAG-type.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.1952C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426685	0.83667	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1;-3.1	4.35	3.28	0.37604	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	U	0.000000	D	0.94231	0.8148	M	0.75615	2.305	0.42127	D	0.991451	D	0.71674	0.998	P	0.59424	0.857	D	0.94145	0.7400	10	0.87932	D	0	-18.09	11.4562	0.50183	0.0:0.0:0.8179:0.182	.	563	Q9UPW8	UN13A_HUMAN	M	563;651;563;563;563;561	ENSP00000429562:T563M;ENSP00000400409:T651M;ENSP00000252773:T563M;ENSP00000447236:T563M;ENSP00000447572:T563M;ENSP00000446831:T561M	ENSP00000252773:T563M	T	-	2	0	UNC13A	17620368	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.560000	0.98139	0.911000	0.36747	0.486000	0.48141	ACG		PASS	0.602	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		7	28	7	28	---	---	---	---
ELL	8178	broad.mit.edu	37	19	18555600	18555600	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr19:18555600C>T	ENST00000262809.4	-	12	1899	c.1828G>A	c.(1828-1830)Gcc>Acc	p.A610T	ELL_ENST00000596124.3_Missense_Mutation_p.A477T|CTD-3137H5.1_ENST00000594590.2_RNA	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	610					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)	p.A610T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		TCGTACTCGGCGATGAGCCTC	0.637			T	MLL	AL																																	uc002njh.2				Dom	yes		19	19p13.1	8178	T	ELL gene (11-19 lysine-rich leukemia gene)			L	MLL		AL		1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1828-1830)GCC>ACC		elongation factor RNA polymerase II							106.0	86.0	93.0					19																	18555600		2203	4300	6503	SO:0001583	missense	8178				positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding	g.chr19:18555600C>T	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1828G>A	19.37:g.18555600C>T	ENSP00000262809:p.Ala610Thr					ELL_uc010ebq.2_Missense_Mutation_p.A553T|ELL_uc002njg.2_Missense_Mutation_p.A477T	p.A610T	NM_006532	NP_006523	P55199	ELL_HUMAN		GBM - Glioblastoma multiforme(1328;7.81e-07)	12	1900	-			610						Missense_Mutation	SNP	ENST00000262809.4	37	c.1828G>A	CCDS12380.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419279	0.83559	.	.	ENSG00000105656	ENST00000262809	T	0.22134	1.97	4.87	4.87	0.63330	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.000000	0.85682	D	0.000000	T	0.39759	0.1090	L	0.46741	1.465	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.79108	0.955;0.992	T	0.07888	-1.0749	10	0.39692	T	0.17	-11.1537	16.6222	0.84933	0.0:1.0:0.0:0.0	.	554;610	Q59HG4;P55199	.;ELL_HUMAN	T	610	ENSP00000262809:A610T	ENSP00000262809:A610T	A	-	1	0	ELL	18416600	1.000000	0.71417	0.899000	0.35326	0.873000	0.50193	3.837000	0.55820	2.268000	0.75426	0.466000	0.42574	GCC		PASS	0.637	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532		11	13	11	13	---	---	---	---
ZNF792	126375	broad.mit.edu	37	19	35451839	35451839	+	Silent	SNP	G	G	T	rs200051757	byFrequency	TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr19:35451839G>T	ENST00000404801.1	-	2	479	c.93C>A	c.(91-93)ctC>ctA	p.L31L	ZNF792_ENST00000605484.1_5'Flank	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L31L(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAGCCTCATCGAGGAGCACCC	0.557																																					GBM(1;7 183 21053 22581 22847)	uc002nxh.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(91-93)CTC>CTA		zinc finger protein 792							177.0	161.0	167.0					19																	35451839		2203	4300	6503	SO:0001819	synonymous_variant	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35451839G>T	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.93C>A	19.37:g.35451839G>T							p.L31L	NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		2	480	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		31			KRAB.		B4E333|Q495L1|Q495L3|Q8N932	Silent	SNP	ENST00000404801.1	37	c.93C>A	CCDS12440.2																																																																																				PASS	0.557	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		5	246	5	246	---	---	---	---
CD22	933	broad.mit.edu	37	19	35822955	35822955	+	Silent	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr19:35822955C>A	ENST00000085219.5	+	2	78	c.12C>A	c.(10-12)ctC>ctA	p.L4L	U62631.5_ENST00000597110.1_RNA|CD22_ENST00000536635.2_Silent_p.L4L|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000544992.2_Silent_p.L4L|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000341773.6_Silent_p.L4L|CD22_ENST00000419549.2_Intron|CD22_ENST00000594250.1_Silent_p.L4L	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	4					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.L4L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGCATCTCCTCGGCCCCTGGC	0.592																																					Ovarian(42;1009 1133 23674 26041)	uc010edt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(3)|breast(1)	9						c.(10-12)CTC>CTA		CD22 molecule precursor	OspA lipoprotein(DB00045)						154.0	132.0	139.0					19																	35822955		2203	4300	6503	SO:0001819	synonymous_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35822955C>A	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.12C>A	19.37:g.35822955C>A						CD22_uc010xst.1_5'UTR|CD22_uc010edu.2_Silent_p.L4L|CD22_uc010edv.2_Silent_p.L4L|CD22_uc002nzb.3_Silent_p.L4L	p.L4L	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		2	89	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		4					F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	c.12C>A	CCDS12457.1																																																																																				PASS	0.592	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		6	349	6	349	---	---	---	---
COX6B1	1340	broad.mit.edu	37	19	36142160	36142160	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr19:36142160G>T	ENST00000592141.1	+	2	280	c.15G>T	c.(13-15)atG>atT	p.M5I	COX6B1_ENST00000246554.3_Missense_Mutation_p.M5I|COX6B1_ENST00000392201.1_Missense_Mutation_p.M5I			P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	5					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)	p.M22I(1)|p.M5I(1)		lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGGAAGACATGGAGACCAAAA	0.567																																						uc002oav.2																			2	Substitution - Missense(2)		lung(2)		0						c.(13-15)ATG>ATT		cytochrome c oxidase subunit VIb polypeptide 1							93.0	80.0	84.0					19																	36142160		2203	4300	6503	SO:0001583	missense	1340				respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity	g.chr19:36142160G>T	BC001015	CCDS12469.1	19q13.1	2011-07-04	2010-01-07	2004-08-12	ENSG00000126267	ENSG00000126267	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2280	protein-coding gene	gene with protein product		124089	"""cytochrome c oxidase subunit Vib"", ""cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous)"""	COX6B		1650756	Standard	NM_001863		Approved	COXG	uc002oav.3	P14854	OTTHUMG00000048112	ENST00000592141.1:c.15G>T	19.37:g.36142160G>T	ENSP00000466818:p.Met5Ile						p.M5I	NM_001863	NP_001854	P14854	CX6B1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	177	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		5					B2R5C9|Q6IBL4	Missense_Mutation	SNP	ENST00000592141.1	37	c.15G>T	CCDS12469.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.050866	0.00394	.	.	ENSG00000126267	ENST00000246554;ENST00000392201	T	0.81415	-1.49	5.31	1.97	0.26223	.	0.060876	0.64402	N	0.000005	T	0.63070	0.2480	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43196	-0.9406	9	0.17832	T	0.49	0.0957	5.835	0.18601	0.0:0.5319:0.3008:0.1674	.	5	P14854	CX6B1_HUMAN	I	5;22	ENSP00000246554:M5I	ENSP00000246554:M5I	M	+	3	0	COX6B1	40834000	0.149000	0.22717	0.994000	0.49952	0.115000	0.19883	0.285000	0.18883	0.013000	0.14918	-2.094000	0.00368	ATG		PASS	0.567	COX6B1-004	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459068.3	NM_001863		6	176	6	176	---	---	---	---
HKR1	284459	broad.mit.edu	37	19	37853645	37853645	+	Silent	SNP	G	G	C	rs200269969		TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr19:37853645G>C	ENST00000324411.4	+	6	1217	c.948G>C	c.(946-948)ctG>ctC	p.L316L	HKR1_ENST00000544914.1_Silent_p.L43L|HKR1_ENST00000591471.1_Silent_p.L43L|HKR1_ENST00000589392.1_Silent_p.L298L|HKR1_ENST00000541583.2_Silent_p.L255L|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000392153.3_Silent_p.L297L	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	316					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L316L(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTCAAACCTGATCACACATC	0.498																																						uc002ogb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(946-948)CTG>CTC		GLI-Kruppel family member HKR1							105.0	99.0	101.0					19																	37853645		2203	4300	6503	SO:0001819	synonymous_variant	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37853645G>C	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.948G>C	19.37:g.37853645G>C						HKR1_uc002ofx.2_Silent_p.L32L|HKR1_uc002ofy.2_Silent_p.L32L|HKR1_uc002oga.2_Silent_p.L298L|HKR1_uc010xto.1_Silent_p.L298L|HKR1_uc002ogc.2_Silent_p.L297L|HKR1_uc010xtp.1_Silent_p.L255L|HKR1_uc002ogd.2_Silent_p.L255L	p.L316L	NM_181786	NP_861451	P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1217	+			316			C2H2-type 1.		A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Silent	SNP	ENST00000324411.4	37	c.948G>C	CCDS12502.1																																																																																				PASS	0.498	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		11	202	11	202	---	---	---	---
ZNF527	84503	broad.mit.edu	37	19	37880525	37880525	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr19:37880525C>A	ENST00000436120.2	+	5	1681	c.1574C>A	c.(1573-1575)cCc>cAc	p.P525H	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	525					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P525H(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAGAGAAACCCTATGAATGT	0.393																																						uc010efk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1573-1575)CCC>CAC		zinc finger protein 527							88.0	97.0	94.0					19																	37880525		2198	4295	6493	SO:0001583	missense	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37880525C>A	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1574C>A	19.37:g.37880525C>A	ENSP00000390179:p.Pro525His					ZNF527_uc002ogf.3_Missense_Mutation_p.P493H|ZNF527_uc010xtq.1_RNA	p.P525H	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1685	+			525					B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.1574C>A	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901436	0.72754	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	3.84	3.84	0.44239	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34088	N	0.004272	D	0.83801	0.5333	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.969	D	0.87961	0.2730	9	0.87932	D	0	.	14.6945	0.69110	0.0:1.0:0.0:0.0	.	525;493	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	H	525;493;473	.	ENSP00000325231:P493H	P	+	2	0	ZNF527	42572365	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.152000	0.64882	1.997000	0.58415	0.655000	0.94253	CCC		PASS	0.393	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		7	196	7	196	---	---	---	---
ZNF540	163255	broad.mit.edu	37	19	38103316	38103316	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr19:38103316G>T	ENST00000592533.1	+	5	1467	c.1135G>T	c.(1135-1137)Ggt>Tgt	p.G379C	ZNF540_ENST00000316433.4_Missense_Mutation_p.G379C|ZNF540_ENST00000343599.5_Missense_Mutation_p.G379C|ZNF540_ENST00000589117.1_Missense_Mutation_p.G347C	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	379					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)	p.G379C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AACTCATGCAGGTAAGAAACC	0.368																																						uc002ogq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1135-1137)GGT>TGT		zinc finger protein 540							83.0	82.0	82.0					19																	38103316		2203	4300	6503	SO:0001583	missense	163255				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38103316G>T	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1135G>T	19.37:g.38103316G>T	ENSP00000466274:p.Gly379Cys					ZNF540_uc002ogu.2_Missense_Mutation_p.G379C|ZNF540_uc010efq.2_Missense_Mutation_p.G347C	p.G379C	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1467	+			379					A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	c.1135G>T	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320902	0.81469	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.26660	1.72	2.39	1.31	0.21738	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53867	0.1823	M	0.91038	3.17	0.32921	D	0.515755	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.63603	-0.6600	9	0.87932	D	0	.	7.8813	0.29624	0.1374:0.0:0.8626:0.0	.	347;379	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	C	379;347	ENSP00000324598:G379C	ENSP00000324598:G379C	G	+	1	0	ZNF540	42795156	0.055000	0.20627	0.004000	0.12327	0.983000	0.72400	1.333000	0.33816	0.316000	0.23135	0.305000	0.20034	GGT		PASS	0.368	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		8	120	8	120	---	---	---	---
MAP4K1	11184	broad.mit.edu	37	19	39090611	39090611	+	Silent	SNP	C	C	G			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr19:39090611C>G	ENST00000591517.1	-	22	1651	c.1623G>C	c.(1621-1623)cgG>cgC	p.R541R	MAP4K1_ENST00000589130.1_Silent_p.R537R|MAP4K1_ENST00000396857.2_Silent_p.R541R|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000423454.2_Intron|MAP4K1_ENST00000586296.1_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	541	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R541R(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCACGTAGTCCGGCTAGGAA	0.602																																						uc002oix.1																			2	Substitution - coding silent(2)		lung(2)	skin(4)|lung(3)|ovary(1)	8						c.(1621-1623)CGG>CGC		mitogen-activated protein kinase kinase kinase							118.0	124.0	122.0					19																	39090611		2069	4212	6281	SO:0001819	synonymous_variant	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39090611C>G	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1623G>C	19.37:g.39090611C>G						MAP4K1_uc002oiw.1_Silent_p.R128R|MAP4K1_uc002oiy.1_Silent_p.R541R|MAP4K1_uc010xug.1_Intron	p.R541R	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		22	1731	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		541			CNH.			Silent	SNP	ENST00000591517.1	37	c.1623G>C	CCDS59385.1																																																																																				PASS	0.602	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		26	151	26	151	---	---	---	---
MAP4K1	11184	broad.mit.edu	37	19	39090744	39090744	+	Silent	SNP	C	C	G			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr19:39090744C>G	ENST00000591517.1	-	21	1609	c.1581G>C	c.(1579-1581)cgG>cgC	p.R527R	MAP4K1_ENST00000589130.1_Silent_p.R523R|MAP4K1_ENST00000396857.2_Silent_p.R527R|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000423454.2_Silent_p.R189R|MAP4K1_ENST00000586296.1_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	527	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R527R(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTGGTCATTCCGGTTCAGGA	0.632																																						uc002oix.1																			2	Substitution - coding silent(2)		lung(2)	skin(4)|lung(3)|ovary(1)	8						c.(1579-1581)CGG>CGC		mitogen-activated protein kinase kinase kinase							58.0	60.0	60.0					19																	39090744		2056	4195	6251	SO:0001819	synonymous_variant	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39090744C>G	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1581G>C	19.37:g.39090744C>G						MAP4K1_uc002oiw.1_Silent_p.R114R|MAP4K1_uc002oiy.1_Silent_p.R527R|MAP4K1_uc010xug.1_Silent_p.R189R	p.R527R	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		21	1689	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		527			CNH.			Silent	SNP	ENST00000591517.1	37	c.1581G>C	CCDS59385.1																																																																																				PASS	0.632	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		6	41	6	41	---	---	---	---
MAP4K1	11184	broad.mit.edu	37	19	39090770	39090770	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr19:39090770C>G	ENST00000591517.1	-	21	1583	c.1555G>C	c.(1555-1557)Gag>Cag	p.E519Q	MAP4K1_ENST00000589130.1_Missense_Mutation_p.E515Q|MAP4K1_ENST00000396857.2_Missense_Mutation_p.E519Q|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000423454.2_Missense_Mutation_p.E181Q|MAP4K1_ENST00000586296.1_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	519	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.E519Q(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATGCCTTCCTCTGCCCCCAGG	0.622																																						uc002oix.1																			2	Substitution - Missense(2)		lung(2)	skin(4)|lung(3)|ovary(1)	8						c.(1555-1557)GAG>CAG		mitogen-activated protein kinase kinase kinase							48.0	50.0	49.0					19																	39090770		2058	4192	6250	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39090770C>G	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1555G>C	19.37:g.39090770C>G	ENSP00000465039:p.Glu519Gln					MAP4K1_uc002oiw.1_Missense_Mutation_p.E106Q|MAP4K1_uc002oiy.1_Missense_Mutation_p.E519Q|MAP4K1_uc010xug.1_Missense_Mutation_p.E181Q	p.E519Q	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		21	1663	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		519			CNH.			Missense_Mutation	SNP	ENST00000591517.1	37	c.1555G>C	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	.	26.8	4.768364	0.90020	.	.	ENSG00000104814	ENST00000396857;ENST00000221409;ENST00000423454	T;T	0.06933	3.24;3.24	4.93	4.93	0.64822	Citron-like (3);	0.058715	0.64402	D	0.000004	T	0.30230	0.0758	M	0.78344	2.41	0.51012	D	0.999901	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.996;0.997;0.998	T	0.01899	-1.1251	10	0.87932	D	0	.	15.2164	0.73270	0.0:1.0:0.0:0.0	.	181;519;519	B4E087;Q92918-2;Q92918	.;.;M4K1_HUMAN	Q	519;519;181	ENSP00000380066:E519Q;ENSP00000396383:E181Q	ENSP00000221409:E519Q	E	-	1	0	MAP4K1	43782610	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.603000	0.67619	2.578000	0.87016	0.555000	0.69702	GAG		PASS	0.622	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		6	40	6	40	---	---	---	---
CCDC8	83987	broad.mit.edu	37	19	46915941	46915941	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr19:46915941G>C	ENST00000307522.3	-	1	900	c.127C>G	c.(127-129)Cag>Gag	p.Q43E		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	43					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.Q43E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		tccaggaactgggtcagccgc	0.647																																						uc002pep.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(127-129)CAG>GAG		coiled-coil domain containing 8							50.0	55.0	54.0					19																	46915941		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46915941G>C	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.127C>G	19.37:g.46915941G>C	ENSP00000303158:p.Gln43Glu						p.Q43E	NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	979	-			43					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.127C>G	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736664	0.69304	.	.	ENSG00000169515	ENST00000307522;ENST00000540252	T	0.07567	3.18	4.26	4.26	0.50523	.	0.000000	0.38436	N	0.001694	T	0.14313	0.0346	M	0.64997	1.995	0.29284	N	0.869834	D	0.58268	0.982	P	0.51833	0.681	T	0.04078	-1.0979	10	0.10111	T	0.7	-15.6743	12.8891	0.58061	0.0:0.0:1.0:0.0	.	43	Q9H0W5	CCDC8_HUMAN	E	43	ENSP00000303158:Q43E	ENSP00000303158:Q43E	Q	-	1	0	CCDC8	51607781	1.000000	0.71417	0.987000	0.45799	0.935000	0.57460	4.999000	0.63934	2.298000	0.77334	0.491000	0.48974	CAG		PASS	0.647	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		23	5	23	5	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56467436	56467436	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr19:56467436A>T	ENST00000291971.3	+	3	2083	c.2012A>T	c.(2011-2013)aAg>aTg	p.K671M	NLRP8_ENST00000590542.1_Missense_Mutation_p.K671M	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	671					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.K671M(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AACGTGTGGAAGCTCAGCTCC	0.532																																						uc002qmh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(2011-2013)AAG>ATG		NLR family, pyrin domain containing 8							114.0	106.0	109.0					19																	56467436		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56467436A>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2012A>T	19.37:g.56467436A>T	ENSP00000291971:p.Lys671Met					NLRP8_uc010etg.2_Missense_Mutation_p.K671M	p.K671M	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	2083	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	671					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2012A>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	A	7.106	0.575131	0.13623	.	.	ENSG00000179709	ENST00000291971	T	0.75050	-0.9	2.03	-4.06	0.03986	.	.	.	.	.	T	0.51329	0.1668	N	0.08118	0	0.09310	N	1	P;P	0.47604	0.898;0.865	P;B	0.47075	0.536;0.106	T	0.47548	-0.9109	9	0.51188	T	0.08	.	0.7605	0.01006	0.2391:0.2765:0.3172:0.1672	.	671;671	Q86W28-2;Q86W28	.;NALP8_HUMAN	M	671	ENSP00000291971:K671M	ENSP00000291971:K671M	K	+	2	0	NLRP8	61159248	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.113000	0.01331	-1.537000	0.01736	0.416000	0.27883	AAG		PASS	0.532	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		31	8	31	8	---	---	---	---
ZNF582	147948	broad.mit.edu	37	19	56901403	56901403	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr19:56901403C>A	ENST00000301310.4	-	4	357	c.199G>T	c.(199-201)Gtg>Ttg	p.V67L	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Missense_Mutation_p.V67L	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V67L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		ACTCTCTCCACCATCCAGGGC	0.542																																					Ovarian(183;1887 2032 4349 30507 51343)	uc002qmz.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(199-201)GTG>TTG		zinc finger protein 582							108.0	96.0	100.0					19																	56901403		2203	4300	6503	SO:0001583	missense	147948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56901403C>A	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.199G>T	19.37:g.56901403C>A	ENSP00000301310:p.Val67Leu					ZNF582_uc002qmy.2_Missense_Mutation_p.V98L	p.V67L	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN		GBM - Glioblastoma multiforme(193;0.0547)	4	358	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	67			KRAB.		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	c.199G>T	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386581	0.25031	.	.	ENSG00000018869	ENST00000301310	T	0.05139	3.49	4.54	0.936	0.19488	Krueppel-associated box (1);	.	.	.	.	T	0.03348	0.0097	N	0.05554	-0.025	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.08055	0.003;0.003	T	0.42749	-0.9433	9	0.39692	T	0.17	.	7.335	0.26605	0.0:0.4158:0.4828:0.1014	.	67;98	Q96NG8;B4DQZ9	ZN582_HUMAN;.	L	67	ENSP00000301310:V67L	ENSP00000301310:V67L	V	-	1	0	ZNF582	61593215	0.000000	0.05858	0.001000	0.08648	0.235000	0.25334	-0.444000	0.06854	0.619000	0.30197	0.655000	0.94253	GTG		PASS	0.542	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		3	26	3	26	---	---	---	---
SPTLC3	55304	broad.mit.edu	37	20	13090814	13090814	+	Silent	SNP	A	A	G			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr20:13090814A>G	ENST00000399002.2	+	7	1156	c.882A>G	c.(880-882)cgA>cgG	p.R294R	SPTLC3_ENST00000378194.4_Silent_p.R294R	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	294					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.R294R(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						GCCAGCCTCGAACCCGCAGAG	0.438																																						uc002wod.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(880-882)CGA>CGG		serine palmitoyltransferase, long chain base	Pyridoxal Phosphate(DB00114)						61.0	63.0	63.0					20																	13090814		1888	4112	6000	SO:0001819	synonymous_variant	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13090814A>G	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.882A>G	20.37:g.13090814A>G							p.R294R	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN			7	1171	+			294					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Silent	SNP	ENST00000399002.2	37	c.882A>G	CCDS13115.2																																																																																				PASS	0.438	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		9	20	9	20	---	---	---	---
SNAI1	6615	broad.mit.edu	37	20	48600418	48600418	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr20:48600418C>T	ENST00000244050.2	+	2	201	c.140C>T	c.(139-141)cCg>cTg	p.P47L		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	47					cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.P47L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			ATCCCACCTCCGGAGATCCTC	0.597																																						uc002xuz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(139-141)CCG>CTG		snail 1 homolog							55.0	57.0	56.0					20																	48600418		2203	4300	6503	SO:0001583	missense	6615				epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding	g.chr20:48600418C>T	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11128	protein-coding gene	gene with protein product		604238	"""snail 1 (drosophila homolog), zinc finger protein"", ""snail homolog 1 (Drosophila)"""			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.140C>T	20.37:g.48600418C>T	ENSP00000244050:p.Pro47Leu						p.P47L	NM_005985	NP_005976	O95863	SNAI1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		2	210	+			47					B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	ENST00000244050.2	37	c.140C>T	CCDS13423.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089957	0.76756	.	.	ENSG00000124216	ENST00000244050	T	0.22336	1.96	4.86	4.86	0.63082	.	0.316184	0.30210	N	0.010150	T	0.44180	0.1281	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.18618	-1.0331	10	0.27082	T	0.32	-31.5239	18.0022	0.89200	0.0:1.0:0.0:0.0	.	47	O95863	SNAI1_HUMAN	L	47	ENSP00000244050:P47L	ENSP00000244050:P47L	P	+	2	0	SNAI1	48033825	0.974000	0.33945	0.092000	0.20876	0.882000	0.50991	4.173000	0.58249	2.247000	0.74100	0.650000	0.86243	CCG		PASS	0.597	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080350.1			17	29	17	29	---	---	---	---
ZNF280A	129025	broad.mit.edu	37	22	22868913	22868913	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr22:22868913G>T	ENST00000302097.3	-	2	1294	c.1042C>A	c.(1042-1044)Cag>Aag	p.Q348K		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q348K(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CACTGTAGCTGGAAGGGAGTG	0.493																																						uc002zwe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1042-1044)CAG>AAG		zinc finger protein 280A							137.0	124.0	128.0					22																	22868913		2203	4300	6503	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22868913G>T	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1042C>A	22.37:g.22868913G>T	ENSP00000302855:p.Gln348Lys					LOC96610_uc011aim.1_Intron	p.Q348K	NM_080740	NP_542778	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	1295	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	348			C2H2-type 1.			Missense_Mutation	SNP	ENST00000302097.3	37	c.1042C>A	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857767	0.51376	.	.	ENSG00000169548	ENST00000302097	T	0.01240	5.12	3.9	2.85	0.33270	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.02012	0.0063	L	0.51914	1.62	0.27361	N	0.955957	P	0.37015	0.578	B	0.34385	0.181	T	0.40534	-0.9558	9	0.48119	T	0.1	-4.3584	11.6379	0.51215	0.0:0.1816:0.8183:0.0	.	348	P59817	Z280A_HUMAN	K	348	ENSP00000302855:Q348K	ENSP00000302855:Q348K	Q	-	1	0	ZNF280A	21198913	1.000000	0.71417	0.984000	0.44739	0.710000	0.40934	5.406000	0.66357	1.166000	0.42689	0.655000	0.94253	CAG		PASS	0.493	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		6	67	6	67	---	---	---	---
CABIN1	23523	broad.mit.edu	37	22	24434905	24434905	+	Missense_Mutation	SNP	G	G	A	rs559933959		TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr22:24434905G>A	ENST00000398319.2	+	4	591	c.206G>A	c.(205-207)cGg>cAg	p.R69Q	CABIN1_ENST00000405822.2_Missense_Mutation_p.R69Q|CABIN1_ENST00000263119.5_Missense_Mutation_p.R69Q	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	69					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.R69Q(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCCTGCTGCGGGAGGTGAGG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		17732	0.0		0.0	False		,,,				2504	0.001					uc002zzi.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(205-207)CGG>CAG		calcineurin binding protein 1							65.0	59.0	61.0					22																	24434905		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24434905G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.206G>A	22.37:g.24434905G>A	ENSP00000381364:p.Arg69Gln					CABIN1_uc002zzj.1_Missense_Mutation_p.R69Q|CABIN1_uc002zzl.1_Missense_Mutation_p.R69Q|CABIN1_uc010guk.1_Missense_Mutation_p.R69Q|CABIN1_uc002zzk.1_Missense_Mutation_p.R69Q	p.R69Q	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			4	333	+			69			TPR 1.		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.206G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553928	0.45487	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.73681	-0.77;0.21;0.02;-0.77;0.21	5.06	5.06	0.68205	Tetratricopeptide-like helical (1);	0.116302	0.64402	D	0.000015	T	0.48537	0.1505	N	0.03608	-0.345	0.80722	D	1	B;B;B;B	0.29037	0.231;0.121;0.134;0.082	B;B;B;B	0.20767	0.016;0.01;0.031;0.014	T	0.51020	-0.8758	10	0.27785	T	0.31	.	11.3682	0.49684	0.0833:0.0:0.9167:0.0	.	69;69;69;69	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	Q	69	ENSP00000394209:R69Q;ENSP00000263119:R69Q;ENSP00000384694:R69Q;ENSP00000412389:R69Q;ENSP00000381364:R69Q	ENSP00000263119:R69Q	R	+	2	0	CABIN1	22764905	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	4.897000	0.63231	2.552000	0.86080	0.650000	0.86243	CGG		PASS	0.577	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		23	21	23	21	---	---	---	---
GCAT	23464	broad.mit.edu	37	22	38211693	38211693	+	Missense_Mutation	SNP	C	C	T	rs369199038		TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr22:38211693C>T	ENST00000248924.6	+	7	894	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	GCAT_ENST00000323205.6_Missense_Mutation_p.P306S	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	280					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)	p.P280S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	AGGGCCTGGGCCCCTGGTGTC	0.652																																						uc003atz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(838-840)CCC>TCC		glycine C-acetyltransferase precursor	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	C	SER/PRO,SER/PRO	0,4406		0,0,2203	57.0	66.0	63.0		838,916	-0.1	0.1	22		63	1,8597		0,1,4298	no	missense,missense	GCAT	NM_014291.3,NM_001171690.1	74,74	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	280/420,306/446	38211693	1,13003	2203	4299	6502	SO:0001583	missense	23464				biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr22:38211693C>T	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.838C>T	22.37:g.38211693C>T	ENSP00000248924:p.Pro280Ser					GCAT_uc003aua.1_Missense_Mutation_p.P306S	p.P280S	NM_014291	NP_055106	O75600	KBL_HUMAN			7	858	+	Melanoma(58;0.045)		280					E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	ENST00000248924.6	37	c.838C>T	CCDS13957.1	.	.	.	.	.	.	.	.	.	.	C	9.398	1.077248	0.20227	0.0	1.16E-4	ENSG00000100116	ENST00000323205;ENST00000248924	D;D	0.94828	-3.53;-3.53	4.72	-0.0993	0.13624	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.467958	0.25430	N	0.030730	D	0.87842	0.6279	N	0.26130	0.795	0.20703	N	0.999861	B;B	0.02656	0.0;0.0	B;B	0.12837	0.008;0.005	T	0.79843	-0.1632	10	0.66056	D	0.02	-10.5803	8.2516	0.31730	0.0:0.5032:0.2776:0.2192	.	306;280	E2QC23;O75600	.;KBL_HUMAN	S	306;280	ENSP00000371110:P306S;ENSP00000248924:P280S	ENSP00000248924:P280S	P	+	1	0	GCAT	36541639	0.000000	0.05858	0.069000	0.20011	0.567000	0.35839	0.110000	0.15437	0.227000	0.20999	-0.254000	0.11334	CCC		PASS	0.652	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		15	49	15	49	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40660695	40660695	+	Nonsense_Mutation	SNP	C	C	G			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr22:40660695C>G	ENST00000454349.2	+	5	672	c.461C>G	c.(460-462)tCa>tGa	p.S154*	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Nonsense_Mutation_p.S154*|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	154	Interaction with argonaute proteins.				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)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						TCCCCAGACTCAACCCTTGGA	0.498																																						uc011aor.1																			0					0						c.(460-462)TCA>TGA		trinucleotide repeat containing 6B isoform 1							37.0	35.0	36.0					22																	40660695		1872	4118	5990	SO:0001587	stop_gained	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40660695C>G	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.461C>G	22.37:g.40660695C>G	ENSP00000401946:p.Ser154*					TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Nonsense_Mutation_p.S154*|TNRC6B_uc003ayo.2_5'UTR	p.S154*	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN			5	672	+			154					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Nonsense_Mutation	SNP	ENST00000454349.2	37	c.461C>G	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	36	5.779754	0.96929	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	.	.	.	5.44	4.41	0.53225	.	0.156720	0.44902	D	0.000414	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-0.2884	14.7002	0.69150	0.1461:0.8539:0.0:0.0	.	.	.	.	X	154	.	ENSP00000338371:S154X	S	+	2	0	TNRC6B	38990641	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.881000	0.48538	1.288000	0.44600	0.650000	0.86243	TCA		PASS	0.498	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				7	40	7	40	---	---	---	---
MED14	9282	broad.mit.edu	37	X	40534580	40534580	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chrX:40534580C>T	ENST00000324817.1	-	22	3032	c.2914G>A	c.(2914-2916)Gat>Aat	p.D972N	MED14_ENST00000496531.2_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	972					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.D972N(1)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTCGAGCATCCTGATTGCTG	0.363																																						uc004dex.3																			1	Substitution - Missense(1)		lung(1)	breast(2)|kidney(1)|skin(1)	4						c.(2914-2916)GAT>AAT		mediator complex subunit 14							71.0	59.0	63.0					X																	40534580		2203	4300	6503	SO:0001583	missense	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40534580C>T	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.2914G>A	X.37:g.40534580C>T	ENSP00000323720:p.Asp972Asn						p.D972N	NM_004229	NP_004220	O60244	MED14_HUMAN			22	3054	-			972					Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.2914G>A	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501103	0.44455	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	N	0.22421	0.69	0.80722	D	1	B	0.19817	0.039	B	0.16289	0.015	T	0.41052	-0.9530	9	0.17369	T	0.5	.	17.5412	0.87848	0.0:1.0:0.0:0.0	.	972	O60244	MED14_HUMAN	N	972	.	ENSP00000323720:D972N	D	-	1	0	MED14	40419524	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.069000	0.61940	0.468000	0.43344	GAT		PASS	0.363	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		4	3	4	3	---	---	---	---
SATL1	340562	broad.mit.edu	37	X	84362697	84362697	+	Silent	SNP	C	C	A	rs368970363		TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chrX:84362697C>A	ENST00000395409.3	-	1	1277	c.717G>T	c.(715-717)ccG>ccT	p.P239P	SATL1_ENST00000332921.5_Silent_p.P239P|SATL1_ENST00000509231.1_Silent_p.P426P			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	239	Gln-rich.			P -> L (in Ref. 2; AAI26402). {ECO:0000305}.			N-acetyltransferase activity (GO:0008080)	p.P426P(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TTGGTTGCCTCGGGACTGGTT	0.562																																						uc011mqx.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(1276-1278)CCG>CCT		spermidine/spermine N1-acetyl transferase-like 1							256.0	189.0	212.0					X																	84362697		2203	4300	6503	SO:0001819	synonymous_variant	340562						N-acetyltransferase activity	g.chrX:84362697C>A	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.717G>T	X.37:g.84362697C>A						SATL1_uc004een.2_Silent_p.P426P	p.P426P	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN			1	1278	-			239	P -> L (in Ref. 2; AAI26402).		Gln-rich.		A0AVK7|E9PB72|Q5H8V9	Silent	SNP	ENST00000395409.3	37	c.1278G>T																																																																																					PASS	0.562	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		4	109	4	109	---	---	---	---
POF1B	79983	broad.mit.edu	37	X	84560850	84560850	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chrX:84560850C>A	ENST00000262753.4	-	13	1529	c.1384G>T	c.(1384-1386)Gag>Tag	p.E462*	POF1B_ENST00000373145.3_Nonsense_Mutation_p.E462*	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	462						tight junction (GO:0005923)		p.E462*(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTTACCATCTCCGTGTAGTGG	0.408																																						uc004eer.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1384-1386)GAG>TAG		premature ovarian failure, 1B							228.0	191.0	203.0					X																	84560850		2203	4300	6503	SO:0001587	stop_gained	79983						actin binding	g.chrX:84560850C>A	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.1384G>T	X.37:g.84560850C>A	ENSP00000262753:p.Glu462*					POF1B_uc004ees.2_Nonsense_Mutation_p.E462*	p.E462*	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN			13	1530	-			462					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Nonsense_Mutation	SNP	ENST00000262753.4	37	c.1384G>T	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	C	37	6.324705	0.97476	.	.	ENSG00000124429	ENST00000262753;ENST00000373145	.	.	.	5.57	5.57	0.84162	.	0.257250	0.45361	D	0.000379	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	17.2284	0.86978	0.0:1.0:0.0:0.0	.	.	.	.	X	462	.	ENSP00000262753:E462X	E	-	1	0	POF1B	84447506	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	3.181000	0.50903	2.335000	0.79485	0.600000	0.82982	GAG		PASS	0.408	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		9	405	9	405	---	---	---	---
CENPI	2491	broad.mit.edu	37	X	100387224	100387224	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chrX:100387224C>A	ENST00000372927.1	+	13	1610	c.1333C>A	c.(1333-1335)Ctc>Atc	p.L445I	CENPI_ENST00000218507.5_Missense_Mutation_p.L445I|CENPI_ENST00000372926.1_Missense_Mutation_p.L445I|CENPI_ENST00000423383.1_Missense_Mutation_p.L445I	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	445					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)		p.L445I(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						GAGCCTTCCTCTCTGGGATGG	0.398																																						uc004egx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1333-1335)CTC>ATC		centromere protein I							174.0	163.0	167.0					X																	100387224		2203	4300	6503	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100387224C>A	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1333C>A	X.37:g.100387224C>A	ENSP00000362018:p.Leu445Ile					CENPI_uc011mrg.1_Missense_Mutation_p.L445I|CENPI_uc004egy.2_Missense_Mutation_p.L445I	p.L445I	NM_006733	NP_006724	Q92674	CENPI_HUMAN			13	1603	+			445					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.1333C>A	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	c	11.83	1.754761	0.31046	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.55	2.41	0.29592	.	0.522625	0.20283	N	0.095417	T	0.48223	0.1488	M	0.69823	2.125	0.30667	N	0.753744	B;B	0.28178	0.202;0.202	B;B	0.30029	0.077;0.11	T	0.47674	-0.9099	9	0.22109	T	0.4	-3.8225	9.2984	0.37831	0.0:0.627:0.0:0.373	.	445;445	B4DZL4;Q92674	.;CENPI_HUMAN	I	445	.	ENSP00000218507:L445I	L	+	1	0	CENPI	100273880	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.897000	0.28390	0.519000	0.28406	0.506000	0.49869	CTC		PASS	0.398	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		8	366	8	366	---	---	---	---
TAF7L	54457	broad.mit.edu	37	X	100547911	100547911	+	Silent	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chrX:100547911G>T	ENST00000372907.3	-	1	134	c.123C>A	c.(121-123)acC>acA	p.T41T	TAF7L_ENST00000356784.1_5'Flank|TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	41					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)		p.T41T(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTTCATAGGTGGTTTCAGACC	0.527																																					Ovarian(104;431 1530 3210 15406 18594)	uc004ehb.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(121-123)ACC>ACA		TATA box binding protein-associated factor, RNA							180.0	177.0	178.0					X																	100547911		2203	4300	6503	SO:0001819	synonymous_variant	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100547911G>T	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.123C>A	X.37:g.100547911G>T						TAF7L_uc004ehc.1_5'Flank	p.T41T	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN			1	135	-			41					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Silent	SNP	ENST00000372907.3	37	c.123C>A	CCDS35347.1																																																																																				PASS	0.527	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			11	490	11	490	---	---	---	---
GPRASP2	114928	broad.mit.edu	37	X	101972177	101972177	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chrX:101972177G>T	ENST00000535209.1	+	4	3211	c.2380G>T	c.(2380-2382)Gga>Tga	p.G794*	GPRASP2_ENST00000332262.5_Nonsense_Mutation_p.G794*|GPRASP2_ENST00000543253.1_Nonsense_Mutation_p.G794*			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	794						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)	p.G794*(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TATAAAAAGTGGAAAGATGTC	0.308																																						uc004ejk.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(2380-2382)GGA>TGA		G protein-coupled receptor associated sorting							108.0	117.0	114.0					X																	101972177		2201	4292	6493	SO:0001587	stop_gained	114928					cytoplasm	protein binding	g.chrX:101972177G>T	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.2380G>T	X.37:g.101972177G>T	ENSP00000437394:p.Gly794*					GPRASP2_uc004ejl.2_Nonsense_Mutation_p.G794*|GPRASP2_uc004ejm.2_Nonsense_Mutation_p.G794*|GPRASP2_uc011mrp.1_Nonsense_Mutation_p.G133*	p.G794*	NM_138437	NP_612446	Q96D09	GASP2_HUMAN			4	3714	+			794					D3DXA0|Q8NAB4	Nonsense_Mutation	SNP	ENST00000535209.1	37	c.2380G>T	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	39	7.506311	0.98325	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	.	.	.	4.04	4.04	0.47022	.	0.000000	0.41194	D	0.000936	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-15.9037	10.6262	0.45508	0.0:0.0:1.0:0.0	.	.	.	.	X	794	.	ENSP00000339057:G794X	G	+	1	0	GPRASP2	101858833	1.000000	0.71417	0.508000	0.27688	0.019000	0.09904	3.680000	0.54641	2.268000	0.75426	0.513000	0.50165	GGA		PASS	0.308	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		8	468	8	468	---	---	---	---
IL1RAPL2	26280	broad.mit.edu	37	X	105011134	105011134	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chrX:105011134G>T	ENST00000372582.1	+	11	2297	c.1541G>T	c.(1540-1542)gGg>gTg	p.G514V	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G514V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	514	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.G514V(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAATTAAAAGGGAAAGTGAAT	0.403																																						uc004elz.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(1540-1542)GGG>GTG		interleukin 1 receptor accessory protein-like 2							97.0	98.0	98.0					X																	105011134		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:105011134G>T	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1541G>T	X.37:g.105011134G>T	ENSP00000361663:p.Gly514Val						p.G514V	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			11	2297	+			514			Cytoplasmic (Potential).|TIR.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1541G>T	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864994	0.51482	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.07327	3.2;3.2;3.2	5.69	2.46	0.29980	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.176035	0.40144	N	0.001172	T	0.09686	0.0238	L	0.60455	1.87	0.80722	D	1	P	0.48294	0.908	B	0.42386	0.386	T	0.10474	-1.0628	10	0.45353	T	0.12	.	7.9752	0.30151	0.1668:0.0:0.6993:0.1339	.	514	Q9NP60	IRPL2_HUMAN	V	514;514;119	ENSP00000361663:G514V;ENSP00000344976:G514V;ENSP00000445576:G119V	ENSP00000344976:G514V	G	+	2	0	IL1RAPL2	104897790	1.000000	0.71417	0.905000	0.35620	0.972000	0.66771	5.425000	0.66470	0.537000	0.28751	0.600000	0.82982	GGG		PASS	0.403	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		10	342	10	342	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105167219	105167219	+	Missense_Mutation	SNP	C	C	T	rs374389910		TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chrX:105167219C>T	ENST00000243300.9	+	18	3023	c.2720C>T	c.(2719-2721)cCg>cTg	p.P907L	NRK_ENST00000428173.2_Missense_Mutation_p.P908L	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	907					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P908L(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TGGTTAACTCCGGCACCTGTC	0.418										HNSCC(51;0.14)																												uc004emd.2																			1	Substitution - Missense(1)		lung(1)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(2719-2721)CCG>CTG		Nik related kinase			LEU/PRO	0,3434		0,0,1432,570	72.0	69.0	70.0		2720	3.6	0.9	X		70	1,6490		0,1,2344,1801	no	missense	NRK	NM_198465.2	98	0,1,3776,2371	TT,TC,CC,C		0.0154,0.0,0.0101	probably-damaging	907/1583	105167219	1,9924	2002	4146	6148	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105167219C>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2720C>T	X.37:g.105167219C>T	ENSP00000434830:p.Pro907Leu	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.P575L	p.P907L	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			18	3023	+			907					Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.2720C>T		.	.	.	.	.	.	.	.	.	.	c	15.83	2.948948	0.53186	0.0	1.54E-4	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.78595	-1.18;-1.19	3.58	3.58	0.41010	.	0.000000	0.38492	N	0.001666	T	0.78904	0.4357	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.80246	-0.1462	10	0.87932	D	0	.	9.7373	0.40395	0.0:1.0:0.0:0.0	.	575;907	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	L	907;908	ENSP00000434830:P907L;ENSP00000438378:P908L	ENSP00000434830:P907L	P	+	2	0	NRK	105053875	0.999000	0.42202	0.904000	0.35570	0.633000	0.38033	2.929000	0.48916	2.045000	0.60652	0.597000	0.82753	CCG		PASS	0.418	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		12	140	12	140	---	---	---	---
COL4A6	1288	broad.mit.edu	37	X	107446160	107446160	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chrX:107446160G>T	ENST00000372216.4	-	13	935	c.835C>A	c.(835-837)Ccg>Acg	p.P279T	COL4A6_ENST00000394872.2_Missense_Mutation_p.P276T|COL4A6_ENST00000545689.1_Missense_Mutation_p.P278T|COL4A6_ENST00000334504.7_Missense_Mutation_p.P278T|COL4A6_ENST00000538570.1_Missense_Mutation_p.P278T	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	279	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.P278T(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGACTTACCGGGAAGCCTGGA	0.463									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(835-837)CCG>ACG		type IV alpha 6 collagen isoform A precursor							170.0	168.0	169.0					X																	107446160		2203	4300	6503	SO:0001583	missense	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107446160G>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.835C>A	X.37:g.107446160G>T	ENSP00000361290:p.Pro279Thr					COL4A6_uc004env.3_Missense_Mutation_p.P278T|COL4A6_uc011msn.1_Missense_Mutation_p.P278T|COL4A6_uc010npk.2_Missense_Mutation_p.P278T	p.P279T	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			13	938	-			279			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.835C>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	8.918	0.960265	0.18507	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.96651	-4.08;-4.08;-3.03;-4.08;-4.08	4.6	3.73	0.42828	.	0.000000	0.36519	N	0.002550	D	0.93488	0.7922	M	0.67700	2.07	0.31006	N	0.719817	P;P;P;P	0.40731	0.59;0.728;0.455;0.59	B;B;B;B	0.36244	0.22;0.22;0.11;0.22	D	0.90793	0.4688	10	0.35671	T	0.21	.	8.3264	0.32160	0.1165:0.0:0.8835:0.0	.	278;278;279;278	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	T	279;278;276;278;278;278	ENSP00000361290:P279T;ENSP00000334733:P278T;ENSP00000378340:P276T;ENSP00000443707:P278T;ENSP00000445236:P278T	ENSP00000334733:P278T	P	-	1	0	COL4A6	107332816	0.997000	0.39634	0.608000	0.28969	0.831000	0.47069	3.284000	0.51708	1.015000	0.39444	0.513000	0.50165	CCG		PASS	0.463	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			11	554	11	554	---	---	---	---
GUCY2F	2986	broad.mit.edu	37	X	108619384	108619384	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chrX:108619384C>A	ENST00000218006.2	-	18	3454	c.3163G>T	c.(3163-3165)Gag>Tag	p.E1055*		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1055			E -> D (in a lung squamous cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.E1055*(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAGGTTTCCTCTGTGCCTTTG	0.408																																						uc004eod.3																			1	Substitution - Nonsense(1)	p.E1055D(1)	lung(1)	lung(4)|breast(3)|central_nervous_system(1)	8						c.(3163-3165)GAG>TAG		guanylate cyclase 2F precursor							124.0	112.0	116.0					X																	108619384		2203	4300	6503	SO:0001587	stop_gained	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108619384C>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3163G>T	X.37:g.108619384C>A	ENSP00000218006:p.Glu1055*					GUCY2F_uc011msq.1_RNA	p.E1055*	NM_001522	NP_001513	P51841	GUC2F_HUMAN			18	3439	-			1055		E -> D (in a lung squamous cell carcinoma sample; somatic mutation).	Cytoplasmic (Potential).		Q9UJF1	Nonsense_Mutation	SNP	ENST00000218006.2	37	c.3163G>T	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	43	9.974978	0.99308	.	.	ENSG00000101890	ENST00000218006	.	.	.	4.49	4.49	0.54785	.	0.115942	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	14.0299	0.64609	0.0:1.0:0.0:0.0	.	.	.	.	X	1055	.	ENSP00000218006:E1055X	E	-	1	0	GUCY2F	108506040	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.064000	0.64338	2.485000	0.83878	0.600000	0.82982	GAG		PASS	0.408	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		7	279	7	279	---	---	---	---
CHRDL1	91851	broad.mit.edu	37	X	109963156	109963156	+	Splice_Site	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chrX:109963156C>A	ENST00000372045.1	-	6	558	c.427G>T	c.(427-429)Gag>Tag	p.E143*	CHRDL1_ENST00000218054.4_Splice_Site_p.E149*|CHRDL1_ENST00000394797.4_Splice_Site_p.E149*|CHRDL1_ENST00000444321.2_Splice_Site_p.E149*|CHRDL1_ENST00000434224.1_Intron|CHRDL1_ENST00000482160.1_Intron|CHRDL1_ENST00000372042.1_Splice_Site_p.E150*			Q9BU40	CRDL1_HUMAN	chordin-like 1	143	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.E149*(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ACGTTTCCCTCCTGCCAAGGA	0.463																																						uc004eou.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(448-450)GAG>TAG		chordin-like 1 isoform 1 precursor							87.0	72.0	77.0					X																	109963156		2203	4300	6503	SO:0001630	splice_region_variant	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109963156C>A	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.427-1G>T	X.37:g.109963156C>A						CHRDL1_uc004eov.2_Nonsense_Mutation_p.E144*|CHRDL1_uc004eow.2_Nonsense_Mutation_p.E149*|CHRDL1_uc010nps.2_Nonsense_Mutation_p.E149*|CHRDL1_uc004eot.2_Intron|CHRDL1_uc011mss.1_Intron|CHRDL1_uc004eox.3_Nonsense_Mutation_p.E143*	p.E150*	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN			6	797	-			143			VWFC 2.		B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Nonsense_Mutation	SNP	ENST00000372045.1	37	c.448G>T		.	.	.	.	.	.	.	.	.	.	C	36	5.663039	0.96745	.	.	ENSG00000101938	ENST00000372045;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000444321	.	.	.	4.91	4.91	0.64330	.	0.127141	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.4188	14.7115	0.69235	0.0:1.0:0.0:0.0	.	.	.	.	X	143;149;149;150;149	.	.	E	-	1	0	CHRDL1	109849812	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.932000	0.63476	2.382000	0.81193	0.462000	0.41574	GAG		PASS	0.463	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234	Nonsense_Mutation	7	166	7	166	---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110494322	110494322	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chrX:110494322C>A	ENST00000324068.1	-	8	1148	c.981G>T	c.(979-981)ttG>ttT	p.L327F	CAPN6_ENST00000541758.1_Missense_Mutation_p.L72F	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	327	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.L327F(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AAAAGTCCTCCAAGCTCATCC	0.443																																						uc004epc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(979-981)TTG>TTT		calpain 6							235.0	217.0	223.0					X																	110494322		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494322C>A	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.981G>T	X.37:g.110494322C>A	ENSP00000317214:p.Leu327Phe					CAPN6_uc011msu.1_Missense_Mutation_p.L72F	p.L327F	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			8	1149	-			327			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.981G>T	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	C	1.356	-0.589947	0.03799	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	D;D	0.84070	-1.8;-1.8	5.95	0.607	0.17564	Peptidase C2, calpain, catalytic domain (3);	0.202401	0.42682	D	0.000663	T	0.34629	0.0904	N	0.00094	-2.165	0.35509	D	0.80048	B	0.11235	0.004	B	0.11329	0.006	T	0.49000	-0.8984	10	0.02654	T	1	.	1.0403	0.01557	0.3244:0.2322:0.2769:0.1665	.	327	Q9Y6Q1	CAN6_HUMAN	F	327;72	ENSP00000317214:L327F;ENSP00000441736:L72F	ENSP00000317214:L327F	L	-	3	2	CAPN6	110380978	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.011000	0.29911	0.250000	0.21479	0.600000	0.82982	TTG		PASS	0.443	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			9	757	9	757	---	---	---	---
LHFPL1	340596	broad.mit.edu	37	X	111903881	111903881	+	Missense_Mutation	SNP	C	C	A	rs147016809		TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chrX:111903881C>A	ENST00000371968.3	-	3	694	c.455G>T	c.(454-456)gGg>gTg	p.G152V	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Intron|Y_RNA_ENST00000363566.1_RNA	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	152						integral component of membrane (GO:0016021)		p.G152V(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GGAGACATTCCCACATGTTTG	0.463																																						uc004epq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(454-456)GGG>GTG		lipoma HMGIC fusion partner-like 1 precursor							319.0	256.0	277.0					X																	111903881		2203	4300	6503	SO:0001583	missense	340596					integral to membrane		g.chrX:111903881C>A	AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.455G>T	X.37:g.111903881C>A	ENSP00000361036:p.Gly152Val					LHFPL1_uc004epp.2_Missense_Mutation_p.G175V|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Intron	p.G152V	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN			3	788	-			152					A8K1N1|Q496M9|Q496N0|Q6UXU2	Missense_Mutation	SNP	ENST00000371968.3	37	c.455G>T	CCDS14562.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495221	0.64186	.	.	ENSG00000182508	ENST00000371968	D	0.88896	-2.44	4.53	4.53	0.55603	.	0.160640	0.56097	D	0.000035	D	0.94218	0.8144	M	0.84082	2.675	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.94961	0.8108	10	0.87932	D	0	-26.856	13.7285	0.62771	0.0:1.0:0.0:0.0	.	152	Q86WI0	LHPL1_HUMAN	V	152	ENSP00000361036:G152V	ENSP00000361036:G152V	G	-	2	0	LHFPL1	111790537	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.363000	0.52321	2.104000	0.64026	0.600000	0.82982	GGG		PASS	0.463	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1	NM_178175		11	648	11	648	---	---	---	---
AMOT	154796	broad.mit.edu	37	X	112021836	112021836	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chrX:112021836C>A	ENST00000524145.1	-	12	3288	c.3214G>T	c.(3214-3216)Gga>Tga	p.G1072*	MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371962.1_Nonsense_Mutation_p.G840*|AMOT_ENST00000304758.1_Nonsense_Mutation_p.G663*|AMOT_ENST00000371959.3_Nonsense_Mutation_p.G1072*			Q4VCS5	AMOT_HUMAN	angiomotin	1072					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.G663*(1)|p.G1072*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GGCTCTTGTCCCAGGATCTGA	0.408																																						uc004epr.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(3214-3216)GGA>TGA		angiomotin isoform 1							237.0	220.0	226.0					X																	112021836		2203	4300	6503	SO:0001587	stop_gained	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112021836C>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.3214G>T	X.37:g.112021836C>A	ENSP00000429013:p.Gly1072*					AMOT_uc004eps.2_Nonsense_Mutation_p.G663*	p.G1072*	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN			11	3214	-			1072					Q504X5|Q9HD27|Q9UPT1	Nonsense_Mutation	SNP	ENST00000524145.1	37	c.3214G>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	38	6.799338	0.97849	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145	.	.	.	5.71	4.85	0.62838	.	0.589593	0.16920	N	0.194134	.	.	.	.	.	.	0.49130	D	0.999758	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-1.6692	13.0008	0.58673	0.0:0.9207:0.0:0.0793	.	.	.	.	X	663;1072;840;1072	.	ENSP00000305557:G663X	G	-	1	0	AMOT	111908492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.137000	0.50562	1.288000	0.44600	0.600000	0.82982	GGA		PASS	0.408	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		11	484	11	484	---	---	---	---
SLC6A14	11254	broad.mit.edu	37	X	115577987	115577987	+	Silent	SNP	A	A	C			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chrX:115577987A>C	ENST00000371900.4	+	7	958	c.870A>C	c.(868-870)tcA>tcC	p.S290S		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	290					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)	p.S290S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AGGGTGCTTCAAAAGGCATTT	0.393																																						uc004eqi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(868-870)TCA>TCC		solute carrier family 6 (amino acid	L-Proline(DB00172)						98.0	96.0	97.0					X																	115577987		2203	4300	6503	SO:0001819	synonymous_variant	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115577987A>C	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.870A>C	X.37:g.115577987A>C						SLC6A14_uc011mtm.1_RNA	p.S290S	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN			7	974	+			290					Q5H942	Silent	SNP	ENST00000371900.4	37	c.870A>C	CCDS14570.1																																																																																				PASS	0.393	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			14	206	14	206	---	---	---	---
CROCCP2	84809	broad.mit.edu	37	1	16946455	16946456	+	lincRNA	INS	-	-	GCTCACGCTGCA			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr1:16946455_16946456insGCTCACGCTGCA	ENST00000412962.1	-	0	1063_1064				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CAGCTCCTCCTGCTCACGCTGC	0.678																																						uc010ocf.1																			0					0								Homo sapiens mRNA for FLJ00313 protein.																																						84809							g.chr1:16946455_16946456insGCTCACGCTGCA	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946455_16946456insGCTCACGCTGCA						CROCCL1_uc009vov.1_RNA|CROCCL1_uc001aze.2_RNA|CROCCL1_uc001azf.2_RNA								3		-								Q8NF65|Q96FR5|Q9BRE8	RNA	INS	ENST00000412962.1	37	c.442_443insTGCAGCGTGAGC																																																																																						0.678	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		6	3	6	3	---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227920724	227920725	+	Frame_Shift_Ins	INS	-	-	T			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr2:227920724_227920725insT	ENST00000396625.3	-	30	2859_2860	c.2652_2653insA	c.(2650-2655)ccaggcfs	p.G885fs	COL4A4_ENST00000329662.7_Frame_Shift_Ins_p.G885fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	885	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTGGGAGGCCTGGGGGACCAT	0.619																																						uc010zlt.1																			0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(2650-2655)CCAGGCfs		alpha 4 type IV collagen precursor																																				SO:0001589	frameshift_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227920724_227920725insT		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2653dupA	2.37:g.227920725_227920725dupT	ENSP00000379866:p.Gly885fs						p.P884fs	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	30	3306_3307	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	884_885			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Frame_Shift_Ins	INS	ENST00000396625.3	37	c.2652_2653insA	CCDS42828.1																																																																																					0.619	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		22	10	22	10	---	---	---	---
MIR570	693155	broad.mit.edu	37	3	195428352	195428352	+	RNA	DEL	C	C	-	rs11337909	byFrequency	TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr3:195428352delC	ENST00000384917.1	+	0	97					NR_030296.1				microRNA 570																		CTGCTGTCTGCCAGTGACTGC	0.557													cc|CC|C|deletion	962	0.192093	0.413	0.1542	5008	,	,		31541	0.006		0.1918	False		,,,				2504	0.1125					uc011btd.1																			0													Homo sapiens cDNA FLJ46488 fis, clone THYMU3026869.																																						0							g.chr3:195428352delC			3	2011-09-12		2008-12-18	ENSG00000207650	ENSG00000207650		"""ncRNAs / Micro RNAs"""	32826	non-coding RNA	RNA, micro		614538		MIRN570			Standard	NR_030296		Approved	hsa-mir-570	uc021xjf.1				3.37:g.195428352delC						uc003fux.1_RNA								1		+									RNA	DEL	ENST00000384917.1	37	c.1531delC																																																																																						0.557	MIR570-201	KNOWN	basic	miRNA	miRNA		NR_030296		13	7	13	7	---	---	---	---
PRIM2	5558	broad.mit.edu	37	6	57513140	57513141	+	3'UTR	INS	-	-	AACA	rs140765588|rs56224260|rs566383684	byFrequency	TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr6:57513140_57513141insAACA	ENST00000389488.2	+	0	2055_2056				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTTGAGGTAACGAGACTTTCAC	0.366																																						uc003pdx.2																			0					0						c.e19+1		DNA primase polypeptide 2																																				SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57513140_57513141insAACA		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*2053->AACA	6.37:g.57513140_57513141insAACA								NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	19	2070	+								Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Splice_Site	INS	ENST00000389488.2	37	c.1983_splice																																																																																						0.366	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		4	2	4	2	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142605706	142605706	+	Frame_Shift_Del	DEL	C	C	-			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr7:142605706delC	ENST00000265310.1	-	15	2512	c.2164delG	c.(2164-2166)gatfs	p.D722fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	722	Involved in Ca(2+)-dependent inactivation. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCCTCTCCATCCCCCTCACTA	0.572																																						uc003wby.1																			0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(2164-2166)GATfs		transient receptor potential cation channel,							110.0	105.0	107.0					7																	142605706		2203	4300	6503	SO:0001589	frameshift_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142605706delC	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.2164delG	7.37:g.142605706delC	ENSP00000265310:p.Asp722fs						p.D722fs	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			15	2428	-	Melanoma(164;0.059)		722			Cytoplasmic (Potential).|Involved in Ca(2+)-dependent inactivation (By similarity).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Frame_Shift_Del	DEL	ENST00000265310.1	37	c.2164delG	CCDS5875.1																																																																																					0.572	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		39	29	39	29	---	---	---	---
ERLIN2	11160	broad.mit.edu	37	8	37593487	37593487	+	5'Flank	DEL	A	A	-	rs112819064		TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr8:37593487delA	ENST00000276461.5	+	0	0				ERLIN2_ENST00000519638.1_5'Flank|RP11-863K10.2_ENST00000523507.1_RNA|ERLIN2_ENST00000335171.6_5'Flank|ERLIN2_ENST00000397228.2_5'Flank|ERLIN2_ENST00000523887.1_5'Flank|ERLIN2_ENST00000518586.1_5'Flank|ERLIN2_ENST00000523107.1_5'Flank|RP11-863K10.7_ENST00000330539.1_Frame_Shift_Del_p.S177fs	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2						cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCAAGGAGAGAAAAAAAAAAA	0.458																																						uc003xkb.1																			0											c.(529-531)TCTfs		SubName: Full=Putative uncharacterized protein ENSP00000328874;																																				SO:0001631	upstream_gene_variant	0							g.chr8:37593487delA	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005		8.37:g.37593487delA	Exception_encountered					ERLIN2_uc003xkc.3_5'Flank|ERLIN2_uc003xkd.2_5'Flank|ERLIN2_uc003xke.3_5'Flank|ERLIN2_uc003xkf.3_5'Flank|ERLIN2_uc003xkg.2_5'Flank	p.S177fs							2	878	-								A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Frame_Shift_Del	DEL	ENST00000276461.5	37	c.529delT	CCDS6095.1																																																																																					0.458	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		4	2	4	2	---	---	---	---
RP11-764K9.1	0	broad.mit.edu	37	9	68412339	68412339	+	lincRNA	DEL	A	A	-			TCGA-18-3412-01A-01D-0983-08	TCGA-18-3412-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	84aca315-8380-4625-887f-a8b3c704c0a9	b5823b9b-ba3a-4d06-aae3-85a682d458f5	g.chr9:68412339delA	ENST00000417843.2	-	0	0				MIR4477B_ENST00000581659.1_RNA																							ACCTTTACAGAGGGCAAAGAA	0.542																																						uc004aew.1																			0													Homo sapiens cDNA, FLJ98602.																																						0							g.chr9:68412339delA																													9.37:g.68412339delA						uc004aex.2_5'Flank								2		+									RNA	DEL	ENST00000417843.2	37	c.501delA																																																																																						0.542	RP11-764K9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000129817.2			4	2	4	2	---	---	---	---
