#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
PEX10	5192	broad.mit.edu	37	1	2340172	2340172	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:2340172C>G	ENST00000447513.2	-	3	387	c.319G>C	c.(319-321)Gac>Cac	p.D107H	PEX10_ENST00000507596.1_Missense_Mutation_p.D107H|PEX10_ENST00000288774.3_Missense_Mutation_p.D107H|PEX10_ENST00000515760.1_5'UTR	NM_002617.3	NP_002608.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	107					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	integral component of peroxisomal membrane (GO:0005779)|intracellular (GO:0005622)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.D107H(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		AGGGCCTTGTCCAGCAGGTAG	0.687																																					GBM(12;9 508 1649 13619)	uc001ajh.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(319-321)GAC>CAC		peroxisome biogenesis factor 10 isoform 2							60.0	62.0	61.0					1																	2340172		2203	4299	6502	SO:0001583	missense	5192				protein import into peroxisome matrix|protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding|zinc ion binding	g.chr1:2340172C>G	AF060502	CCDS41.1, CCDS44045.1	1p36.32	2013-01-09	2008-08-26		ENSG00000157911	ENSG00000157911		"""RING-type (C3HC4) zinc fingers"""	8851	protein-coding gene	gene with protein product		602859	"""peroxisome biogenesis factor 10"""			9683594	Standard	NM_002617		Approved	RNF69	uc001ajg.3	O60683	OTTHUMG00000001637	ENST00000447513.2:c.319G>C	1.37:g.2340172C>G	ENSP00000407922:p.Asp107His					PEX10_uc001ajg.2_Missense_Mutation_p.D107H	p.D107H	NM_002617	NP_002608	O60683	PEX10_HUMAN		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)	3	388	-	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	107					B3KWD8|Q5T095|Q9BW90	Missense_Mutation	SNP	ENST00000447513.2	37	c.319G>C	CCDS44045.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671515	0.67814	.	.	ENSG00000157911	ENST00000288774;ENST00000447513;ENST00000507596	D;D;D	0.82803	-1.65;-1.65;-1.65	4.62	4.62	0.57501	Pex, N-terminal (1);	0.143817	0.64402	D	0.000010	D	0.90642	0.7065	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.957	D	0.91127	0.4934	10	0.48119	T	0.1	-0.0081	16.4363	0.83877	0.0:1.0:0.0:0.0	.	107;107	O60683;O60683-2	PEX10_HUMAN;.	H	107	ENSP00000288774:D107H;ENSP00000407922:D107H;ENSP00000424291:D107H	ENSP00000288774:D107H	D	-	1	0	PEX10	2330032	1.000000	0.71417	0.994000	0.49952	0.350000	0.29205	7.232000	0.78116	2.117000	0.64856	0.462000	0.41574	GAC		PASS	0.687	PEX10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367454.1	NM_153818		7	22	7	22	---	---	---	---
PRAMEF2	65122	broad.mit.edu	37	1	12921252	12921252	+	Missense_Mutation	SNP	C	C	A	rs150748226	byFrequency	TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:12921252C>A	ENST00000240189.2	+	4	1130	c.1043C>A	c.(1042-1044)gCt>gAt	p.A348D		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	348					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.A348D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAAAATTGCTGCCTCTCTC	0.557																																						uc001aum.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1042-1044)GCT>GAT		PRAME family member 2							178.0	176.0	177.0					1																	12921252		2202	4292	6494	SO:0001583	missense	65122							g.chr1:12921252C>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1043C>A	1.37:g.12921252C>A	ENSP00000240189:p.Ala348Asp						p.A348D	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1130	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	348			LRR 2.			Missense_Mutation	SNP	ENST00000240189.2	37	c.1043C>A	CCDS149.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.394523	0.25205	.	.	ENSG00000120952	ENST00000240189	T	0.00976	5.48	0.824	0.824	0.18818	.	0.340203	0.26023	N	0.026814	T	0.02494	0.0076	M	0.86343	2.81	0.09310	N	1	P	0.48407	0.91	P	0.48982	0.597	T	0.27905	-1.0060	10	0.87932	D	0	.	5.0044	0.14280	0.0:1.0:0.0:0.0	.	348	O60811	PRAM2_HUMAN	D	348	ENSP00000240189:A348D	ENSP00000240189:A348D	A	+	2	0	PRAMEF2	12843839	0.000000	0.05858	0.008000	0.14137	0.006000	0.05464	0.145000	0.16157	0.748000	0.32831	0.173000	0.16961	GCT		PASS	0.557	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		45	107	45	107	---	---	---	---
PRAMEF4	400735	broad.mit.edu	37	1	12942116	12942116	+	Missense_Mutation	SNP	C	C	T	rs145911043	byFrequency	TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:12942116C>T	ENST00000235349.5	-	3	504	c.434G>A	c.(433-435)gGa>gAa	p.G145E		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	145					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.G145E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCTGCCGTCCTCTCATCCT	0.502																																						uc001aun.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(433-435)GGA>GAA		PRAME family member 4		C	GLU/GLY	0,2870		0,0,1435	55.0	67.0	63.0		434	-2.2	0.0	1	dbSNP_134	63	3,5305		1,1,2652	no	missense	PRAMEF4	NM_001009611.2	98	1,1,4087	TT,TC,CC		0.0565,0.0,0.0367	benign	145/479	12942116	3,8175	1435	2654	4089	SO:0001583	missense	400735							g.chr1:12942116C>T		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.434G>A	1.37:g.12942116C>T	ENSP00000235349:p.Gly145Glu						p.G145E	NM_001009611	NP_001009611	O60810	PRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	505	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	145					Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	c.434G>A	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.455043	0.00173	0.0	5.65E-4	ENSG00000243073	ENST00000235349	T	0.04551	3.6	1.14	-2.16	0.07080	.	3.942340	0.00939	N	0.002815	T	0.01870	0.0059	N	0.02247	-0.625	0.09310	N	1	B	0.23490	0.086	B	0.28709	0.093	T	0.34950	-0.9808	10	0.02654	T	1	.	3.0046	0.06024	0.0:0.3363:0.4058:0.2579	.	145	O60810	PRAM4_HUMAN	E	145	ENSP00000235349:G145E	ENSP00000235349:G145E	G	-	2	0	PRAMEF4	12864703	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.552000	0.02176	-0.602000	0.05775	0.400000	0.26472	GGA		PASS	0.502	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		61	205	61	205	---	---	---	---
DNAJC16	23341	broad.mit.edu	37	1	15894409	15894409	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:15894409G>T	ENST00000375847.3	+	15	2250	c.2086G>T	c.(2086-2088)Ggt>Tgt	p.G696C	DNAJC16_ENST00000483270.1_3'UTR|RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000375849.1_Intron	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	696					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.G696C(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TGACTACACTGGTTATGTACT	0.443																																						uc001aws.2																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|lung(1)|kidney(1)	3						c.(2086-2088)GGT>TGT		DnaJ (Hsp40) homolog, subfamily C, member 16							148.0	134.0	139.0					1																	15894409		2203	4300	6503	SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15894409G>T	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.2086G>T	1.37:g.15894409G>T	ENSP00000365007:p.Gly696Cys					DNAJC16_uc001awt.2_Missense_Mutation_p.G384C|DNAJC16_uc001awu.2_RNA	p.G696C	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	15	2206	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	696			Extracellular (Potential).		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	c.2086G>T	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818033	0.90790	.	.	ENSG00000116138	ENST00000375847	D	0.94457	-3.43	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.97173	0.9076	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97352	0.9964	10	0.87932	D	0	-20.3895	18.8118	0.92061	0.0:0.0:1.0:0.0	.	696	Q9Y2G8	DJC16_HUMAN	C	696	ENSP00000365007:G696C	ENSP00000365007:G696C	G	+	1	0	DNAJC16	15766996	1.000000	0.71417	0.511000	0.27724	0.991000	0.79684	9.238000	0.95380	2.790000	0.95986	0.655000	0.94253	GGT		PASS	0.443	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		8	175	8	175	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19403254	19403254	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:19403254G>A	ENST00000375254.3	-	105	15494	c.15467C>T	c.(15466-15468)tCa>tTa	p.S5156L	RP5-1126H10.2_ENST00000606379.1_RNA|UBR4_ENST00000543981.1_Missense_Mutation_p.S820L|UBR4_ENST00000429347.2_Missense_Mutation_p.S679L|UBR4_ENST00000375217.2_Missense_Mutation_p.S5149L|UBR4_ENST00000375225.3_Missense_Mutation_p.S231L|UBR4_ENST00000375224.1_Missense_Mutation_p.S863L|UBR4_ENST00000375267.2_Missense_Mutation_p.S5177L|UBR4_ENST00000375226.2_Missense_Mutation_p.S5132L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5156					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S5156L(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GAGGAACTCTGAGAAGGTCTC	0.527																																						uc001bbi.2																			1	Substitution - Missense(1)		lung(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(15466-15468)TCA>TTA		retinoblastoma-associated factor 600							220.0	206.0	210.0					1																	19403254		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19403254G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.15467C>T	1.37:g.19403254G>A	ENSP00000364403:p.Ser5156Leu					UBR4_uc001bbe.1_5'Flank|UBR4_uc001bbf.2_Missense_Mutation_p.S51L|UBR4_uc010ocv.1_Missense_Mutation_p.S679L|UBR4_uc009vph.2_Missense_Mutation_p.S811L|UBR4_uc010ocw.1_Missense_Mutation_p.S820L|UBR4_uc001bbg.2_Missense_Mutation_p.S867L|UBR4_uc001bbh.2_Missense_Mutation_p.S865L	p.S5156L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	105	15471	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	5156					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.15467C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216349	0.79352	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375225;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.91	5.0	0.66597	.	0.158137	0.44483	N	0.000448	T	0.23014	0.0556	L	0.34521	1.04	0.58432	D	0.999997	B;B;B;B	0.31413	0.157;0.322;0.0;0.13	B;B;B;B	0.22880	0.042;0.042;0.002;0.025	T	0.03060	-1.1077	10	0.40728	T	0.16	.	13.8178	0.63303	0.0736:0.0:0.9264:0.0	.	820;679;5156;5132	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	L	5156;5177;5149;5132;231;863;679;820	ENSP00000364403:S5156L;ENSP00000364416:S5177L;ENSP00000364365:S5149L;ENSP00000364374:S5132L;ENSP00000364373:S231L;ENSP00000364372:S863L;ENSP00000394173:S679L;ENSP00000444070:S820L	ENSP00000364365:S5149L	S	-	2	0	UBR4	19275841	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	7.650000	0.83521	1.500000	0.48636	0.655000	0.94253	TCA		PASS	0.527	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		98	237	98	237	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19492186	19492186	+	Missense_Mutation	SNP	T	T	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:19492186T>A	ENST00000375254.3	-	30	4202	c.4175A>T	c.(4174-4176)cAg>cTg	p.Q1392L	UBR4_ENST00000375217.2_Missense_Mutation_p.Q1392L|UBR4_ENST00000375267.2_Missense_Mutation_p.Q1392L|UBR4_ENST00000375226.2_Missense_Mutation_p.Q1392L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1392					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q1392L(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTTACGAGCCTGGCTACTTTC	0.433																																						uc001bbi.2																			1	Substitution - Missense(1)		lung(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(4174-4176)CAG>CTG		retinoblastoma-associated factor 600							91.0	89.0	90.0					1																	19492186		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19492186T>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4175A>T	1.37:g.19492186T>A	ENSP00000364403:p.Gln1392Leu					UBR4_uc001bbm.1_Missense_Mutation_p.Q603L	p.Q1392L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	30	4179	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1392					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.4175A>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.558627	0.45590	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.09	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.58921	0.2156	N	0.08118	0	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	T	0.60546	-0.7242	10	0.26408	T	0.33	.	16.0039	0.80344	0.0:0.0:0.0:1.0	.	1392	Q5T4S7	UBR4_HUMAN	L	1392;1392;1392;1392;102;608	ENSP00000364403:Q1392L;ENSP00000364416:Q1392L;ENSP00000364365:Q1392L;ENSP00000364374:Q1392L;ENSP00000404897:Q102L	ENSP00000364365:Q1392L	Q	-	2	0	UBR4	19364773	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.606000	0.82863	2.317000	0.78254	0.460000	0.39030	CAG		PASS	0.433	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		15	46	15	46	---	---	---	---
MATN1	4146	broad.mit.edu	37	1	31188829	31188829	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:31188829C>A	ENST00000373765.4	-	5	1169	c.1134G>T	c.(1132-1134)aaG>aaT	p.K378N	MATN1_ENST00000477320.1_5'Flank|MATN1-AS1_ENST00000414763.1_RNA|MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000454613.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	378	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.K378N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		CAATGCCCACCTTCTGGGCCC	0.562																																						uc001brz.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1132-1134)AAG>AAT		matrilin 1, cartilage matrix protein precursor							87.0	90.0	89.0					1																	31188829		2203	4300	6503	SO:0001583	missense	4146				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:31188829C>A	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.1134G>T	1.37:g.31188829C>A	ENSP00000362870:p.Lys378Asn					uc001bsb.1_5'Flank|MATN1_uc001bsa.1_Missense_Mutation_p.K296N	p.K378N	NM_002379	NP_002370	P21941	MATN1_HUMAN		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)	5	1168	-		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	378			VWFA 2.		B2R7E3|Q5TBB9	Missense_Mutation	SNP	ENST00000373765.4	37	c.1134G>T	CCDS336.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476600	0.63737	.	.	ENSG00000162510	ENST00000373765	D	0.86366	-2.11	5.53	4.61	0.57282	von Willebrand factor, type A (3);	.	.	.	.	D	0.90981	0.7164	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90226	0.4275	9	0.51188	T	0.08	-33.1787	9.1943	0.37217	0.1469:0.7807:0.0:0.0725	.	362;378	A3KMG0;P21941	.;MATN1_HUMAN	N	378	ENSP00000362870:K378N	ENSP00000362870:K378N	K	-	3	2	MATN1	30961416	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.246000	0.32803	1.316000	0.45131	-0.188000	0.12872	AAG		PASS	0.562	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	NM_002379		22	48	22	48	---	---	---	---
ZSCAN20	7579	broad.mit.edu	37	1	33960553	33960553	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:33960553C>A	ENST00000361328.3	+	8	2762	c.2609C>A	c.(2608-2610)tCa>tAa	p.S870*		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	870					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S870*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGCACAAACTCAGGGGAGAAA	0.438																																						uc001bxj.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2608-2610)TCA>TAA		zinc finger protein 31							147.0	147.0	147.0					1																	33960553		1944	4159	6103	SO:0001587	stop_gained	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960553C>A	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2609C>A	1.37:g.33960553C>A	ENSP00000355053:p.Ser870*					ZSCAN20_uc009vui.2_Nonsense_Mutation_p.S869*	p.S870*	NM_145238	NP_660281	P17040	ZSC20_HUMAN			8	2776	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	870					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Nonsense_Mutation	SNP	ENST00000361328.3	37	c.2609C>A	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	39	7.785225	0.98489	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.8	4.89	0.63831	.	0.600076	0.14986	N	0.286939	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-0.5014	12.5838	0.56406	0.0:0.9195:0.0:0.0805	.	.	.	.	X	870;804;804	.	ENSP00000324450:S870X	S	+	2	0	ZSCAN20	33733140	0.977000	0.34250	0.807000	0.32361	0.924000	0.55760	3.325000	0.52030	1.447000	0.47661	0.561000	0.74099	TCA		PASS	0.438	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		8	265	8	265	---	---	---	---
AGO3	192669	broad.mit.edu	37	1	36506013	36506013	+	Silent	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:36506013C>A	ENST00000373191.4	+	16	2492	c.2143C>A	c.(2143-2145)Cga>Aga	p.R715R	AGO3_ENST00000246314.6_Silent_p.R481R	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	715	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)	p.R715R(1)									ACATCACACTCGATTATTTTG	0.368																																						uc001bzp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2143-2145)CGA>AGA		eukaryotic translation initiation factor 2C, 3							136.0	127.0	130.0					1																	36506013		2202	4300	6502	SO:0001819	synonymous_variant	192669				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36506013C>A	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.2143C>A	1.37:g.36506013C>A						EIF2C3_uc001bzq.2_Silent_p.R481R	p.R715R	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN			16	2399	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	715			Piwi.		B1ALI0|Q5TA55|Q9H1U6	Silent	SNP	ENST00000373191.4	37	c.2143C>A	CCDS399.1																																																																																				PASS	0.368	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		4	68	4	68	---	---	---	---
INPP5B	3633	broad.mit.edu	37	1	38338764	38338764	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:38338764G>C	ENST00000373026.1	-	18	2265	c.2265C>G	c.(2263-2265)gaC>gaG	p.D755E	INPP5B_ENST00000373024.3_Missense_Mutation_p.D675E|INPP5B_ENST00000373023.2_Missense_Mutation_p.D755E|INPP5B_ENST00000373027.1_Missense_Mutation_p.D511E			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	755	ASH. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)	p.D755E(1)		breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCTCAATTTTGTCTTCACCCG	0.418																																						uc001ccg.1																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)	1						c.(2023-2025)GAC>GAG		inositol polyphosphate-5-phosphatase, 75kDa							198.0	184.0	188.0					1																	38338764		1873	4118	5991	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38338764G>C	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.2265C>G	1.37:g.38338764G>C	ENSP00000362117:p.Asp755Glu					INPP5B_uc009vvk.1_Missense_Mutation_p.D616E|INPP5B_uc001ccf.1_Missense_Mutation_p.D511E	p.D675E	NM_005540	NP_005531	P32019	I5P2_HUMAN			19	2119	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	755					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.2025C>G		.	.	.	.	.	.	.	.	.	.	G	10.75	1.439025	0.25900	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.59	4.68	0.58851	.	0.091390	0.64402	D	0.000001	T	0.12305	0.0299	N	0.25201	0.72	0.80722	D	1	B;B	0.17667	0.023;0.004	B;B	0.12156	0.007;0.007	T	0.12708	-1.0537	10	0.32370	T	0.25	.	5.3579	0.16071	0.1565:0.0:0.5748:0.2686	.	755;675	P32019;P32019-2	I5P2_HUMAN;.	E	511;755;755;755;675	ENSP00000362118:D511E;ENSP00000362114:D755E;ENSP00000362117:D755E;ENSP00000362115:D675E	ENSP00000362114:D755E	D	-	3	2	INPP5B	38111351	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.656000	0.24948	1.355000	0.45865	0.643000	0.83706	GAC		PASS	0.418	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		40	61	40	61	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	41976621	41976621	+	Missense_Mutation	SNP	C	C	T	rs147749727	byFrequency	TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:41976621C>T	ENST00000372583.1	-	9	7607	c.6722G>A	c.(6721-6723)cGa>cAa	p.R2241Q	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R2240Q|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R2240Q|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R2241Q	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2241					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R2241Q(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCAGCGGCCTCGCTCCTGGGC	0.692													C|||	11	0.00219649	0.0038	0.0	5008	,	,		12655	0.0		0.002	False		,,,				2504	0.0041					uc001cgz.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(6721-6723)CGA>CAA		human immunodeficiency virus type I enhancer		C	GLN/ARG,GLN/ARG	1,4405		0,1,2202	32.0	37.0	36.0		6719,6722	3.3	1.0	1	dbSNP_134	36	19,8581	13.3+/-46.6	0,19,4281	yes	missense,missense	HIVEP3	NM_001127714.2,NM_024503.4	43,43	0,20,6483	TT,TC,CC		0.2209,0.0227,0.1538	probably-damaging,probably-damaging	2240/2406,2241/2407	41976621	20,12986	2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41976621C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6722G>A	1.37:g.41976621C>T	ENSP00000361664:p.Arg2241Gln					HIVEP3_uc001cha.3_Missense_Mutation_p.R2240Q|HIVEP3_uc001cgy.2_RNA	p.R2241Q	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			9	7935	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	2241					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.6722G>A	CCDS463.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	21.7	4.182785	0.78677	2.27E-4	0.002209	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06449	3.31;3.3;3.3;3.31	5.16	3.3	0.37823	.	0.177347	0.26696	N	0.022964	T	0.04998	0.0134	L	0.27053	0.805	0.28222	N	0.926481	B;B	0.15141	0.012;0.007	B;B	0.10450	0.005;0.002	T	0.23691	-1.0181	10	0.54805	T	0.06	-1.3672	7.7822	0.29072	0.0:0.812:0.0:0.188	.	2240;2241	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	Q	2240;2241;2241;2240	ENSP00000361665:R2240Q;ENSP00000361664:R2241Q;ENSP00000247584:R2241Q;ENSP00000410828:R2240Q	ENSP00000247584:R2241Q	R	-	2	0	HIVEP3	41749208	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.804000	0.27098	0.758000	0.33059	0.561000	0.74099	CGA		PASS	0.692	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		15	14	15	14	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42045798	42045798	+	Silent	SNP	C	C	T	rs573083888		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:42045798C>T	ENST00000372583.1	-	4	5556	c.4671G>A	c.(4669-4671)aaG>aaA	p.K1557K	HIVEP3_ENST00000429157.2_Silent_p.K1557K|HIVEP3_ENST00000372584.1_Silent_p.K1557K|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Silent_p.K1557K	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1557					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K1557K(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CAGGTTGTTCCTTGGAATCTT	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		21415	0.0		0.001	False		,,,				2504	0.0					uc001cgz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(4669-4671)AAG>AAA		human immunodeficiency virus type I enhancer							108.0	109.0	109.0					1																	42045798		2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42045798C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4671G>A	1.37:g.42045798C>T						HIVEP3_uc001cha.3_Silent_p.K1557K|HIVEP3_uc001cgy.2_RNA	p.K1557K	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	5884	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1557					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.4671G>A	CCDS463.1																																																																																				PASS	0.542	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		23	54	23	54	---	---	---	---
HYI	81888	broad.mit.edu	37	1	43914311	43914311	+	IGR	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:43914311G>T	ENST00000372425.4	-	0	1115				SZT2_ENST00000562955.1_Missense_Mutation_p.W3276L|SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Missense_Mutation_p.W2434L			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)								hydroxypyruvate isomerase activity (GO:0008903)	p.W2434L(2)|p.W3276L(1)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACGGTCTCCTGGTACCAGAGC	0.572																																						uc001cjk.1																			3	Substitution - Missense(3)		lung(3)		0						c.(7300-7302)TGG>TTG		hypothetical protein LOC23334							159.0	164.0	162.0					1																	43914311		2203	4300	6503	SO:0001628	intergenic_variant	23334					peroxisome		g.chr1:43914311G>T		CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"""hydroxypyruvate isomerase homolog (E. coli)"""			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502		1.37:g.43914311G>T						KIAA0467_uc001cjl.1_Missense_Mutation_p.W422L	p.W2434L	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			55	7763	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	3333					D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Missense_Mutation	SNP	ENST00000372425.4	37	c.7301G>T	CCDS53309.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776699	0.70107	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.77485	0.4137	L	0.54323	1.7	0.43107	D	0.994805	B;D	0.89917	0.257;1.0	B;D	0.87578	0.18;0.998	T	0.78507	-0.2177	9	0.87932	D	0	.	19.8824	0.96903	0.0:0.0:1.0:0.0	.	3333;3276	Q5T011;Q5T011-5	SZT2_HUMAN;.	L	2434	.	ENSP00000361519:W2434L	W	+	2	0	SZT2	43686898	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.667000	0.98616	2.696000	0.92011	0.591000	0.81541	TGG		PASS	0.572	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031207		10	206	10	206	---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44056897	44056897	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:44056897G>A	ENST00000359947.4	+	9	1544	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	PTPRF_ENST00000438120.1_Missense_Mutation_p.E402K|PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000372413.3_Missense_Mutation_p.E402K|PTPRF_ENST00000372414.3_Missense_Mutation_p.E402K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	402	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E392K(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCGCCCAGCGAGGCAGTGCG	0.697																																						uc001cjr.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(1204-1206)GAG>AAG		protein tyrosine phosphatase, receptor type, F							14.0	15.0	15.0					1																	44056897		2200	4287	6487	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44056897G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1204G>A	1.37:g.44056897G>A	ENSP00000353030:p.Glu402Lys					PTPRF_uc001cjs.2_Missense_Mutation_p.E402K|PTPRF_uc001cju.2_5'UTR|PTPRF_uc009vwt.2_5'UTR|PTPRF_uc001cjv.2_5'UTR	p.E402K	NM_002840	NP_002831	P10586	PTPRF_HUMAN			9	1544	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	402			Extracellular (Potential).|Fibronectin type-III 1.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.1204G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.53|12.53	1.966504|1.966504	0.34659|0.34659	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413|ENST00000412568	T;T;T;T|.	0.55760|.	0.5;0.5;0.5;0.5|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Fibronectin, type III (2);Immunoglobulin-like fold (1);|.	0.230133|.	0.22305|.	N|.	0.061817|.	T|T	0.70727|0.70727	0.3257|0.3257	L|L	0.49256|0.49256	1.55|1.55	0.80722|0.80722	D|D	1|1	D;P|.	0.61080|.	0.989;0.731|.	P;B|.	0.46320|.	0.512;0.124|.	T|T	0.65788|0.65788	-0.6083|-0.6083	10|5	0.19590|.	T|.	0.45|.	.|.	19.7371|19.7371	0.96210|0.96210	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	402;402|.	P10586-2;P10586|.	.;PTPRF_HUMAN|.	K|Q	402|69	ENSP00000353030:E402K;ENSP00000398822:E402K;ENSP00000361491:E402K;ENSP00000361490:E402K|.	ENSP00000353030:E402K|.	E|R	+|+	1|2	0|0	PTPRF|PTPRF	43829484|43829484	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.924000|0.924000	0.55760|0.55760	5.613000|5.613000	0.67688|0.67688	2.758000|2.758000	0.94735|0.94735	0.563000|0.563000	0.77884|0.77884	GAG|CGA		PASS	0.697	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			8	7	8	7	---	---	---	---
TESK2	10420	broad.mit.edu	37	1	45821049	45821049	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:45821049G>C	ENST00000372086.3	-	5	866	c.466C>G	c.(466-468)Ctg>Gtg	p.L156V	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.L156V|TESK2_ENST00000538496.1_Missense_Mutation_p.L73V|TESK2_ENST00000341771.6_Missense_Mutation_p.L156V	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	156	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|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)|protein tyrosine kinase activity (GO:0004713)	p.L140V(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TCATAGGCCAGTTTTACCCTC	0.468																																						uc001cns.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(466-468)CTG>GTG		testis-specific protein kinase 2							135.0	130.0	132.0					1																	45821049		1929	4130	6059	SO:0001583	missense	10420				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:45821049G>C	AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.466C>G	1.37:g.45821049G>C	ENSP00000361158:p.Leu156Val					TESK2_uc009vxr.1_Missense_Mutation_p.L156V|TESK2_uc010olo.1_Missense_Mutation_p.L73V|TESK2_uc009vxs.1_5'UTR	p.L156V	NM_007170	NP_009101	Q96S53	TESK2_HUMAN			5	869	-	Acute lymphoblastic leukemia(166;0.155)		156			Protein kinase.		Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	ENST00000372086.3	37	c.466C>G	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023452	0.75390	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496	D;T;D;T	0.89196	-2.48;0.02;-2.48;0.02	5.63	3.76	0.43208	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000134	D	0.89336	0.6686	N	0.26092	0.79	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.73380	0.966;0.98	D	0.88518	0.3094	10	0.56958	D	0.05	-9.373	10.9036	0.47067	0.2087:0.0:0.7913:0.0	.	156;156	Q96S53-3;Q96S53	.;TESK2_HUMAN	V	156;156;140;156;73	ENSP00000361156:L156V;ENSP00000361158:L156V;ENSP00000343940:L156V;ENSP00000441746:L73V	ENSP00000343940:L156V	L	-	1	2	TESK2	45593636	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.627000	0.46469	0.733000	0.32492	0.561000	0.74099	CTG		PASS	0.468	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170		8	26	8	26	---	---	---	---
TTC39A	22996	broad.mit.edu	37	1	51753897	51753897	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:51753897C>A	ENST00000447632.2	-	18	1822	c.1774G>T	c.(1774-1776)Gcc>Tcc	p.A592S	TTC39A_ENST00000262675.7_Missense_Mutation_p.A529S|TTC39A_ENST00000413473.2_Missense_Mutation_p.A560S|TTC39A_ENST00000371750.5_Missense_Mutation_p.A557S|TTC39A_ENST00000530004.1_Missense_Mutation_p.A200S|TTC39A_ENST00000451380.1_Missense_Mutation_p.A556S|TTC39A_ENST00000534098.1_5'UTR			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	592								p.0?(2)|p.A592S(1)|p.A529S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TGGAGTGTGGCTGCCTGGATT	0.512																																						uc001csl.2																			4	Substitution - Missense(2)|Whole gene deletion(2)		lung(2)|thyroid(1)|central_nervous_system(1)	skin(1)	1						c.(1774-1776)GCC>TCC		tetratricopeptide repeat domain 39A isoform 2							204.0	213.0	210.0					1																	51753897		2093	4227	6320	SO:0001583	missense	22996						binding	g.chr1:51753897C>A	AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.1774G>T	1.37:g.51753897C>A	ENSP00000393952:p.Ala592Ser					TTC39A_uc001csk.2_Missense_Mutation_p.A557S|TTC39A_uc010ond.1_Missense_Mutation_p.A529S|TTC39A_uc010one.1_Missense_Mutation_p.A556S|TTC39A_uc010onf.1_Missense_Mutation_p.A560S|TTC39A_uc001csj.2_Missense_Mutation_p.A193S	p.A592S	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN			18	1879	-			592					B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	ENST00000447632.2	37	c.1774G>T		.	.	.	.	.	.	.	.	.	.	C	33	5.204641	0.95033	.	.	ENSG00000085831	ENST00000530004;ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750	T;T;T;T;T	0.59906	0.27;0.23;0.27;0.23;0.24	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.80628	0.4659	M	0.87456	2.885	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.87578	0.998;0.996;0.987;0.993;0.994	T	0.82190	-0.0580	10	0.59425	D	0.04	-20.0115	19.6522	0.95822	0.0:1.0:0.0:0.0	.	560;556;529;592;557	Q5SRH9-4;E7EQY9;D3DQ30;Q5SRH9;G3XAF8	.;.;.;TT39A_HUMAN;.	S	200;592;560;529;556;557	ENSP00000393952:A592S;ENSP00000406144:A560S;ENSP00000262675:A529S;ENSP00000397207:A556S;ENSP00000360815:A557S	ENSP00000262675:A529S	A	-	1	0	TTC39A	51526485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.095000	0.76952	2.826000	0.97356	0.655000	0.94253	GCC		PASS	0.512	TTC39A-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000022434.2			5	86	5	86	---	---	---	---
SLC1A7	6512	broad.mit.edu	37	1	53554564	53554564	+	Silent	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:53554564C>A	ENST00000371494.4	-	10	1576	c.1449G>T	c.(1447-1449)cgG>cgT	p.R483R	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	483					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.R483R(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		TGCCTGTGTCCCGGGCAAAAT	0.617																																					NSCLC(128;80 1811 21245 38490 51715)	uc001cuy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1447-1449)CGG>CGT		solute carrier family 1 (glutamate transporter),	L-Glutamic Acid(DB00142)						83.0	69.0	74.0					1																	53554564		2203	4300	6503	SO:0001819	synonymous_variant	6512					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr1:53554564C>A	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.1449G>T	1.37:g.53554564C>A						SLC1A7_uc001cux.2_Silent_p.R136R	p.R483R	NM_006671	NP_006662	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	10	1617	-			483					Q5VVZ0|Q969Z8|Q9BW45	Silent	SNP	ENST00000371494.4	37	c.1449G>T	CCDS574.1																																																																																				PASS	0.617	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		17	38	17	38	---	---	---	---
FGGY	55277	broad.mit.edu	37	1	59844452	59844452	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:59844452G>A	ENST00000303721.7	+	5	671	c.497G>A	c.(496-498)gGa>gAa	p.G166E	FGGY_ENST00000371212.1_Missense_Mutation_p.G78E|FGGY_ENST00000371218.4_Missense_Mutation_p.G166E|FGGY_ENST00000474476.1_3'UTR	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	166					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.G166E(1)|p.G54E(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)					GATAAGGCGGGACATTTCTTT	0.393																																						uc001czi.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(496-498)GGA>GAA		FGGY carbohydrate kinase domain containing							117.0	115.0	116.0					1																	59844452		2203	4299	6502	SO:0001583	missense	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59844452G>A		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.497G>A	1.37:g.59844452G>A	ENSP00000305922:p.Gly166Glu					FGGY_uc001czg.2_Missense_Mutation_p.G54E|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.G166E|FGGY_uc001czj.3_Missense_Mutation_p.G166E|FGGY_uc001czk.3_Missense_Mutation_p.G54E|FGGY_uc001czl.3_Missense_Mutation_p.G78E	p.G166E	NM_018291	NP_060761	Q96C11	FGGY_HUMAN			5	709	+	all_cancers(7;7.36e-05)		166					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	ENST00000303721.7	37	c.497G>A	CCDS611.2	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804499	0.70682	.	.	ENSG00000172456	ENST00000413489;ENST00000371218;ENST00000303721;ENST00000371212	T;T;T;T	0.56444	1.02;1.02;1.02;0.46	5.54	5.54	0.83059	Carbohydrate kinase, FGGY, N-terminal (1);	0.109459	0.64402	D	0.000008	T	0.65943	0.2740	L	0.55990	1.75	0.80722	D	1	D;P;D;P	0.57899	0.965;0.791;0.981;0.935	P;B;P;P	0.60682	0.878;0.296;0.829;0.806	T	0.61642	-0.7021	9	.	.	.	-5.1999	17.8435	0.88722	0.0:0.0:1.0:0.0	.	166;78;166;166	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	E	166;166;166;78	ENSP00000406607:G166E;ENSP00000360262:G166E;ENSP00000305922:G166E;ENSP00000360256:G78E	.	G	+	2	0	FGGY	59617040	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.889000	0.63171	2.880000	0.98712	0.650000	0.86243	GGA		PASS	0.393	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		12	14	12	14	---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91778938	91778938	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:91778938G>A	ENST00000370425.3	-	30	3457	c.3359C>T	c.(3358-3360)tCa>tTa	p.S1120L	HFM1_ENST00000370424.3_Missense_Mutation_p.S799L|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.S352L	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1120					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.S1120L(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AGATATGTCTGAATGTTTAGA	0.328																																						uc001doa.3																			1	Substitution - Missense(1)		lung(1)		0						c.(3358-3360)TCA>TTA		HFM1 protein							123.0	122.0	123.0					1																	91778938		2202	4297	6499	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91778938G>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3359C>T	1.37:g.91778938G>A	ENSP00000359454:p.Ser1120Leu					HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.S799L|HFM1_uc001dob.3_Missense_Mutation_p.S308L|HFM1_uc010osv.1_Missense_Mutation_p.S804L	p.S1120L	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	30	3459	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1120					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.3359C>T	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.296|6.296	0.422651|0.422651	0.11928|0.11928	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000430465|ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	.|T;T;T	.|0.64803	.|0.27;0.56;-0.12	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.554102	.|0.16443	.|N	.|0.214235	.|T	.|0.39279	.|0.1072	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.33318	.|0.408;0.19;0.363	.|B;B;B	.|0.34489	.|0.184;0.055;0.075	.|T	.|0.37957	.|-0.9683	.|10	.|0.45353	.|T	.|0.12	.|.	4.636|4.636	0.12525|0.12525	0.0819:0.152:0.6084:0.1577|0.0819:0.152:0.6084:0.1577	.|.	.|799;331;1120	.|A6NGI5;B1B0B5;A2PYH4	.|.;.;HFM1_HUMAN	X|L	332|1120;352;799;804	.|ENSP00000359454:S1120L;ENSP00000294696:S352L;ENSP00000359453:S799L	.|ENSP00000294696:S352L	Q|S	-|-	1|2	0|0	HFM1|HFM1	91551526|91551526	0.000000|0.000000	0.05858|0.05858	0.027000|0.027000	0.17364|0.17364	0.085000|0.085000	0.17905|0.17905	0.775000|0.775000	0.26689|0.26689	2.479000|2.479000	0.83701|0.83701	0.591000|0.591000	0.81541|0.81541	CAG|TCA		PASS	0.328	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		7	19	7	19	---	---	---	---
CNN3	1266	broad.mit.edu	37	1	95368960	95368960	+	Splice_Site	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:95368960C>A	ENST00000370206.4	-	2	561	c.178G>T	c.(178-180)Gaa>Taa	p.E60*	CNN3_ENST00000394202.4_Splice_Site_p.E60*|CNN3_ENST00000538964.1_Splice_Site_p.E60*|CNN3_ENST00000487539.1_5'Flank|CNN3_ENST00000545882.1_Splice_Site_p.E19*	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	60	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)		p.E60*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		GTAACTCACTCGCAGAGGATG	0.507																																						uc010otw.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(178-180)GAA>TAA		calponin 3							95.0	92.0	93.0					1																	95368960		2203	4300	6503	SO:0001630	splice_region_variant	1266				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding	g.chr1:95368960C>A	BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.179+1G>T	1.37:g.95368960C>A						CNN3_uc010otv.1_Nonsense_Mutation_p.E19*|CNN3_uc001dqz.3_Nonsense_Mutation_p.E60*|CNN3_uc010otx.1_Nonsense_Mutation_p.E60*	p.E60*	NM_001839	NP_001830	Q15417	CNN3_HUMAN		all cancers(265;0.0325)|Epithelial(280;0.0861)	3	260	-		all_lung(203;0.00206)|Lung NSC(277;0.00948)	60			CH.		B4DFK6|B4DP09|F8WA86|Q6FHA7	Nonsense_Mutation	SNP	ENST00000370206.4	37	c.178G>T	CCDS30775.1	.	.	.	.	.	.	.	.	.	.	C	40	8.074700	0.98640	.	.	ENSG00000117519	ENST00000370206;ENST00000538964;ENST00000394202;ENST00000545882;ENST00000415017	.	.	.	5.85	5.85	0.93711	.	0.092585	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-26.8153	13.3704	0.60709	0.0:0.9284:0.0:0.0716	.	.	.	.	X	60;60;60;19;19	.	ENSP00000359225:E60X	E	-	1	0	CNN3	95141548	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.066000	0.71185	2.753000	0.94483	0.655000	0.94253	GAA		PASS	0.507	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2	NM_001839	Nonsense_Mutation	5	56	5	56	---	---	---	---
FNDC7	163479	broad.mit.edu	37	1	109271508	109271508	+	Splice_Site	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:109271508G>T	ENST00000370017.3	+	8	1901	c.1624G>T	c.(1624-1626)Gtg>Ttg	p.V542L	FNDC7_ENST00000271311.2_Splice_Site_p.V543L	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	542	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)		p.V309L(1)|p.V542L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CCTGGAAACAGGTATGTAGCA	0.532																																						uc001dvx.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1624-1626)GTG>TTG		fibronectin type III domain containing 7							59.0	56.0	57.0					1																	109271508		2203	4300	6503	SO:0001630	splice_region_variant	163479					extracellular region		g.chr1:109271508G>T		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1624+1G>T	1.37:g.109271508G>T						FNDC7_uc010ova.1_Missense_Mutation_p.V309L	p.V542L	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	8	1624	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	543					A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	ENST00000370017.3	37	c.1624G>T	CCDS44185.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.69|13.69	2.312827|2.312827	0.40895|0.40895	.|.	.|.	ENSG00000143107|ENSG00000143107	ENST00000445274|ENST00000370017;ENST00000271311	.|T;T	.|0.04862	.|3.54;3.54	6.04|6.04	5.11|5.11	0.69529|0.69529	.|Fibronectin, type III (1);Immunoglobulin-like fold (1);	.|0.255560	.|0.37219	.|N	.|0.002192	T|T	0.04452|0.04452	0.0122|0.0122	M|M	0.68952|0.68952	2.095|2.095	0.52099|0.52099	D|D	0.999943|0.999943	.|B;B	.|0.29270	.|0.031;0.24	.|B;B	.|0.26864	.|0.021;0.074	T|T	0.22452|0.22452	-1.0216|-1.0216	5|10	.|0.25751	.|T	.|0.34	-6.1048|-6.1048	17.282|17.282	0.87131|0.87131	0.0:0.1254:0.8746:0.0|0.0:0.1254:0.8746:0.0	.|.	.|543;542	.|Q5VTL7;E9PAZ5	.|FNDC7_HUMAN;.	I|L	317|542;543	.|ENSP00000359034:V542L;ENSP00000271311:V543L	.|ENSP00000271311:V543L	S|V	+|+	2|1	0|0	FNDC7|FNDC7	109073031|109073031	1.000000|1.000000	0.71417|0.71417	0.395000|0.395000	0.26283|0.26283	0.225000|0.225000	0.24961|0.24961	7.478000|7.478000	0.81082|0.81082	1.529000|1.529000	0.49120|0.49120	0.650000|0.650000	0.86243|0.86243	AGT|GTG		PASS	0.532	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532	Missense_Mutation	9	16	9	16	---	---	---	---
GSTM4	2948	broad.mit.edu	37	1	110201701	110201701	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:110201701C>A	ENST00000369836.4	+	7	845	c.536C>A	c.(535-537)cCa>cAa	p.P179Q	GSTM4_ENST00000326729.5_Missense_Mutation_p.P179Q|GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000369833.1_Missense_Mutation_p.P138Q|GSTM4_ENST00000336075.5_Missense_Mutation_p.P118Q	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	179	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)	p.P138Q(1)|p.P179Q(1)		endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GACGCCTTTCCAAATCTGAAG	0.498																																						uc001dyf.2																			2	Substitution - Missense(2)		lung(2)		0						c.(535-537)CCA>CAA		glutathione S-transferase mu 4 isoform 1	Glutathione(DB00143)						390.0	364.0	373.0					1																	110201701		2203	4297	6500	SO:0001583	missense	2948				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110201701C>A	M96234	CCDS806.1, CCDS807.1	1p13.3	2012-06-22	2008-11-26		ENSG00000168765	ENSG00000168765	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4636	protein-coding gene	gene with protein product		138333	"""glutathione S-transferase M4"""			8276420	Standard	NM_000850		Approved		uc001dyf.3	Q03013	OTTHUMG00000011642	ENST00000369836.4:c.536C>A	1.37:g.110201701C>A	ENSP00000358851:p.Pro179Gln					GSTM4_uc001dyg.2_Missense_Mutation_p.P75Q|GSTM4_uc009wfj.2_Missense_Mutation_p.P118Q|GSTM4_uc001dyh.2_Missense_Mutation_p.P179Q|GSTM2_uc001dyi.2_Intron	p.P179Q	NM_000850	NP_000841	Q03013	GSTM4_HUMAN		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	7	850	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	179			GST C-terminal.		A8K765|Q05465|Q32NC1|Q4JNT8|Q6FH87	Missense_Mutation	SNP	ENST00000369836.4	37	c.536C>A	CCDS807.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061965	0.36373	.	.	ENSG00000168765	ENST00000369836;ENST00000336075;ENST00000326729;ENST00000369833	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	4.01	3.1	0.35709	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.141760	0.44688	D	0.000437	T	0.20170	0.0485	M	0.87827	2.91	0.34840	D	0.740541	B;B;B	0.32467	0.255;0.049;0.372	B;B;B	0.43194	0.411;0.036;0.281	T	0.06023	-1.0850	10	0.52906	T	0.07	-14.6894	5.3276	0.15915	0.1987:0.6946:0.0:0.1067	.	118;179;179	Q4JNT8;Q03013-2;Q03013	.;.;GSTM4_HUMAN	Q	179;118;179;138	ENSP00000358851:P179Q;ENSP00000336744:P118Q;ENSP00000316471:P179Q;ENSP00000358848:P138Q	ENSP00000316471:P179Q	P	+	2	0	GSTM4	110003224	0.032000	0.19561	0.356000	0.25785	0.004000	0.04260	2.433000	0.44793	1.067000	0.40740	-0.667000	0.03836	CCA		PASS	0.498	GSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032187.1	NM_000850		9	367	9	367	---	---	---	---
CSF1	1435	broad.mit.edu	37	1	110460061	110460061	+	Silent	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:110460061C>A	ENST00000329608.6	+	4	763	c.372C>A	c.(370-372)acC>acA	p.T124T	CSF1_ENST00000344188.5_Silent_p.T124T|CSF1_ENST00000526001.1_3'UTR|CSF1_ENST00000369801.1_Silent_p.T124T|CSF1_ENST00000420111.2_Silent_p.T124T|CSF1_ENST00000369802.3_Silent_p.T124T	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	124					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)	p.T124T(1)		breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCTGCTTCACCAAGGATTATG	0.557																																						uc001dyu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(370-372)ACC>ACA		colony stimulating factor 1 isoform a precursor							219.0	211.0	214.0					1																	110460061		2203	4300	6503	SO:0001819	synonymous_variant	1435				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	g.chr1:110460061C>A	BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.372C>A	1.37:g.110460061C>A						CSF1_uc001dyt.2_Silent_p.T124T|CSF1_uc001dyv.3_Silent_p.T124T|CSF1_uc001dyw.3_Silent_p.T124T	p.T124T	NM_172212	NP_757351	P09603	CSF1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)	4	785	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)	124			Lumenal (Potential).		A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Silent	SNP	ENST00000329608.6	37	c.372C>A	CCDS816.1																																																																																				PASS	0.557	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757		8	261	8	261	---	---	---	---
CD101	9398	broad.mit.edu	37	1	117556285	117556285	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:117556285C>G	ENST00000256652.4	+	4	1157	c.1099C>G	c.(1099-1101)Ctg>Gtg	p.L367V	CD101_ENST00000369470.1_Missense_Mutation_p.L367V	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	367	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.L367V(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GATCTTCTCTCTGGGCCCAGA	0.517																																						uc010oxb.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1099-1101)CTG>GTG		immunoglobulin superfamily, member 2 precursor							73.0	75.0	74.0					1																	117556285		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117556285C>G	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1099C>G	1.37:g.117556285C>G	ENSP00000256652:p.Leu367Val					CD101_uc009whd.2_Missense_Mutation_p.L367V|CD101_uc010oxc.1_Missense_Mutation_p.L367V|CD101_uc010oxd.1_Missense_Mutation_p.L305V	p.L367V	NM_004258	NP_004249	Q93033	IGSF2_HUMAN			4	1157	+			367			Ig-like C2-type 3.|Extracellular (Potential).		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.1099C>G	CCDS891.1	.	.	.	.	.	.	.	.	.	.	C	3.859	-0.030355	0.07543	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.02369	4.32;4.32	5.85	2.54	0.30619	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.106060	0.06860	N	0.798814	T	0.00356	0.0011	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36601	-0.9741	10	0.02654	T	1	0.0021	6.5171	0.22254	0.1853:0.162:0.6526:0.0	.	367	Q93033	IGSF2_HUMAN	V	367	ENSP00000256652:L367V;ENSP00000358482:L367V	ENSP00000256652:L367V	L	+	1	2	CD101	117357808	0.009000	0.17119	0.619000	0.29118	0.201000	0.24016	1.706000	0.37878	0.820000	0.34516	-0.165000	0.13383	CTG		PASS	0.517	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		14	42	14	42	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144873931	144873931	+	Missense_Mutation	SNP	T	T	C	rs137931320	byFrequency	TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:144873931T>C	ENST00000369354.3	-	31	5215	c.5026A>G	c.(5026-5028)Atc>Gtc	p.I1676V	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.I1676V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.I1812V|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.I1632V|PDE4DIP_ENST00000530740.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1676					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.I1676V(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGCAAGCTGATGGGGTTGCTG	0.517			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(5026-5028)ATC>GTC		phosphodiesterase 4D interacting protein isoform							404.0	404.0	404.0					1																	144873931		2203	4299	6502	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144873931T>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5026A>G	1.37:g.144873931T>C	ENSP00000358360:p.Ile1676Val					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.I1632V|PDE4DIP_uc001elv.3_Missense_Mutation_p.I683V	p.I1676V	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	31	5317	-			1676					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.5026A>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	1.483	-0.556761	0.03967	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369359	T;T;T;T	0.01527	4.8;4.95;4.95;4.94	5.27	2.93	0.34026	.	.	.	.	.	T	0.00496	0.0016	N	0.22421	0.69	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.46005	-0.9222	9	0.21014	T	0.42	.	5.6993	0.17873	0.0:0.2159:0.0:0.7841	.	1632;1676	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	V	1632;1676;1676;1812	ENSP00000327209:I1632V;ENSP00000358360:I1676V;ENSP00000358363:I1676V;ENSP00000358366:I1812V	ENSP00000327209:I1632V	I	-	1	0	PDE4DIP	143585288	0.994000	0.37717	0.983000	0.44433	0.819000	0.46315	0.677000	0.25262	1.021000	0.39600	0.528000	0.53228	ATC		PASS	0.517	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		31	248	31	248	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145531022	145531022	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:145531022G>T	ENST00000369304.3	+	7	929	c.754G>T	c.(754-756)Gcc>Tcc	p.A252S	ITGA10_ENST00000538811.1_Missense_Mutation_p.A121S|ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000539363.1_Missense_Mutation_p.A109S	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	252	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.A252S(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AATAATGGTGGCCTGGTGAGG	0.562																																						uc001eoa.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(754-756)GCC>TCC		integrin, alpha 10 precursor							98.0	82.0	88.0					1																	145531022		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145531022G>T	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.754G>T	1.37:g.145531022G>T	ENSP00000358310:p.Ala252Ser					NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.A121S|ITGA10_uc009wiw.2_Missense_Mutation_p.A109S|ITGA10_uc010oyw.1_Missense_Mutation_p.A197S	p.A252S	NM_003637	NP_003628	O75578	ITA10_HUMAN			7	830	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		252			VWFA.|Extracellular (Potential).		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.754G>T	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.223243	0.79464	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	D;D;D	0.86694	-2.16;-2.16;-2.16	4.78	4.78	0.61160	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000003	D	0.92254	0.7543	M	0.82323	2.585	0.58432	D	0.999997	D;D;P;D	0.89917	0.985;1.0;0.851;1.0	P;D;P;D	0.85130	0.891;0.991;0.562;0.997	D	0.93256	0.6639	10	0.72032	D	0.01	.	13.2954	0.60294	0.0:0.0:1.0:0.0	.	218;121;109;252	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	S	252;218;109;121	ENSP00000358310:A252S;ENSP00000439894:A109S;ENSP00000440011:A121S	ENSP00000358310:A252S	A	+	1	0	ITGA10	144242379	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	8.132000	0.89603	2.198000	0.70561	0.563000	0.77884	GCC		PASS	0.562	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		8	21	8	21	---	---	---	---
ACP6	51205	broad.mit.edu	37	1	147126410	147126410	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:147126410C>A	ENST00000369238.6	-	6	1126	c.679G>T	c.(679-681)Gga>Tga	p.G227*	ACP6_ENST00000392988.2_Nonsense_Mutation_p.G227*	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	227					dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)	p.G227*(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					TCTGAGATTCCTGGCTGTAAA	0.438																																						uc001epr.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)	4						c.(679-681)GGA>TGA		acid phosphatase 6, lysophosphatidic precursor							127.0	108.0	114.0					1																	147126410		2203	4300	6503	SO:0001587	stop_gained	51205				lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding	g.chr1:147126410C>A	BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.679G>T	1.37:g.147126410C>A	ENSP00000358241:p.Gly227*					ACP6_uc009wjj.1_Nonsense_Mutation_p.G184*	p.G227*	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN			6	1143	-	all_hematologic(923;0.0276)		227					Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Nonsense_Mutation	SNP	ENST00000369238.6	37	c.679G>T	CCDS928.1	.	.	.	.	.	.	.	.	.	.	C	39	7.570052	0.98365	.	.	ENSG00000162836	ENST00000369238;ENST00000392988	.	.	.	5.59	4.67	0.58626	.	0.330121	0.35349	N	0.003262	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-18.6108	16.0767	0.80974	0.0:0.8654:0.1346:0.0	.	.	.	.	X	227	.	ENSP00000358241:G227X	G	-	1	0	ACP6	145593034	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.387000	0.59626	1.329000	0.45376	0.655000	0.94253	GGA		PASS	0.438	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361		6	57	6	57	---	---	---	---
FCGR1A	2209	broad.mit.edu	37	1	149761656	149761656	+	Silent	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:149761656C>T	ENST00000369168.4	+	5	660	c.606C>T	c.(604-606)ctC>ctT	p.L202L	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.3_ENST00000428289.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	202	Ig-like C2-type 3.				antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)	p.L202L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CATCCCCACTCCTGGAGGGGA	0.512																																						uc001esp.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(604-606)CTC>CTT		Fc fragment of IgG, high affinity Ia, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						25.0	31.0	29.0					1																	149761656		2193	4295	6488	SO:0001819	synonymous_variant	2209				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity	g.chr1:149761656C>T	BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.606C>T	1.37:g.149761656C>T						HIST2H2BF_uc010pbj.1_Intron|FCGR1A_uc009wlg.2_Intron	p.L202L	NM_000566	NP_000557	P12314	FCGR1_HUMAN			5	656	+	Breast(34;0.0124)|all_hematologic(923;0.127)		202			Extracellular (Potential).|Ig-like C2-type 3.		P12315|Q5QNW7|Q92495|Q92663	Silent	SNP	ENST00000369168.4	37	c.606C>T	CCDS933.1																																																																																				PASS	0.512	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033446.1	NM_000566		9	21	9	21	---	---	---	---
MTMR11	10903	broad.mit.edu	37	1	149905510	149905510	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:149905510C>G	ENST00000439741.2	-	9	1103	c.853G>C	c.(853-855)Gat>Cat	p.D285H	MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Missense_Mutation_p.D213H|MTMR11_ENST00000406732.3_Missense_Mutation_p.D257H|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	285	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)	p.D285H(1)|p.D213H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CACCTGATATCCTCCTTGTTA	0.542																																						uc001etl.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(853-855)GAT>CAT		myotubularin related protein 11 isoform a							139.0	105.0	116.0					1																	149905510		2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149905510C>G	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.853G>C	1.37:g.149905510C>G	ENSP00000391668:p.Asp285His					MTMR11_uc001etm.1_Missense_Mutation_p.D213H|MTMR11_uc010pbm.1_Missense_Mutation_p.D257H|MTMR11_uc010pbn.1_Missense_Mutation_p.D127H	p.D285H	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		9	1104	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		285			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.853G>C	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398094	0.42512	.	.	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000406732;ENST00000405710	D;D;D	0.95554	-3.74;-3.01;-3.74	5.29	5.29	0.74685	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.222920	0.39210	N	0.001430	D	0.93939	0.8060	L	0.27053	0.805	0.58432	D	0.99999	D;D;B;B	0.89917	1.0;1.0;0.003;0.003	D;D;B;B	0.74023	0.982;0.982;0.006;0.011	D	0.93811	0.7110	10	0.54805	T	0.06	.	9.7808	0.40647	0.0:0.9091:0.0:0.0909	.	127;257;213;285	F8W8W0;A4FU01-6;A4FU01-4;A4FU01	.;.;.;MTMRB_HUMAN	H	213;285;257;127	ENSP00000358136:D213H;ENSP00000391668:D285H;ENSP00000383948:D257H	ENSP00000358136:D213H	D	-	1	0	MTMR11	148172134	0.997000	0.39634	0.895000	0.35142	0.989000	0.77384	3.558000	0.53749	2.761000	0.94854	0.655000	0.94253	GAT		PASS	0.542	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		21	46	21	46	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152190884	152190884	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:152190884G>T	ENST00000368801.2	-	3	3296	c.3221C>A	c.(3220-3222)tCt>tAt	p.S1074Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1074					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S1074Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCATGGGTAGAGGAATGACC	0.562																																						uc001ezt.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(3220-3222)TCT>TAT		hornerin							280.0	305.0	296.0					1																	152190884		2202	4300	6502	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152190884G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.3221C>A	1.37:g.152190884G>T	ENSP00000357791:p.Ser1074Tyr						p.S1074Y	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3297	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1074			12.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.3221C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	7.056	0.565453	0.13560	.	.	ENSG00000197915	ENST00000368801	T	0.01871	4.59	4.24	3.33	0.38152	.	.	.	.	.	T	0.02610	0.0079	L	0.50333	1.59	0.09310	N	1	D	0.69078	0.997	D	0.65573	0.936	T	0.49390	-0.8945	9	0.22706	T	0.39	.	9.9892	0.41860	0.1008:0.0:0.8992:0.0	.	1074	Q86YZ3	HORN_HUMAN	Y	1074	ENSP00000357791:S1074Y	ENSP00000357791:S1074Y	S	-	2	0	HRNR	150457508	0.048000	0.20356	0.001000	0.08648	0.003000	0.03518	1.155000	0.31700	1.004000	0.39156	0.456000	0.33151	TCT		PASS	0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		10	360	10	360	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152285051	152285051	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:152285051G>T	ENST00000368799.1	-	3	2346	c.2311C>A	c.(2311-2313)Cat>Aat	p.H771N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	771	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.H771N(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)			CTCTGCTGATGGTGACCAGCC	0.562									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(2311-2313)CAT>AAT		filaggrin							344.0	325.0	332.0					1																	152285051		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.chr1:152285051G>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.2311C>A	1.37:g.152285051G>T	ENSP00000357789:p.His771Asn					uc001ezv.2_5'Flank	p.H771N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2347	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		771			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2311C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	0.123	-1.123394	0.01770	.	.	ENSG00000143631	ENST00000368799	T	0.01613	4.73	2.41	-4.82	0.03171	.	.	.	.	.	T	0.00496	0.0016	M	0.72479	2.2	0.09310	N	1	B	0.18968	0.032	B	0.09377	0.004	T	0.48410	-0.9038	9	0.17832	T	0.49	.	1.5063	0.02487	0.2562:0.1164:0.4078:0.2196	.	771	P20930	FILA_HUMAN	N	771	ENSP00000357789:H771N	ENSP00000357789:H771N	H	-	1	0	FLG	150551675	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.266000	0.00534	-3.453000	0.00160	-0.788000	0.03338	CAT		PASS	0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		9	305	9	305	---	---	---	---
KPRP	448834	broad.mit.edu	37	1	152732412	152732412	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:152732412G>T	ENST00000606109.1	+	1	376	c.348G>T	c.(346-348)gaG>gaT	p.E116D	KPRP_ENST00000368773.1_Missense_Mutation_p.E116D			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	116	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.E116D(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAATCTGAGGTGTCCTACG	0.502																																						uc001fal.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(346-348)GAG>GAT		keratinocyte proline-rich protein							266.0	252.0	257.0					1																	152732412		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732412G>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.348G>T	1.37:g.152732412G>T	ENSP00000475216:p.Glu116Asp						p.E116D	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	406	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		116			Gln-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.348G>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	8.987	0.976720	0.18812	.	.	ENSG00000203786	ENST00000368773	T	0.13196	2.61	5.5	-1.12	0.09808	.	0.709782	0.12295	N	0.481715	T	0.04634	0.0126	L	0.57536	1.79	0.09310	N	1	B	0.19817	0.039	B	0.26517	0.07	T	0.40478	-0.9561	10	0.59425	D	0.04	1.0E-4	4.7756	0.13178	0.3217:0.2746:0.4037:0.0	.	116	Q5T749	KPRP_HUMAN	D	116	ENSP00000357762:E116D	ENSP00000357762:E116D	E	+	3	2	KPRP	150999036	0.016000	0.18221	0.001000	0.08648	0.003000	0.03518	-0.134000	0.10436	-0.377000	0.07930	-0.140000	0.14226	GAG		PASS	0.502	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		10	395	10	395	---	---	---	---
PGLYRP4	57115	broad.mit.edu	37	1	153318633	153318633	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:153318633C>A	ENST00000359650.5	-	3	148	c.84G>T	c.(82-84)caG>caT	p.Q28H	PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000368739.3_Missense_Mutation_p.Q28H	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	28					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.Q28H(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTCTGATACCTGTTTAGCTT	0.488																																						uc001fbo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(82-84)CAG>CAT		peptidoglycan recognition protein-I-beta							281.0	278.0	279.0					1																	153318633		2203	4300	6503	SO:0001583	missense	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153318633C>A	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.84G>T	1.37:g.153318633C>A	ENSP00000352672:p.Gln28His					PGLYRP4_uc001fbp.2_Missense_Mutation_p.Q28H	p.Q28H	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	149	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		28					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	c.84G>T	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	C	5.058	0.196432	0.09599	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.05199	3.48;3.49	3.25	-2.52	0.06346	.	2.176190	0.02840	N	0.127794	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.001	T	0.45848	-0.9233	10	0.41790	T	0.15	.	0.1888	0.00132	0.2393:0.2194:0.2775:0.2637	.	28;28	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	H	28	ENSP00000357728:Q28H;ENSP00000352672:Q28H	ENSP00000352672:Q28H	Q	-	3	2	PGLYRP4	151585257	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.000000	0.01466	-0.552000	0.06167	0.462000	0.41574	CAG		PASS	0.488	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		7	190	7	190	---	---	---	---
CLK2	1196	broad.mit.edu	37	1	155239429	155239429	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:155239429G>T	ENST00000368361.4	-	3	564	c.249C>A	c.(247-249)agC>agA	p.S83R	CLK2_ENST00000355560.4_Missense_Mutation_p.S82R|CLK2_ENST00000536801.1_Missense_Mutation_p.S83R|CLK2_ENST00000361168.5_Missense_Mutation_p.S83R|CLK2_ENST00000497188.1_5'Flank			P49760	CLK2_HUMAN	CDC-like kinase 2	83					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.S83R(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCGATCCCGGCTATAATCGT	0.527								Other conserved DNA damage response genes																														uc001fjy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)AGC>AGA	Other_conserved_DNA_damage_response_genes	CDC-like kinase 2							148.0	134.0	139.0					1																	155239429		2203	4300	6503	SO:0001583	missense	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155239429G>T	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.249C>A	1.37:g.155239429G>T	ENSP00000357345:p.Ser83Arg					RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Missense_Mutation_p.S83R|CLK2_uc001fjx.2_5'UTR|CLK2_uc009wqm.2_Missense_Mutation_p.S83R	p.S83R	NM_003993	NP_003984	P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	539	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		83					B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37	c.249C>A		.	.	.	.	.	.	.	.	.	.	.	12.52	1.963376	0.34659	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000536801	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	4.91	2.99	0.34606	.	0.077367	0.85682	N	0.000000	T	0.27594	0.0678	L	0.54323	1.7	0.51012	D	0.999903	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.11251	-1.0595	10	0.38643	T	0.18	.	9.0764	0.36525	0.0821:0.1486:0.7693:0.0	.	83;83	P49760;P49760-3	CLK2_HUMAN;.	R	83;83;82;83	ENSP00000354856:S83R;ENSP00000357345:S83R;ENSP00000347759:S82R;ENSP00000441023:S83R	ENSP00000347759:S82R	S	-	3	2	CLK2	153506053	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	5.094000	0.64523	0.648000	0.30732	0.650000	0.86243	AGC		PASS	0.527	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		23	108	23	108	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156954202	156954202	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:156954202T>C	ENST00000361409.2	-	3	894	c.152A>G	c.(151-153)cAa>cGa	p.Q51R	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.Q51R|RN7SL612P_ENST00000497704.2_RNA	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	51	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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.Q51R(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)					CTGGTCCTTTTGGATAATGAC	0.557																																						uc001fqo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(151-153)CAA>CGA		Rho guanine nucleotide exchange factor (GEF) 11							129.0	76.0	94.0					1																	156954202		2203	4299	6502	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.chr1:156954202T>C	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.152A>G	1.37:g.156954202T>C	ENSP00000354644:p.Gln51Arg					ARHGEF11_uc001fqn.2_Missense_Mutation_p.Q51R	p.Q51R	NM_014784	NP_055599	O15085	ARHGB_HUMAN			3	1192	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		51			PDZ.		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.152A>G	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.531090	0.85706	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.27557	1.66;1.66	5.08	5.08	0.68730	PDZ/DHR/GLGF (3);	0.000000	0.53938	D	0.000058	T	0.30696	0.0773	N	0.25201	0.72	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.996;0.997	T	0.16689	-1.0394	10	0.52906	T	0.07	-13.8744	13.9783	0.64285	0.0:0.0:0.0:1.0	.	51;51	O15085;O15085-2	ARHGB_HUMAN;.	R	51	ENSP00000357177:Q51R;ENSP00000354644:Q51R	ENSP00000354644:Q51R	Q	-	2	0	ARHGEF11	155220826	1.000000	0.71417	0.957000	0.39632	0.992000	0.81027	6.114000	0.71560	2.127000	0.65507	0.533000	0.62120	CAA		PASS	0.557	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		3	5	3	5	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157504490	157504490	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:157504490G>A	ENST00000361835.3	-	8	1752	c.1595C>T	c.(1594-1596)aCt>aTt	p.T532I	FCRL5_ENST00000356953.4_Missense_Mutation_p.T532I|FCRL5_ENST00000368191.3_Missense_Mutation_p.T447I|FCRL5_ENST00000368190.3_Missense_Mutation_p.T532I|FCRL5_ENST00000368189.3_Missense_Mutation_p.T532I	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	532	Ig-like C2-type 5.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.T532I(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ATGTCCTTCAGTCAGAGAGAA	0.507																																						uc001fqu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.(1594-1596)ACT>ATT		Fc receptor-like 5							56.0	56.0	56.0					1																	157504490		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157504490G>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1595C>T	1.37:g.157504490G>A	ENSP00000354691:p.Thr532Ile					FCRL5_uc009wsm.2_Missense_Mutation_p.T532I|FCRL5_uc010phv.1_Missense_Mutation_p.T532I|FCRL5_uc010phw.1_Missense_Mutation_p.T447I|FCRL5_uc001fqv.1_Missense_Mutation_p.T532I|FCRL5_uc010phx.1_Missense_Mutation_p.T283I	p.T532I	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			8	1753	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	532			Extracellular (Potential).|Ig-like C2-type 5.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1595C>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183735	0.38609	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	3.39	1.38	0.22167	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.426820	0.04971	N	0.463866	T	0.27313	0.0670	M	0.87617	2.895	0.09310	N	0.999997	D;P;D;D;D;D	0.89917	0.995;0.882;0.985;0.982;1.0;0.998	D;P;P;D;D;D	0.97110	0.956;0.6;0.828;0.911;1.0;0.944	T	0.01661	-1.1301	10	0.44086	T	0.13	.	4.433	0.11536	0.1379:0.2484:0.6138:0.0	.	563;447;532;532;532;532	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	I	532;532;532;447;532	ENSP00000354691:T532I;ENSP00000349434:T532I;ENSP00000357173:T532I;ENSP00000357174:T447I;ENSP00000357172:T532I	ENSP00000349434:T532I	T	-	2	0	FCRL5	155771114	0.063000	0.20901	0.001000	0.08648	0.044000	0.14063	0.406000	0.21032	0.217000	0.20800	0.313000	0.20887	ACT		PASS	0.507	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		6	15	6	15	---	---	---	---
PYHIN1	149628	broad.mit.edu	37	1	158914791	158914791	+	Nonsense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:158914791C>T	ENST00000368140.1	+	7	1563	c.1318C>T	c.(1318-1320)Cag>Tag	p.Q440*	PYHIN1_ENST00000368138.3_Nonsense_Mutation_p.Q431*|PYHIN1_ENST00000392254.2_Nonsense_Mutation_p.Q440*|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Nonsense_Mutation_p.Q431*	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	440					cell cycle (GO:0007049)	nucleus (GO:0005634)		p.Q440*(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CAAGACTCCTCAGATGCCACC	0.488																																						uc001ftb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1318-1320)CAG>TAG		pyrin and HIN domain family, member 1 alpha 1							154.0	151.0	152.0					1																	158914791		2203	4300	6503	SO:0001587	stop_gained	149628				cell cycle	nuclear speck		g.chr1:158914791C>T	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1318C>T	1.37:g.158914791C>T	ENSP00000357122:p.Gln440*					PYHIN1_uc001ftc.2_Nonsense_Mutation_p.Q431*|PYHIN1_uc001ftd.2_Nonsense_Mutation_p.Q440*|PYHIN1_uc001fte.2_Nonsense_Mutation_p.Q431*	p.Q440*	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			7	1563	+	all_hematologic(112;0.0378)		440					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Nonsense_Mutation	SNP	ENST00000368140.1	37	c.1318C>T	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214176	0.79352	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	.	.	.	2.32	2.32	0.28847	.	.	.	.	.	.	.	.	.	.	.	0.25561	N	0.986993	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	8.2143	0.31503	0.0:1.0:0.0:0.0	.	.	.	.	X	440;431;440;431	.	ENSP00000357120:Q431X	Q	+	1	0	PYHIN1	157181415	0.006000	0.16342	0.099000	0.21106	0.028000	0.11728	0.430000	0.21428	1.603000	0.50134	0.585000	0.79938	CAG		PASS	0.488	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		10	30	10	30	---	---	---	---
OLFML2B	25903	broad.mit.edu	37	1	161967615	161967615	+	Splice_Site	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:161967615C>A	ENST00000294794.3	-	6	1897	c.1474G>T	c.(1474-1476)Gga>Tga	p.G492*	OLFML2B_ENST00000367940.2_Splice_Site_p.G493*	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	492					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.G492*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ATGAACTTACCTATGACATTC	0.542																																						uc001gbu.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1474-1476)GGA>TGA		olfactomedin-like 2B precursor							184.0	184.0	184.0					1																	161967615		2203	4300	6503	SO:0001630	splice_region_variant	25903							g.chr1:161967615C>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1474+1G>T	1.37:g.161967615C>A						OLFML2B_uc010pkq.1_Nonsense_Mutation_p.G493*	p.G492*	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		6	1898	-	all_hematologic(112;0.156)		492					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Nonsense_Mutation	SNP	ENST00000294794.3	37	c.1474G>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	38	7.240079	0.98157	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7911	0.69844	0.0:1.0:0.0:0.0	.	.	.	.	X	492;493	.	.	G	-	1	0	OLFML2B	160234239	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.325000	0.59234	2.348000	0.79779	0.462000	0.41574	GGA		PASS	0.542	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441	Nonsense_Mutation	9	304	9	304	---	---	---	---
ILDR2	387597	broad.mit.edu	37	1	166908752	166908752	+	Splice_Site	SNP	T	T	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:166908752T>A	ENST00000271417.3	-	4	610	c.555A>T	c.(553-555)ccA>ccT	p.P185P	ILDR2_ENST00000526687.1_Splice_Site_p.P185P|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000529071.1_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Splice_Site_p.P185P|ILDR2_ENST00000528703.1_Splice_Site_p.P185P	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	185					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.P185P(1)		NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						ACCGAATACCTGGCATAATCT	0.413																																						uc001gdx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(553-555)CCA>CCT		immunoglobulin-like domain containing receptor							110.0	94.0	99.0					1																	166908752		2203	4300	6503	SO:0001630	splice_region_variant	387597					integral to membrane		g.chr1:166908752T>A	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.556+1A>T	1.37:g.166908752T>A							p.P185P	NM_199351	NP_955383	Q71H61	ILDR2_HUMAN			4	611	-			185			Extracellular (Potential).			Silent	SNP	ENST00000271417.3	37	c.555A>T	CCDS1256.1																																																																																				PASS	0.413	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351	Silent	12	30	12	30	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183511607	183511607	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:183511607G>T	ENST00000347615.2	+	14	1931	c.1812G>T	c.(1810-1812)caG>caT	p.Q604H	SMG7_ENST00000515829.2_Intron|SMG7_ENST00000508461.1_Missense_Mutation_p.Q562H|SMG7_ENST00000507469.1_Intron|SMG7_ENST00000456731.2_Intron|SMG7_ENST00000367537.3_Intron	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	604					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.Q604H(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AAAAGTTACAGGAAACAGGAA	0.383																																						uc001gqg.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1810-1812)CAG>CAT		SMG-7 homolog isoform 1							83.0	80.0	81.0					1																	183511607		2202	4300	6502	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183511607G>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1812G>T	1.37:g.183511607G>T	ENSP00000340766:p.Gln604His					SMG7_uc010pob.1_Intron|SMG7_uc001gqf.2_Intron|SMG7_uc001gqh.2_Intron|SMG7_uc001gqi.2_Intron|SMG7_uc010poc.1_Missense_Mutation_p.Q562H	p.Q604H	NM_173156	NP_775179	Q92540	SMG7_HUMAN			14	1934	+			604					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.1812G>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100008	0.37048	.	.	ENSG00000116698	ENST00000508461;ENST00000347615	T;T	0.46819	0.86;0.86	5.06	5.06	0.68205	.	.	.	.	.	T	0.29288	0.0729	N	0.19112	0.55	0.80722	D	1	P;P	0.36438	0.553;0.553	B;B	0.28784	0.094;0.059	T	0.10132	-1.0643	8	.	.	.	.	13.7339	0.62807	0.0:0.0:0.846:0.154	.	562;604	E9PCI0;Q92540	.;SMG7_HUMAN	H	562;604	ENSP00000426915:Q562H;ENSP00000340766:Q604H	.	Q	+	3	2	SMG7	181778230	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.513000	0.35823	2.495000	0.84180	0.655000	0.94253	CAG		PASS	0.383	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		6	72	6	72	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186294905	186294905	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:186294905G>C	ENST00000367478.4	-	42	6399	c.6103C>G	c.(6103-6105)Caa>Gaa	p.Q2035E		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2035					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.Q2035E(1)|p.Q2022E(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CCACTGTTTTGAGAATCAGCA	0.338			T	NTRK1	papillary thyroid																																	uc001grv.2				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(6103-6105)CAA>GAA		nuclear pore complex-associated protein TPR							107.0	100.0	102.0					1																	186294905		1834	4083	5917	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186294905G>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6103C>G	1.37:g.186294905G>C	ENSP00000356448:p.Gln2035Glu						p.Q2035E	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	42	6400	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	2035					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.6103C>G	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483194	0.63962	.	.	ENSG00000047410	ENST00000367478	T	0.24350	1.86	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.27697	0.0681	L	0.58669	1.825	0.58432	D	0.999998	P	0.34662	0.462	B	0.28638	0.092	T	0.03384	-1.1042	10	0.27082	T	0.32	.	19.5946	0.95530	0.0:0.0:1.0:0.0	.	2035	P12270	TPR_HUMAN	E	2035	ENSP00000356448:Q2035E	ENSP00000356448:Q2035E	Q	-	1	0	TPR	184561528	1.000000	0.71417	0.994000	0.49952	0.768000	0.43524	7.842000	0.86851	2.625000	0.88918	0.655000	0.94253	CAA		PASS	0.338	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		6	18	6	18	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186324872	186324872	+	Silent	SNP	T	T	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:186324872T>C	ENST00000367478.4	-	16	2213	c.1917A>G	c.(1915-1917)gcA>gcG	p.A639A	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	639					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.A639A(1)|p.A640A(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTGGAGTTGATGCAAGAGAAA	0.393			T	NTRK1	papillary thyroid																																	uc001grv.2				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(1915-1917)GCA>GCG		nuclear pore complex-associated protein TPR							125.0	122.0	122.0					1																	186324872		1914	4131	6045	SO:0001819	synonymous_variant	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186324872T>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1917A>G	1.37:g.186324872T>C							p.A639A	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	16	2214	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	639					Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.1917A>G	CCDS41446.1																																																																																				PASS	0.393	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		22	31	22	31	---	---	---	---
CFHR2	3080	broad.mit.edu	37	1	196882045	196882045	+	Intron	SNP	T	T	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:196882045T>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000367416.2_Silent_p.I390I|CFHR4_ENST00000608469.1_Silent_p.I73I|CFHR4_ENST00000367418.2_Silent_p.I144I|CFHR4_ENST00000251424.4_Silent_p.I144I			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)		p.I390I(1)|p.I144I(1)		large_intestine(2)|ovary(1)|skin(3)	6						CACAACCAATTTGCATTAGTA	0.318																																						uc001gto.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(430-432)ATT>ATA		complement factor H-related 4 precursor							81.0	87.0	85.0					1																	196882045		2203	4294	6497	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196882045T>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-36540T>A	1.37:g.196882045T>A						CFHR4_uc009wyy.2_Silent_p.I390I|CFHR4_uc001gtp.2_Silent_p.I391I	p.I144I	NM_006684	NP_006675	Q92496	FHR4_HUMAN			3	501	+			144			Sushi 2.		Q14310|Q5T9T1	Silent	SNP	ENST00000367421.3	37	c.432T>A																																																																																					PASS	0.318	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		13	23	13	23	---	---	---	---
SHISA4	149345	broad.mit.edu	37	1	201859588	201859588	+	Silent	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:201859588G>A	ENST00000362011.6	+	3	539	c.252G>A	c.(250-252)aaG>aaA	p.K84K	SHISA4_ENST00000464117.1_3'UTR	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	84						integral component of membrane (GO:0016021)		p.K84K(1)		kidney(1)|lung(4)	5						AAAGCCCCAAGACCATAGCAG	0.562																																						uc001gxa.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(250-252)AAG>AAA		shisa homolog 4 precursor							197.0	165.0	176.0					1																	201859588		2203	4300	6503	SO:0001819	synonymous_variant	149345					integral to membrane		g.chr1:201859588G>A	AY358589	CCDS1416.1	1q32.1	2013-07-31	2013-07-31	2008-04-01	ENSG00000198892	ENSG00000198892		"""Shisa homologs"""	27139	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 40"", ""transmembrane protein 58"", ""shisa homolog 4 (Xenopus laevis)"""	C1orf40, TMEM58		12975309	Standard	NR_030775		Approved	hShisa4	uc001gxa.3	Q96DD7	OTTHUMG00000035807	ENST00000362011.6:c.252G>A	1.37:g.201859588G>A							p.K84K	NM_198149	NP_937792	Q96DD7	SHSA4_HUMAN			3	343	+			84			Extracellular (Potential).		B4DFI0|B7ZAJ7|Q5VUU1|Q6P711|Q6UWY7	Silent	SNP	ENST00000362011.6	37	c.252G>A	CCDS1416.1																																																																																				PASS	0.562	SHISA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087096.1	NM_198149		37	110	37	110	---	---	---	---
SYT2	127833	broad.mit.edu	37	1	202571625	202571625	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:202571625C>A	ENST00000367267.1	-	5	706	c.514G>T	c.(514-516)Gga>Tga	p.G172*	SYT2_ENST00000367268.4_Nonsense_Mutation_p.G172*|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	172	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.G172*(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GAGGTGCCTCCCATGTCCAGG	0.537																																						uc001gye.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(514-516)GGA>TGA		synaptotagmin II	Botulinum Toxin Type B(DB00042)						95.0	88.0	91.0					1																	202571625		2203	4300	6503	SO:0001587	stop_gained	127833				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:202571625C>A	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.514G>T	1.37:g.202571625C>A	ENSP00000356236:p.Gly172*					SYT2_uc010pqb.1_Nonsense_Mutation_p.G172*|SYT2_uc009xaf.2_Nonsense_Mutation_p.G2*	p.G172*	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)		5	707	-			172			Phospholipid binding (By similarity).|C2 1.|Cytoplasmic (Potential).		Q496K5|Q8NBE5	Nonsense_Mutation	SNP	ENST00000367267.1	37	c.514G>T	CCDS1427.1	.	.	.	.	.	.	.	.	.	.	C	39	7.362402	0.98238	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	.	.	.	5.58	5.58	0.84498	.	0.049027	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1848	0.93639	0.0:1.0:0.0:0.0	.	.	.	.	X	172	.	ENSP00000356236:G172X	G	-	1	0	SYT2	200838248	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	7.794000	0.85869	2.626000	0.88956	0.655000	0.94253	GGA		PASS	0.537	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		6	86	6	86	---	---	---	---
PPFIA4	8497	broad.mit.edu	37	1	203036822	203036822	+	Splice_Site	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:203036822G>C	ENST00000447715.2	+	31	3425		c.e31-1		PPFIA4_ENST00000272198.6_Splice_Site|PPFIA4_ENST00000414050.2_Splice_Site|PPFIA4_ENST00000295706.4_Splice_Site|PPFIA4_ENST00000367240.2_Splice_Site|PPFIA4_ENST00000599966.1_Splice_Site			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4						cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)		p.?(2)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGTGCCTGCAGAACCAGTCTT	0.562																																						uc001gyz.2																			2	Unknown(2)		lung(2)	ovary(4)|skin(1)	5						c.e13-1		protein tyrosine phosphatase, receptor type, f							76.0	81.0	79.0					1																	203036822		2155	4269	6424	SO:0001630	splice_region_variant	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203036822G>C	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2985-1G>C	1.37:g.203036822G>C						PPFIA4_uc009xaj.2_Splice_Site_p.R1142_splice|PPFIA4_uc010pqf.1_Splice_Site_p.R724_splice|PPFIA4_uc001gza.2_Splice_Site_p.R502_splice|PPFIA4_uc001gzb.1_Splice_Site_p.R197_splice|PPFIA4_uc001gzc.1_Splice_Site_p.R53_splice	p.R511_splice	NM_015053	NP_055868	O75335	LIPA4_HUMAN			13	2126	+								A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Splice_Site	SNP	ENST00000447715.2	37	c.1533_splice		.	.	.	.	.	.	.	.	.	.	G	19.75	3.884848	0.72410	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	.	.	.	3.89	3.89	0.44902	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4126	0.83723	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPFIA4	201303445	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.597000	0.98273	2.147000	0.66899	0.484000	0.47621	.		PASS	0.562	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053	Intron	19	34	19	34	---	---	---	---
TMEM206	55248	broad.mit.edu	37	1	212558649	212558649	+	Silent	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:212558649G>A	ENST00000261455.4	-	4	599	c.462C>T	c.(460-462)atC>atT	p.I154I	TMEM206_ENST00000535273.1_Silent_p.I215I|TMEM206_ENST00000471937.1_5'UTR	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	154						cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.I154I(2)		breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		CCGTGTAGTTGATCCTCTGGG	0.577																																						uc001hjc.3																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	breast(1)	1						c.(460-462)ATC>ATT		transmembrane protein 206							144.0	135.0	138.0					1																	212558649		2203	4300	6503	SO:0001819	synonymous_variant	55248					integral to membrane		g.chr1:212558649G>A	AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 75"""	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.462C>T	1.37:g.212558649G>A						TMEM206_uc010pte.1_Silent_p.I215I	p.I154I	NM_018252	NP_060722	Q9H813	TM206_HUMAN		all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)	4	630	-			154			Extracellular (Potential).		B7Z4D6|Q6IA87|Q9NV85	Silent	SNP	ENST00000261455.4	37	c.462C>T	CCDS1504.1																																																																																				PASS	0.577	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252		10	68	10	68	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216052233	216052233	+	Missense_Mutation	SNP	G	G	A	rs111033529	byFrequency	TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:216052233G>A	ENST00000307340.3	-	42	8817	c.8431C>T	c.(8431-8433)Cct>Tct	p.P2811S	USH2A_ENST00000366943.2_Missense_Mutation_p.P2811S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2811	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.P2811S(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACATAGGTAGGTAAACTCTCT	0.443										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(8431-8433)CCT>TCT		usherin isoform B							180.0	163.0	169.0					1																	216052233		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216052233G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8431C>T	1.37:g.216052233G>A	ENSP00000305941:p.Pro2811Ser	HNSCC(13;0.011)					p.P2811S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	42	8818	-			2811			Fibronectin type-III 14.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8431C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936226	0.73442	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55588	0.51;0.51	5.79	5.79	0.91817	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.44902	D	0.000419	T	0.65165	0.2665	M	0.64567	1.98	0.58432	D	0.999996	D	0.62365	0.991	P	0.57101	0.813	T	0.57201	-0.7852	10	0.15066	T	0.55	.	20.0435	0.97601	0.0:0.0:1.0:0.0	.	2811	O75445	USH2A_HUMAN	S	2811	ENSP00000305941:P2811S;ENSP00000355910:P2811S	ENSP00000305941:P2811S	P	-	1	0	USH2A	214118856	1.000000	0.71417	0.265000	0.24526	0.701000	0.40568	7.230000	0.78097	2.731000	0.93534	0.650000	0.86243	CCT		PASS	0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		11	18	11	18	---	---	---	---
ESRRG	2104	broad.mit.edu	37	1	216850693	216850693	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:216850693C>A	ENST00000408911.3	-	2	350	c.197G>T	c.(196-198)gGg>gTg	p.G66V	ESRRG_ENST00000366940.2_Missense_Mutation_p.G43V|ESRRG_ENST00000493603.1_Missense_Mutation_p.G43V|ESRRG_ENST00000493748.1_Missense_Mutation_p.G43V|ESRRG_ENST00000361395.2_Missense_Mutation_p.G43V|ESRRG_ENST00000361525.3_Missense_Mutation_p.G43V|ESRRG_ENST00000391890.3_Missense_Mutation_p.G43V|ESRRG_ENST00000487276.1_Missense_Mutation_p.G43V|ESRRG_ENST00000366937.1_Missense_Mutation_p.G71V|ESRRG_ENST00000463665.1_Missense_Mutation_p.G43V|ESRRG_ENST00000359162.2_Missense_Mutation_p.G43V|ESRRG_ENST00000360012.3_Missense_Mutation_p.G43V|ESRRG_ENST00000366938.2_Missense_Mutation_p.G43V	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	66					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G66V(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ACTGTAGCTCCCACTGGCGTC	0.577																																						uc001hkw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(196-198)GGG>GTG		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						120.0	106.0	111.0					1																	216850693		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216850693C>A	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.197G>T	1.37:g.216850693C>A	ENSP00000386171:p.Gly66Val					ESRRG_uc001hky.1_Missense_Mutation_p.G43V|ESRRG_uc009xdp.1_Missense_Mutation_p.G43V|ESRRG_uc001hkz.1_Missense_Mutation_p.G43V|ESRRG_uc010puc.1_Missense_Mutation_p.G43V|ESRRG_uc001hla.1_Missense_Mutation_p.G43V|ESRRG_uc001hlb.1_Missense_Mutation_p.G43V|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.G43V|ESRRG_uc001hld.1_Missense_Mutation_p.G43V|ESRRG_uc001hkx.1_Missense_Mutation_p.G71V|ESRRG_uc009xdo.1_Missense_Mutation_p.G43V|ESRRG_uc001hle.1_Missense_Mutation_p.G43V	p.G66V	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	2	363	-			66					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.197G>T	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178026	0.94846	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275;ENST00000469486;ENST00000459955;ENST00000481543	D;D;D;D;D;D;D;D;D;D;D;D;D;D;T;T;T	0.94931	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.2;-3.56;-3.18;-3.18;-3.0;0.35;0.14;0.08	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.96568	0.8880	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	0.983;1.0;1.0	D;D;D	0.87578	0.917;0.998;0.994	D	0.94728	0.7907	10	0.32370	T	0.25	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	43;71;66	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	V	43;43;71;66;43;43;43;43;43;43;43;43;43;43;43;43;43;43	ENSP00000355225:G43V;ENSP00000355907:G43V;ENSP00000355904:G71V;ENSP00000386171:G66V;ENSP00000352077:G43V;ENSP00000354584:G43V;ENSP00000355905:G43V;ENSP00000353108:G43V;ENSP00000419594:G43V;ENSP00000375761:G43V;ENSP00000418629:G43V;ENSP00000419155:G43V;ENSP00000417374:G43V;ENSP00000419514:G43V;ENSP00000417900:G43V;ENSP00000420370:G43V;ENSP00000418895:G43V	ENSP00000346386:G43V	G	-	2	0	ESRRG	214917316	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.677000	0.84024	2.937000	0.99478	0.650000	0.86243	GGG		PASS	0.577	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		10	21	10	21	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232607249	232607249	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:232607249T>C	ENST00000366630.1	-	7	2469	c.2111A>G	c.(2110-2112)aAt>aGt	p.N704S	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.N704S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	704	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.N704S(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GACGATGTCATTTCCTATGTG	0.383																																						uc001hvg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(2110-2112)AAT>AGT		signal-induced proliferation-associated 1 like							129.0	133.0	132.0					1																	232607249		2119	4274	6393	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232607249T>C	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2111A>G	1.37:g.232607249T>C	ENSP00000355589:p.Asn704Ser						p.N704S	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			6	2269	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	704			Rap-GAP.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.2111A>G	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.962555	0.92791	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.96168	-3.93;-3.93	5.99	5.99	0.97316	Rap/ran-GAP (2);	0.098598	0.64402	D	0.000001	D	0.98820	0.9602	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99548	1.0965	10	0.87932	D	0	-37.9778	16.4892	0.84195	0.0:0.0:0.0:1.0	.	704	Q9P2F8	SI1L2_HUMAN	S	704	ENSP00000355589:N704S;ENSP00000262861:N704S	ENSP00000262861:N704S	N	-	2	0	SIPA1L2	230673872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.296000	0.77279	0.533000	0.62120	AAT		PASS	0.383	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		16	33	16	33	---	---	---	---
MAP10	54627	broad.mit.edu	37	1	232942333	232942333	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:232942333C>G	ENST00000418460.1	+	1	1691	c.1564C>G	c.(1564-1566)Caa>Gaa	p.Q522E		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	380					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)	p.Q522E(2)									AGCAACTAATCAAACATGTCA	0.378																																						uc001hvh.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1564-1566)CAA>GAA		hypothetical protein LOC54627							78.0	73.0	75.0					1																	232942333		1904	4123	6027	SO:0001583	missense	54627							g.chr1:232942333C>G	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.1564C>G	1.37:g.232942333C>G	ENSP00000403208:p.Gln522Glu						p.Q522E	NM_019090	NP_061963	Q9P2G4	K1383_HUMAN			1	1696	+		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)	380					A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.1564C>G	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767410	0.31320	.	.	ENSG00000212916	ENST00000418460	.	.	.	4.58	3.64	0.41730	.	1.360040	0.05464	N	0.551752	T	0.38374	0.1038	L	0.46741	1.465	0.09310	N	1	P	0.39759	0.687	B	0.39503	0.301	T	0.12889	-1.0530	9	0.07325	T	0.83	-2.0664	12.3347	0.55060	0.0:0.8214:0.1786:0.0	.	380	Q9P2G4	K1383_HUMAN	E	522	.	ENSP00000403208:Q522E	Q	+	1	0	KIAA1383	231008956	0.092000	0.21681	0.160000	0.22671	0.118000	0.20060	2.319000	0.43788	1.488000	0.48433	0.655000	0.94253	CAA		PASS	0.378	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		15	29	15	29	---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236727825	236727825	+	Silent	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:236727825G>C	ENST00000366582.3	-	32	4686	c.4572C>G	c.(4570-4572)ctC>ctG	p.L1524L	HEATR1_ENST00000366581.2_Silent_p.L1443L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1524					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.L1524L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGGAAGACAGGAGCTGAGACA	0.358																																						uc001hyd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(4570-4572)CTC>CTG		protein BAP28							91.0	92.0	92.0					1																	236727825		2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236727825G>C	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.4572C>G	1.37:g.236727825G>C						HEATR1_uc009xgh.1_Silent_p.L686L	p.L1524L	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		32	4697	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1524					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.4572C>G	CCDS31066.1																																																																																				PASS	0.358	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		12	32	12	32	---	---	---	---
ACTN2	88	broad.mit.edu	37	1	236917316	236917316	+	Missense_Mutation	SNP	C	C	T	rs570051117		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:236917316C>T	ENST00000366578.4	+	16	2075	c.1909C>T	c.(1909-1911)Cgt>Tgt	p.R637C	ACTN2_ENST00000542672.1_Missense_Mutation_p.R637C|ACTN2_ENST00000546208.1_Missense_Mutation_p.R131C	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	637					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.R637C(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGCTAACGAGCGTCTGAGGCG	0.602													c|||	1	0.000199681	0.0	0.0	5008	,	,		15957	0.001		0.0	False		,,,				2504	0.0					uc001hyf.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1909-1911)CGT>TGT		actinin, alpha 2							64.0	65.0	65.0					1																	236917316		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236917316C>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1909C>T	1.37:g.236917316C>T	ENSP00000355537:p.Arg637Cys					ACTN2_uc001hyg.2_Missense_Mutation_p.R429C|ACTN2_uc009xgi.1_Missense_Mutation_p.R637C|ACTN2_uc010pxu.1_Missense_Mutation_p.R326C|ACTN2_uc001hyh.2_Missense_Mutation_p.R325C	p.R637C	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		16	2113	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	637			Spectrin 4.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.1909C>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	c	23.5	4.427993	0.83667	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.46451	0.87;0.87;0.87	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.68723	0.3032	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.94;0.996;0.996	T	0.72981	-0.4126	10	0.87932	D	0	.	19.2097	0.93748	0.0:1.0:0.0:0.0	.	422;637;407;637	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	C	637;637;131;406	ENSP00000443495:R637C;ENSP00000355537:R637C;ENSP00000438384:R131C	ENSP00000355537:R637C	R	+	1	0	ACTN2	234983939	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.025000	0.57225	2.535000	0.85469	0.645000	0.84053	CGT		PASS	0.602	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		22	35	22	35	---	---	---	---
MTR	4548	broad.mit.edu	37	1	236973829	236973829	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:236973829C>G	ENST00000366577.5	+	5	830	c.436C>G	c.(436-438)Ctg>Gtg	p.L146V	MTR_ENST00000535889.1_Missense_Mutation_p.L146V|MTR_ENST00000418145.2_Missense_Mutation_p.L202V	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	146	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.L146V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GGCAGGGGCTCTGGGTCCGAC	0.413																																						uc001hyi.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(436-438)CTG>GTG		5-methyltetrahydrofolate-homocysteine	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						125.0	138.0	134.0					1																	236973829		2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:236973829C>G	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.436C>G	1.37:g.236973829C>G	ENSP00000355536:p.Leu146Val					MTR_uc010pxv.1_RNA|MTR_uc010pxw.1_5'UTR|MTR_uc010pxx.1_Missense_Mutation_p.L146V|MTR_uc010pxy.1_Missense_Mutation_p.L146V|MTR_uc009xgj.1_5'UTR	p.L146V	NM_000254	NP_000245	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	5	859	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	146			Hcy-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.436C>G	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645824	0.47258	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000418145;ENST00000535889	T;T;T	0.10192	2.9;2.9;2.9	5.65	2.63	0.31362	Homocysteine S-methyltransferase (4);	0.271361	0.34628	N	0.003812	T	0.06554	0.0168	N	0.16233	0.39	0.25154	N	0.990409	B;B;B	0.10296	0.003;0.001;0.003	B;B;B	0.19666	0.026;0.026;0.026	T	0.27434	-1.0074	10	0.62326	D	0.03	-11.1669	6.4796	0.22055	0.25:0.5856:0.0:0.1643	.	146;146;146	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	V	146;146;202;146	ENSP00000355536:L146V;ENSP00000402255:L202V;ENSP00000441845:L146V	ENSP00000355536:L146V	L	+	1	2	MTR	235040452	0.126000	0.22350	0.990000	0.47175	0.962000	0.63368	0.514000	0.22786	0.861000	0.35504	0.655000	0.94253	CTG		PASS	0.413	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		12	27	12	27	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240341241	240341241	+	Missense_Mutation	SNP	G	G	T	rs375865107		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:240341241G>T	ENST00000319653.9	+	3	2033	c.1803G>T	c.(1801-1803)tgG>tgT	p.W601C	RP11-567G24.3_ENST00000444308.1_RNA|RP11-567G24.3_ENST00000412311.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	601					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.W744C(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTTATACCTGGGCTGCAGTTA	0.388																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1801-1803)TGG>TGT		formin 2							74.0	73.0	73.0					1																	240341241		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240341241G>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1803G>T	1.37:g.240341241G>T	ENSP00000318884:p.Trp601Cys					FMN2_uc010pye.1_Missense_Mutation_p.W601C	p.W601C	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		3	2028	+	Ovarian(103;0.127)	all_cancers(173;0.013)	601					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.1803G>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032546	0.54790	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T;T	0.80304	-1.36;-1.36	5.52	5.52	0.82312	DEP domain (1);	0.000000	0.64402	D	0.000006	D	0.89532	0.6742	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88797	0.3282	10	0.52906	T	0.07	.	19.6361	0.95733	0.0:0.0:1.0:0.0	.	601	Q9NZ56	FMN2_HUMAN	C	34;601	ENSP00000409308:W34C;ENSP00000318884:W601C	ENSP00000318884:W601C	W	+	3	0	FMN2	238407864	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.680000	0.74518	2.878000	0.98634	0.650000	0.86243	TGG		PASS	0.388	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		14	21	14	21	---	---	---	---
KMO	8564	broad.mit.edu	37	1	241712164	241712164	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:241712164G>C	ENST00000366559.4	+	2	401	c.90G>C	c.(88-90)agG>agC	p.R30S	KMO_ENST00000366557.4_Missense_Mutation_p.R30S|KMO_ENST00000366558.3_Missense_Mutation_p.R30S|KMO_ENST00000484628.1_3'UTR	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)									p.R30S(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TTGCAAAGAGGAATTTCCAGA	0.403																																						uc009xgp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(88-90)AGG>AGC		kynurenine 3-monooxygenase							94.0	94.0	94.0					1																	241712164		2203	4300	6503	SO:0001583	missense	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241712164G>C	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.90G>C	1.37:g.241712164G>C	ENSP00000355517:p.Arg30Ser					KMO_uc001hyy.2_Missense_Mutation_p.R30S|KMO_uc009xgo.1_Missense_Mutation_p.R30S	p.R30S	NM_003679	NP_003670	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		2	155	+	Ovarian(103;0.103)|all_lung(81;0.23)		30						Missense_Mutation	SNP	ENST00000366559.4	37	c.90G>C	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826011	0.50739	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.51574	0.7;0.7;0.7	5.26	0.127	0.14727	Monooxygenase, FAD-binding (1);Aromatic-ring hydroxylase-like (1);	0.082287	0.85682	D	0.000000	T	0.67249	0.2873	M	0.92880	3.355	0.46798	D	0.9992	D;D;D	0.67145	0.996;0.992;0.994	P;P;P	0.61275	0.886;0.886;0.818	T	0.68648	-0.5353	10	0.87932	D	0	.	8.1799	0.31305	0.429:0.0:0.571:0.0	.	30;30;30	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	S	30	ENSP00000355517:R30S;ENSP00000355516:R30S;ENSP00000355515:R30S	ENSP00000355515:R30S	R	+	3	2	KMO	239778787	1.000000	0.71417	0.995000	0.50966	0.337000	0.28794	0.692000	0.25482	-0.056000	0.13221	-0.229000	0.12294	AGG		PASS	0.403	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		9	31	9	31	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525429	248525429	+	Silent	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:248525429C>T	ENST00000366475.1	+	1	547	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L183L(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGCTGGTTCCTGGGCTCAGT	0.542																																						uc001ieh.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(547-549)CTG>TTG		olfactory receptor, family 2, subfamily T,							262.0	228.0	239.0					1																	248525429		2203	4300	6503	SO:0001819	synonymous_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525429C>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.547C>T	1.37:g.248525429C>T							p.L183L	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	547	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		183			Helical; Name=4; (Potential).		Q6IEZ8	Silent	SNP	ENST00000366475.1	37	c.547C>T	CCDS31113.1																																																																																				PASS	0.542	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		27	77	27	77	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685389	248685389	+	Missense_Mutation	SNP	G	G	A	rs138151830	byFrequency	TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr1:248685389G>A	ENST00000343414.4	+	1	474	c.442G>A	c.(442-444)Gca>Aca	p.A148T		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A148T(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCCGGTGGAGCATGGCTCAG	0.577																																						uc001ien.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(442-444)GCA>ACA		olfactory receptor, family 2, subfamily G,							71.0	56.0	61.0					1																	248685389		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685389G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.442G>A	1.37:g.248685389G>A	ENSP00000341291:p.Ala148Thr						p.A148T	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	442	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	148			Helical; Name=4; (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.442G>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	11.10	1.538821	0.27475	.	.	ENSG00000188558	ENST00000343414	T	0.37584	1.19	3.46	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40908	U	0.000985	T	0.40719	0.1128	L	0.38733	1.17	0.09310	N	1	D	0.64830	0.994	D	0.66351	0.943	T	0.05666	-1.0871	10	0.49607	T	0.09	.	5.6872	0.17809	0.1153:0.378:0.5068:0.0	.	148	Q5TZ20	OR2G6_HUMAN	T	148	ENSP00000341291:A148T	ENSP00000341291:A148T	A	+	1	0	OR2G6	246752012	0.000000	0.05858	0.008000	0.14137	0.021000	0.10359	-0.504000	0.06375	1.747000	0.51819	0.400000	0.26472	GCA		PASS	0.577	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		9	23	9	23	---	---	---	---
ATP6V1C2	245973	broad.mit.edu	37	2	10912726	10912726	+	Silent	SNP	C	C	A	rs376892735		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:10912726C>A	ENST00000272238.4	+	8	737	c.628C>A	c.(628-630)Cga>Aga	p.R210R	RP11-791G15.2_ENST00000606907.1_lincRNA|ATP6V1C2_ENST00000381661.3_Silent_p.R210R	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	210					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)	p.R210R(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GGTGGTCCCTCGATCAACCAA	0.512																																					NSCLC(188;1042 2136 10807 16813 47705)	uc002ras.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(628-630)CGA>AGA		vacuolar H+ ATPase C2 isoform a							245.0	246.0	246.0					2																	10912726		2203	4300	6503	SO:0001819	synonymous_variant	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10912726C>A	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.628C>A	2.37:g.10912726C>A						ATP6V1C2_uc002rat.2_Silent_p.R210R	p.R210R	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	8	737	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		210					Q96EL8	Silent	SNP	ENST00000272238.4	37	c.628C>A	CCDS42653.1																																																																																				PASS	0.512	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		7	348	7	348	---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25462032	25462032	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:25462032C>T	ENST00000264709.3	-	20	2712	c.2375G>A	c.(2374-2376)cGc>cAc	p.R792H	DNMT3A_ENST00000380746.4_Missense_Mutation_p.R603H|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R569H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R792H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	792	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R603H(1)|p.R792H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGAAGTAGCGGGCCCTGTG	0.557			"""Mis, F, N, S"""		AML																																	uc002rgc.2				Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		2	Substitution - Missense(2)	p.R792H(1)	lung(2)	haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(2374-2376)CGC>CAC		DNA cytosine methyltransferase 3 alpha isoform							68.0	61.0	64.0					2																	25462032		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25462032C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2375G>A	2.37:g.25462032C>T	ENSP00000264709:p.Arg792His					DNMT3A_uc002rgd.2_Missense_Mutation_p.R792H|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.R603H	p.R792H	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			20	2632	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		792					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.2375G>A	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	35	5.533263	0.96460	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.99557	-6.16;-6.16;-6.16;-6.16	5.64	5.64	0.86602	.	0.046266	0.85682	D	0.000000	D	0.99339	0.9768	M	0.88181	2.935	0.80722	D	1	D;B	0.65815	0.995;0.097	P;B	0.46275	0.51;0.004	D	0.99712	1.1007	10	0.62326	D	0.03	-8.3274	17.206	0.86918	0.0:1.0:0.0:0.0	.	792;603	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	603;792;792;569	ENSP00000370122:R603H;ENSP00000324375:R792H;ENSP00000264709:R792H;ENSP00000384237:R569H	ENSP00000264709:R792H	R	-	2	0	DNMT3A	25315536	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.681000	0.91329	0.561000	0.74099	CGC		PASS	0.557	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		6	12	6	12	---	---	---	---
SLC4A1AP	22950	broad.mit.edu	37	2	27900188	27900188	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:27900188G>C	ENST00000326019.6	+	7	1815	c.1533G>C	c.(1531-1533)agG>agC	p.R511S		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	511						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R511S(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					ATGCTGAAAGGGAACTTTCTG	0.328																																						uc002rlk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1531-1533)AGG>AGC		solute carrier family 4 (anion exchanger),							84.0	89.0	87.0					2																	27900188		2203	4299	6502	SO:0001583	missense	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27900188G>C		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1533G>C	2.37:g.27900188G>C	ENSP00000323837:p.Arg511Ser						p.R511S	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN			7	1815	+	Acute lymphoblastic leukemia(172;0.155)		511			Potential.		A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	c.1533G>C	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	G	6.785	0.513775	0.12944	.	.	ENSG00000163798	ENST00000326019	T	0.29397	1.57	5.5	3.45	0.39498	.	0.567560	0.20351	N	0.094059	T	0.19406	0.0466	L	0.35414	1.06	0.32255	N	0.570851	B	0.09022	0.002	B	0.10450	0.005	T	0.10823	-1.0613	10	0.33141	T	0.24	-6.5215	4.3222	0.11022	0.2613:0.0:0.5492:0.1895	.	511	Q9BWU0	NADAP_HUMAN	S	511	ENSP00000323837:R511S	ENSP00000323837:R511S	R	+	3	2	SLC4A1AP	27753692	0.920000	0.31207	0.988000	0.46212	0.207000	0.24258	0.520000	0.22878	1.324000	0.45282	-0.266000	0.10368	AGG		PASS	0.328	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		4	23	4	23	---	---	---	---
YIPF4	84272	broad.mit.edu	37	2	32517245	32517245	+	Splice_Site	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:32517245G>T	ENST00000238831.4	+	3	479		c.e3-1			NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)		p.?(1)		kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					taaaattataGGGAAGAATTG	0.284																																						uc002rok.2																			1	Unknown(1)		lung(1)		0						c.e3-1		Yip1 domain family, member 4							47.0	46.0	46.0					2																	32517245		2202	4299	6501	SO:0001630	splice_region_variant	84272					endoplasmic reticulum|integral to membrane	protein binding	g.chr2:32517245G>T	AK098486	CCDS1781.1	2p22.3	2008-02-05			ENSG00000119820	ENSG00000119820		"""Yip1 domain family"""	28145	protein-coding gene	gene with protein product						12477932	Standard	NM_032312		Approved	MGC11061, FinGER4	uc002rok.3	Q9BSR8	OTTHUMG00000128452	ENST00000238831.4:c.234-1G>T	2.37:g.32517245G>T							p.L78_splice	NM_032312	NP_115688	Q9BSR8	YIPF4_HUMAN			3	501	+	Acute lymphoblastic leukemia(172;0.155)								Splice_Site	SNP	ENST00000238831.4	37	c.234_splice	CCDS1781.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655899	0.88056	.	.	ENSG00000119820	ENST00000238831	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0845	0.97795	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	YIPF4	32370749	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.240000	0.95396	2.821000	0.97095	0.650000	0.86243	.		PASS	0.284	YIPF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250250.3	NM_032312	Intron	4	9	4	9	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32738083	32738083	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:32738083C>T	ENST00000421745.2	+	54	10564	c.10430C>T	c.(10429-10431)cCt>cTt	p.P3477L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3477					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.P3477L(1)|p.P3449L(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TACATGTGTCCTAACTCCTCA	0.433																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(10429-10431)CCT>CTT		baculoviral IAP repeat-containing 6							200.0	169.0	179.0					2																	32738083		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32738083C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10430C>T	2.37:g.32738083C>T	ENSP00000393596:p.Pro3477Leu						p.P3477L	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			54	10564	+	Acute lymphoblastic leukemia(172;0.155)		3477					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.10430C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799452	0.90538	.	.	ENSG00000115760	ENST00000421745	T	0.74315	-0.83	5.29	5.29	0.74685	.	0.057796	0.64402	D	0.000001	T	0.78059	0.4224	L	0.44542	1.39	0.80722	D	1	P	0.52577	0.954	P	0.52109	0.69	T	0.80256	-0.1458	10	0.72032	D	0.01	.	19.3084	0.94173	0.0:1.0:0.0:0.0	.	3477	Q9NR09	BIRC6_HUMAN	L	3477	ENSP00000393596:P3477L	ENSP00000393596:P3477L	P	+	2	0	BIRC6	32591587	0.969000	0.33509	0.935000	0.37517	0.854000	0.48673	7.105000	0.77031	2.610000	0.88304	0.555000	0.69702	CCT		PASS	0.433	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		14	31	14	31	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32740349	32740349	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:32740349G>C	ENST00000421745.2	+	55	10995	c.10861G>C	c.(10861-10863)Gaa>Caa	p.E3621Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3621					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.E3621Q(1)|p.E3593Q(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCAATCTCCTGAAGCTATTAA	0.408																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(10861-10863)GAA>CAA		baculoviral IAP repeat-containing 6							107.0	106.0	106.0					2																	32740349		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32740349G>C	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10861G>C	2.37:g.32740349G>C	ENSP00000393596:p.Glu3621Gln						p.E3621Q	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			55	10995	+	Acute lymphoblastic leukemia(172;0.155)		3621					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.10861G>C	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602473	0.28534	.	.	ENSG00000115760	ENST00000421745	T	0.74106	-0.81	5.44	5.44	0.79542	.	0.128654	0.53938	D	0.000043	T	0.64864	0.2637	L	0.31294	0.92	0.45946	D	0.998779	B	0.14438	0.01	B	0.08055	0.003	T	0.59005	-0.7535	10	0.17369	T	0.5	.	19.2679	0.93997	0.0:0.0:1.0:0.0	.	3621	Q9NR09	BIRC6_HUMAN	Q	3621	ENSP00000393596:E3621Q	ENSP00000393596:E3621Q	E	+	1	0	BIRC6	32593853	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.662000	0.83803	2.563000	0.86464	0.585000	0.79938	GAA		PASS	0.408	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		11	40	11	40	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32774431	32774431	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:32774431C>G	ENST00000421745.2	+	65	13161	c.13027C>G	c.(13027-13029)Cag>Gag	p.Q4343E		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4343					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.Q4315E(1)|p.Q4343E(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGGAGAAGCTCAGTCATCTCA	0.418																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(13027-13029)CAG>GAG		baculoviral IAP repeat-containing 6							153.0	137.0	142.0					2																	32774431		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32774431C>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13027C>G	2.37:g.32774431C>G	ENSP00000393596:p.Gln4343Glu						p.Q4343E	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			65	13161	+	Acute lymphoblastic leukemia(172;0.155)		4343					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.13027C>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	0.135	-1.108871	0.01813	.	.	ENSG00000115760	ENST00000421745	T	0.73152	-0.72	5.67	5.67	0.87782	.	0.343430	0.32028	N	0.006698	T	0.51092	0.1654	N	0.11255	0.115	0.35814	D	0.824117	B	0.14438	0.01	B	0.06405	0.002	T	0.53732	-0.8397	10	0.02654	T	1	.	19.7806	0.96414	0.0:1.0:0.0:0.0	.	4343	Q9NR09	BIRC6_HUMAN	E	4343	ENSP00000393596:Q4343E	ENSP00000393596:Q4343E	Q	+	1	0	BIRC6	32627935	0.828000	0.29307	0.013000	0.15412	0.012000	0.07955	2.988000	0.49386	2.669000	0.90835	0.650000	0.86243	CAG		PASS	0.418	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		3	41	3	41	---	---	---	---
ABCG8	64241	broad.mit.edu	37	2	44099383	44099383	+	Silent	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:44099383C>T	ENST00000272286.2	+	8	1239	c.1149C>T	c.(1147-1149)acC>acT	p.T383T		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	383					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)	p.T383T(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CACTAGACACCAACTGCCTCC	0.592																																						uc002rtq.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(1147-1149)ACC>ACT		ATP-binding cassette sub-family G member 8							67.0	61.0	63.0					2																	44099383		2203	4300	6503	SO:0001819	synonymous_variant	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44099383C>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1149C>T	2.37:g.44099383C>T						ABCG8_uc010yoa.1_Silent_p.T382T	p.T383T	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			8	1239	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	383			Cytoplasmic (Potential).		Q53QN8	Silent	SNP	ENST00000272286.2	37	c.1149C>T	CCDS1815.1																																																																																				PASS	0.592	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		6	21	6	21	---	---	---	---
SIX3	6496	broad.mit.edu	37	2	45169910	45169910	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:45169910G>C	ENST00000260653.3	+	1	1009	c.667G>C	c.(667-669)Gag>Cag	p.E223Q	SIX3-AS1_ENST00000456467.1_RNA|SIX3-AS1_ENST00000419364.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	223					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)	p.E223Q(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCTGTTGCGGGAGTGGTACCT	0.607																																						uc002run.1																			1	Substitution - Missense(1)		lung(1)		0						c.(667-669)GAG>CAG		SIX homeobox 3							31.0	34.0	33.0					2																	45169910		2180	4246	6426	SO:0001583	missense	6496				visual perception	nucleus		g.chr2:45169910G>C	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.667G>C	2.37:g.45169910G>C	ENSP00000260653:p.Glu223Gln						p.E223Q	NM_005413	NP_005404	O95343	SIX3_HUMAN			1	874	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	223			Homeobox.		D6W5A5|Q53T42	Missense_Mutation	SNP	ENST00000260653.3	37	c.667G>C	CCDS1821.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837186	0.71373	.	.	ENSG00000138083	ENST00000260653	D	0.96522	-4.04	3.41	3.41	0.39046	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	U	0.000001	D	0.95822	0.8640	L	0.37466	1.105	0.80722	D	1	P	0.51057	0.941	P	0.57548	0.823	D	0.95857	0.8880	10	0.54805	T	0.06	.	14.5902	0.68359	0.0:0.0:1.0:0.0	.	223	O95343	SIX3_HUMAN	Q	223	ENSP00000260653:E223Q	ENSP00000260653:E223Q	E	+	1	0	SIX3	45023414	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.274000	0.95731	1.729000	0.51567	0.484000	0.47621	GAG		PASS	0.607	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413		12	21	12	21	---	---	---	---
EPCAM	4072	broad.mit.edu	37	2	47612328	47612328	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:47612328G>T	ENST00000263735.4	+	8	1240	c.882G>T	c.(880-882)atG>atT	p.M294I	EPCAM_ENST00000405271.1_Missense_Mutation_p.M322I	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	294					negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|stem cell differentiation (GO:0048863)|ureteric bud development (GO:0001657)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein complex binding (GO:0032403)	p.0?(2)|p.M294I(1)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						AGAAGAGAATGGCAAAGTATG	0.353																																						uc002rvx.2																			4	Whole gene deletion(2)|Substitution - Missense(1)|Unknown(1)		haematopoietic_and_lymphoid_tissue(3)|lung(1)	skin(1)	1						c.(880-882)ATG>ATT		epithelial cell adhesion molecule precursor							180.0	187.0	185.0					2																	47612328		2203	4300	6503	SO:0001583	missense	4072	Lynch_syndrome			positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	g.chr2:47612328G>T	M33011	CCDS1833.1	2p21	2014-09-17	2008-12-16	2008-12-16	ENSG00000119888	ENSG00000119888		"""CD molecules"""	11529	protein-coding gene	gene with protein product		185535	"""antigen identified by monoclonal antibody AUA1"", ""tumor-associated calcium signal transducer 1"""	M4S1, MIC18, TACSTD1		8382772, 11306819	Standard	NM_002354		Approved	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA	uc002rvx.3	P16422	OTTHUMG00000128853	ENST00000263735.4:c.882G>T	2.37:g.47612328G>T	ENSP00000263735:p.Met294Ile					EPCAM_uc002rvw.2_Missense_Mutation_p.M322I	p.M294I	NM_002354	NP_002345	P16422	EPCAM_HUMAN			8	1240	+			294			Cytoplasmic (Potential).		P18180|Q6FG26|Q6FG49|Q96C47|Q9UCD0	Missense_Mutation	SNP	ENST00000263735.4	37	c.882G>T	CCDS1833.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687608	0.29962	.	.	ENSG00000119888	ENST00000405271;ENST00000263735	T;T	0.71103	-0.54;-0.53	5.51	-2.02	0.07388	.	0.981883	0.08360	N	0.957837	T	0.51770	0.1694	L	0.36672	1.1	0.09310	N	1	B;B	0.17038	0.011;0.02	B;B	0.16289	0.01;0.015	T	0.39761	-0.9598	10	0.39692	T	0.17	-0.2285	0.1524	0.00094	0.3366:0.1518:0.2044:0.3072	.	294;322	P16422;B5MCA4	EPCAM_HUMAN;.	I	322;294	ENSP00000385476:M322I;ENSP00000263735:M294I	ENSP00000263735:M294I	M	+	3	0	EPCAM	47465832	0.000000	0.05858	0.000000	0.03702	0.989000	0.77384	-0.068000	0.11561	-0.010000	0.14271	0.591000	0.81541	ATG		PASS	0.353	EPCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250792.2			8	167	8	167	---	---	---	---
MSH2	4436	broad.mit.edu	37	2	47637275	47637275	+	Missense_Mutation	SNP	G	G	T	rs587781795		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:47637275G>T	ENST00000233146.2	+	3	632	c.409G>T	c.(409-411)Ggt>Tgt	p.G137C	MSH2_ENST00000406134.1_Missense_Mutation_p.G137C|MSH2_ENST00000543555.1_Missense_Mutation_p.G71C	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	137					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.G137C(2)|p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			cattctctttggtaacaatga	0.358			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc002rvy.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	D|Mis|N|F|S	mutS homolog 2 (E. coli)			E		colorectal|endometrial|ovarian	colorectal|endometrial|ovarian		5	Substitution - Missense(2)|Whole gene deletion(2)|Unknown(1)		haematopoietic_and_lymphoid_tissue(3)|lung(2)	large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55						c.(409-411)GGT>TGT	MMR	mutS homolog 2							267.0	263.0	264.0					2																	47637275		2203	4300	6503	SO:0001583	missense	4436	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47637275G>T	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.409G>T	2.37:g.47637275G>T	ENSP00000233146:p.Gly137Cys					MSH2_uc010yoh.1_Missense_Mutation_p.G71C|MSH2_uc002rvz.2_Missense_Mutation_p.G137C|MSH2_uc010fbg.2_5'UTR|MSH2_uc010fbf.1_Intron	p.G137C	NM_000251	NP_000242	P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		3	477	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	137					B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	c.409G>T	CCDS1834.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.46|19.46	3.832070|3.832070	0.71258|0.71258	.|.	.|.	ENSG00000095002|ENSG00000095002	ENST00000233146;ENST00000454849;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000448533;ENST00000394792|ENST00000413880	D;D;D;D|.	0.92099|.	-2.96;-2.97;-2.8;-2.9|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.102450|.	0.64402|.	D|.	0.000002|.	T|T	0.75620|0.75620	0.3874|0.3874	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;P|.	0.54397|.	0.966;0.846|.	P;P|.	0.53224|.	0.721;0.56|.	T|T	0.70757|0.70757	-0.4785|-0.4785	10|6	0.87932|0.29301	D|T	0|0.29	-8.5557|-8.5557	19.9145|19.9145	0.97053|0.97053	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	137;137|.	E9PHA6;P43246|.	.;MSH2_HUMAN|.	C|F	137;71;71;137;137;137;137;137;137|22	ENSP00000233146:G137C;ENSP00000411482:G71C;ENSP00000442697:G71C;ENSP00000384199:G137C|.	ENSP00000233146:G137C|ENSP00000402969:L22F	G|L	+|+	1|3	0|2	MSH2|MSH2	47490779|47490779	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.227000|0.227000	0.25037|0.25037	7.903000|7.903000	0.87398|0.87398	2.707000|2.707000	0.92482|0.92482	0.603000|0.603000	0.83216|0.83216	GGT|TTG		PASS	0.358	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			9	247	9	247	---	---	---	---
CCDC88A	55704	broad.mit.edu	37	2	55529038	55529038	+	Missense_Mutation	SNP	A	A	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:55529038A>T	ENST00000436346.1	-	27	5483	c.4642T>A	c.(4642-4644)Ttc>Atc	p.F1548I	CCDC88A_ENST00000336838.6_Missense_Mutation_p.F1547I|CCDC88A_ENST00000413716.2_Missense_Mutation_p.F1547I|CCDC88A_ENST00000422883.2_Intron|CCDC88A_ENST00000263630.8_Missense_Mutation_p.F1520I	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1548					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.F1547I(1)|p.F1520I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTGGATCTGAAGCCTGCAGAA	0.393																																						uc002ryv.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(4639-4641)TTC>ATC		coiled-coil domain containing 88A isoform 1							100.0	102.0	102.0					2																	55529038		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55529038A>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.4642T>A	2.37:g.55529038A>T	ENSP00000410608:p.Phe1548Ile					CCDC88A_uc010yoz.1_Missense_Mutation_p.F1520I|CCDC88A_uc010ypa.1_Missense_Mutation_p.F1547I|CCDC88A_uc010fbw.2_Intron|CCDC88A_uc002ryu.2_Missense_Mutation_p.F802I|CCDC88A_uc002rys.2_Missense_Mutation_p.F505I|CCDC88A_uc002ryw.2_Missense_Mutation_p.F831I|CCDC88A_uc010fby.1_Missense_Mutation_p.F399I	p.F1547I	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			27	5481	-			1548					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.4639T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.529|7.529	0.658231|0.658231	0.14645|0.14645	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576|ENST00000456975	T;T;T;T;T;T|.	0.43688|.	2.57;2.71;2.8;0.94;2.58;1.5|.	5.41|5.41	2.9|2.9	0.33743|0.33743	.|.	0.130027|.	0.34853|.	N|.	0.003630|.	T|T	0.33294|0.33294	0.0858|0.0858	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B|.	0.25486|.	0.025;0.082;0.062;0.025;0.127;0.082|.	B;B;B;B;B;B|.	0.23419|.	0.027;0.035;0.022;0.021;0.046;0.035|.	T|T	0.04621|0.04621	-1.0938|-1.0938	10|5	0.21540|.	T|.	0.41|.	-4.9866|-4.9866	10.7443|10.7443	0.46170|0.46170	0.746:0.0:0.0:0.254|0.746:0.0:0.0:0.254	.|.	1547;1520;1465;1548;1547;1519|.	B7ZM78;Q3V6T2-2;D6W5D1;Q3V6T2;Q3V6T2-3;Q3V6T2-4|.	.;.;.;GRDN_HUMAN;.;.|.	I|H	1547;1520;1548;565;1547;723|500	ENSP00000338728:F1547I;ENSP00000263630:F1520I;ENSP00000410608:F1548I;ENSP00000390012:F565I;ENSP00000404431:F1547I;ENSP00000405080:F723I|.	ENSP00000263630:F1520I|.	F|L	-|-	1|2	0|0	CCDC88A|CCDC88A	55382542|55382542	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.172000|2.172000	0.42463|0.42463	0.383000|0.383000	0.24910|0.24910	0.377000|0.377000	0.23210|0.23210	TTC|CTT		PASS	0.393	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		24	46	24	46	---	---	---	---
CFAP36	112942	broad.mit.edu	37	2	55771501	55771501	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:55771501T>C	ENST00000349456.4	+	9	1071	c.923T>C	c.(922-924)gTa>gCa	p.V308A	CCDC104_ENST00000407816.3_Missense_Mutation_p.V279A|CCDC104_ENST00000339012.3_Missense_Mutation_p.V333A			Q96G28	CFA36_HUMAN		308								p.V308A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACTGGGGAGGTAGAGGTATGG	0.378																																						uc002ryy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(922-924)GTA>GCA		coiled-coil domain containing 104							63.0	64.0	64.0					2																	55771501		2203	4300	6503	SO:0001583	missense	112942							g.chr2:55771501T>C																												ENST00000349456.4:c.923T>C	2.37:g.55771501T>C	ENSP00000295117:p.Val308Ala					CCDC104_uc002ryx.2_Missense_Mutation_p.V333A	p.V308A	NM_080667	NP_542398	Q96G28	CC104_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		9	1121	+			308					Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	c.923T>C	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	t	0.305	-0.971213	0.02232	.	.	ENSG00000163001	ENST00000339012;ENST00000349456;ENST00000407816	T;T;T	0.17370	2.28;2.29;2.28	5.69	-8.05	0.01106	.	1.347610	0.04925	N	0.455760	T	0.07098	0.0180	N	0.19112	0.55	0.38550	D	0.949443	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.36138	-0.9760	10	0.06236	T	0.91	.	5.1424	0.14965	0.1902:0.4952:0.0973:0.2173	.	308;333	Q96G28;Q96G28-2	CC104_HUMAN;.	A	333;308;279	ENSP00000342699:V333A;ENSP00000295117:V308A;ENSP00000385376:V279A	ENSP00000342699:V333A	V	+	2	0	CCDC104	55625005	0.001000	0.12720	0.003000	0.11579	0.465000	0.32709	-0.641000	0.05434	-1.953000	0.01026	-2.412000	0.00220	GTA		PASS	0.378	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			7	19	7	19	---	---	---	---
WDPCP	51057	broad.mit.edu	37	2	63631216	63631216	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:63631216T>C	ENST00000272321.7	-	10	1929	c.1402A>G	c.(1402-1404)Aga>Gga	p.R468G	WDPCP_ENST00000409199.1_Missense_Mutation_p.R276G|WDPCP_ENST00000409562.3_Missense_Mutation_p.R468G|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409120.1_Missense_Mutation_p.R276G|WDPCP_ENST00000398544.3_Missense_Mutation_p.R309G	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	468					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.R468G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						AAAGGTCCTCTTTCAAACCTG	0.388																																						uc002sch.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1402-1404)AGA>GGA		hypothetical protein LOC51057 isoform 2							91.0	85.0	87.0					2																	63631216		1870	4097	5967	SO:0001583	missense	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63631216T>C		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1402A>G	2.37:g.63631216T>C	ENSP00000272321:p.Arg468Gly					C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.R309G|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.R276G|C2orf86_uc002sci.1_Missense_Mutation_p.R444G|C2orf86_uc010fcr.1_Missense_Mutation_p.R358G	p.R468G	NM_015910	NP_056994	O95876	FRITZ_HUMAN			10	1848	-			468					Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	c.1402A>G	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	T	11.09	1.537633	0.27475	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.52	3.01	0.34805	.	0.404312	0.28219	N	0.016159	T	0.29556	0.0737	L	0.38175	1.15	0.24318	N	0.995053	B;B;B;B	0.10296	0.003;0.001;0.002;0.002	B;B;B;B	0.14023	0.01;0.003;0.004;0.004	T	0.17592	-1.0364	10	0.29301	T	0.29	-1.7137	7.9352	0.29925	0.1283:0.0:0.2679:0.6037	.	276;468;468;309	E9PFG9;O95876-2;O95876;O95876-3	.;.;FRITZ_HUMAN;.	G	468;276;276;309;468	ENSP00000272321:R468G;ENSP00000386592:R276G;ENSP00000386769:R276G;ENSP00000381552:R309G;ENSP00000387222:R468G	ENSP00000272321:R468G	R	-	1	2	WDPCP	63484720	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.811000	0.38942	0.409000	0.25649	0.482000	0.46254	AGA		PASS	0.388	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		12	32	12	32	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73717530	73717530	+	Nonsense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:73717530C>G	ENST00000264448.6	+	10	8552	c.8441C>G	c.(8440-8442)tCa>tGa	p.S2814*	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Nonsense_Mutation_p.S2772*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2814					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.S2814*(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTAGAAAGATCAGATTTTACA	0.378																																						uc002sje.1																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(8446-8448)TCA>TGA		Alstrom syndrome 1							56.0	53.0	54.0					2																	73717530		1820	4069	5889	SO:0001587	stop_gained	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717530C>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8441C>G	2.37:g.73717530C>G	ENSP00000264448:p.Ser2814*					ALMS1_uc002sjf.1_Nonsense_Mutation_p.S2772*|ALMS1_uc002sjg.2_Nonsense_Mutation_p.S2202*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.S2202*	p.S2816*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			12	8558	+			2814					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Nonsense_Mutation	SNP	ENST00000264448.6	37	c.8447C>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	49	15.228650	0.99827	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	.	.	.	4.29	2.46	0.29980	.	1.094130	0.07146	N	0.848196	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	7.1084	0.25376	0.0:0.7935:0.0:0.2065	.	.	.	.	X	2772;2814	.	ENSP00000264448:S2814X	S	+	2	0	ALMS1	73571038	0.898000	0.30612	0.977000	0.42913	0.816000	0.46133	1.155000	0.31700	0.717000	0.32145	-0.142000	0.14014	TCA		PASS	0.378	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		7	40	7	40	---	---	---	---
MFSD9	84804	broad.mit.edu	37	2	103353166	103353166	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:103353166G>T	ENST00000258436.5	-	1	147	c.104C>A	c.(103-105)gCc>gAc	p.A35D	TMEM182_ENST00000409173.1_5'Flank|TMEM182_ENST00000409528.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	35					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A35D(1)		breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						ACCGGAGTCGGCAGCCTCCGC	0.657																																						uc002tcb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(103-105)GCC>GAC		major facilitator superfamily domain containing							33.0	39.0	37.0					2																	103353166		2203	4299	6502	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103353166G>T		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.104C>A	2.37:g.103353166G>T	ENSP00000258436:p.Ala35Asp					TMEM182_uc002tcc.3_5'Flank|TMEM182_uc002tcd.3_5'Flank|MFSD9_uc010fja.2_RNA	p.A35D	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN			1	172	-			35					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.104C>A	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	G	6.338	0.430377	0.12045	.	.	ENSG00000135953	ENST00000258436	T	0.64991	-0.13	3.23	1.24	0.21308	Major facilitator superfamily domain, general substrate transporter (1);	0.763877	0.11107	N	0.599028	T	0.38401	0.1039	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.20273	-1.0280	10	0.21014	T	0.42	-21.8402	6.639	0.22899	0.0:0.1993:0.5951:0.2055	.	35	Q8NBP5	MFSD9_HUMAN	D	35	ENSP00000258436:A35D	ENSP00000258436:A35D	A	-	2	0	MFSD9	102719598	0.009000	0.17119	0.000000	0.03702	0.082000	0.17680	0.586000	0.23894	0.157000	0.19338	0.555000	0.69702	GCC		PASS	0.657	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		7	12	7	12	---	---	---	---
NPHP1	4867	broad.mit.edu	37	2	110926116	110926116	+	Silent	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:110926116G>T	ENST00000393272.3	-	6	634	c.537C>A	c.(535-537)ctC>ctA	p.L179L	NPHP1_ENST00000316534.4_Silent_p.L179L|NPHP1_ENST00000355301.4_Silent_p.L117L|NPHP1_ENST00000445609.2_Silent_p.L179L|NPHP1_ENST00000417665.1_Silent_p.L179L	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	179	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.L179L(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CAATTACAAGGAGAATTTCCC	0.338																																						uc002tfn.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(535-537)CTC>CTA		nephrocystin 1 isoform 2							123.0	126.0	125.0					2																	110926116		2203	4300	6503	SO:0001819	synonymous_variant	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110926116G>T	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.537C>A	2.37:g.110926116G>T						NPHP1_uc002tfm.3_Silent_p.L179L|NPHP1_uc002tfl.3_Silent_p.L179L|NPHP1_uc002tfo.3_Silent_p.L117L|NPHP1_uc010ywx.1_Silent_p.L179L|NPHP1_uc010fjv.1_Silent_p.L179L	p.L179L	NM_207181	NP_997064	O15259	NPHP1_HUMAN			6	631	-			179			SH3.		O14837	Silent	SNP	ENST00000393272.3	37	c.537C>A	CCDS46385.1																																																																																				PASS	0.338	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		5	29	5	29	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133618158	133618158	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:133618158C>G	ENST00000409261.1	-	11	1087	c.714G>C	c.(712-714)ttG>ttC	p.L238F	NCKAP5_ENST00000405974.3_Missense_Mutation_p.L238F|NCKAP5_ENST00000409213.1_Missense_Mutation_p.L238F|NCKAP5_ENST00000317721.6_Missense_Mutation_p.L238F	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	238								p.L77F(1)|p.L238F(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTCTTGTTTTCAACTTCACAC	0.393																																						uc002ttp.2																			2	Substitution - Missense(2)		lung(2)		0						c.(712-714)TTG>TTC		Nck-associated protein 5 isoform 1							153.0	141.0	145.0					2																	133618158		1917	4118	6035	SO:0001583	missense	344148						protein binding	g.chr2:133618158C>G	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.714G>C	2.37:g.133618158C>G	ENSP00000387128:p.Leu238Phe					NCKAP5_uc002ttq.2_Missense_Mutation_p.L238F	p.L238F	NM_207363	NP_997246	O14513	NCKP5_HUMAN			11	1088	-			238			Potential.		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.714G>C	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640322	0.87859	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.70399	1.44;-0.48;1.44;-0.48	5.78	5.78	0.91487	.	0.000000	0.25543	U	0.029942	T	0.82130	0.4970	L	0.55481	1.735	0.41098	D	0.985642	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.83170	-0.0094	10	0.87932	D	0	.	18.1945	0.89817	0.0:1.0:0.0:0.0	.	238;238	O14513-2;O14513	.;NCKP5_HUMAN	F	238	ENSP00000387128:L238F;ENSP00000386952:L238F;ENSP00000380603:L238F;ENSP00000385692:L238F	ENSP00000380603:L238F	L	-	3	2	NCKAP5	133334628	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.562000	0.45914	2.724000	0.93272	0.563000	0.77884	TTG		PASS	0.393	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		4	4	4	4	---	---	---	---
STAM2	10254	broad.mit.edu	37	2	152977291	152977291	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:152977291G>C	ENST00000263904.4	-	14	1724	c.1375C>G	c.(1375-1377)Cct>Gct	p.P459A		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	459					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P459A(1)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		ATATAAGTAGGATTGGAAACA	0.353																																						uc002tyc.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1375-1377)CCT>GCT		signal transducing adaptor molecule 2							136.0	126.0	129.0					2																	152977291		2203	4300	6503	SO:0001583	missense	10254				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	g.chr2:152977291G>C	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.1375C>G	2.37:g.152977291G>C	ENSP00000263904:p.Pro459Ala						p.P459A	NM_005843	NP_005834	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	14	1725	-			459					A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	ENST00000263904.4	37	c.1375C>G	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618367	0.28801	.	.	ENSG00000115145	ENST00000263904	T	0.19394	2.15	5.97	4.17	0.49024	.	0.509712	0.23148	N	0.051399	T	0.11537	0.0281	N	0.14661	0.345	0.28479	N	0.915035	B	0.11235	0.004	B	0.13407	0.009	T	0.16837	-1.0389	10	0.23891	T	0.37	-8.7804	9.1134	0.36741	0.2196:0.0:0.7804:0.0	.	459	O75886	STAM2_HUMAN	A	459	ENSP00000263904:P459A	ENSP00000263904:P459A	P	-	1	0	STAM2	152685537	0.994000	0.37717	0.152000	0.22495	0.979000	0.70002	1.243000	0.32767	1.529000	0.49120	0.655000	0.94253	CCT		PASS	0.353	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843		3	30	3	30	---	---	---	---
KCNJ3	3760	broad.mit.edu	37	2	155555379	155555379	+	Missense_Mutation	SNP	A	A	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:155555379A>T	ENST00000295101.2	+	1	569	c.92A>T	c.(91-93)cAg>cTg	p.Q31L	AC061961.2_ENST00000443901.1_RNA|KCNJ3_ENST00000544049.1_Missense_Mutation_p.Q31L	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	31					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.Q31L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GGGCCAGGCCAGGACCCTCAG	0.597																																						uc002tyv.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(91-93)CAG>CTG		potassium inwardly-rectifying channel J3	Halothane(DB01159)						37.0	43.0	41.0					2																	155555379		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155555379A>T	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.92A>T	2.37:g.155555379A>T	ENSP00000295101:p.Gln31Leu					KCNJ3_uc010zce.1_Missense_Mutation_p.Q31L	p.Q31L	NM_002239	NP_002230	P48549	IRK3_HUMAN			1	287	+			31			Cytoplasmic (By similarity).		B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.92A>T	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	A	11.82	1.751376	0.31046	.	.	ENSG00000162989	ENST00000295101;ENST00000544049	D;D	0.91464	-2.35;-2.85	4.6	1.96	0.26148	.	0.371753	0.18529	U	0.138546	T	0.79281	0.4419	N	0.14661	0.345	0.32978	D	0.523233	B;B	0.12013	0.0;0.005	B;B	0.04013	0.0;0.001	T	0.72814	-0.4179	10	0.25106	T	0.35	.	8.1879	0.31350	0.5951:0.4049:0.0:0.0	.	31;31	B4DEW7;P48549	.;IRK3_HUMAN	L	31	ENSP00000295101:Q31L;ENSP00000438410:Q31L	ENSP00000295101:Q31L	Q	+	2	0	KCNJ3	155263625	0.788000	0.28762	1.000000	0.80357	0.961000	0.63080	-0.265000	0.08644	0.602000	0.29896	0.454000	0.30748	CAG		PASS	0.597	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		5	21	5	21	---	---	---	---
ACVR1	90	broad.mit.edu	37	2	158622653	158622653	+	Silent	SNP	A	A	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:158622653A>G	ENST00000263640.3	-	8	1275	c.846T>C	c.(844-846)atT>atC	p.I282I	ACVR1_ENST00000410057.2_Silent_p.I282I|ACVR1_ENST00000409283.2_Silent_p.I282I|ACVR1_ENST00000434821.1_Silent_p.I282I	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.I282I(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	GATAATGTGTAATTAACCACA	0.408																																						uc002tzm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(844-846)ATT>ATC		activin A receptor, type I precursor	Adenosine triphosphate(DB00171)						89.0	80.0	83.0					2																	158622653		2203	4300	6503	SO:0001819	synonymous_variant	90				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding	g.chr2:158622653A>G		CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.846T>C	2.37:g.158622653A>G						ACVR1_uc002tzn.3_Silent_p.I282I|ACVR1_uc010fog.2_Silent_p.I282I	p.I282I	NM_001111067	NP_001104537	Q04771	ACVR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.104)	9	1185	-			282			Cytoplasmic (Potential).|Protein kinase.			Silent	SNP	ENST00000263640.3	37	c.846T>C	CCDS2206.1																																																																																				PASS	0.408	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254927.1	NM_001105		10	38	10	38	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171073828	171073828	+	Splice_Site	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:171073828G>T	ENST00000408978.4	+	6	669		c.e6-1		MYO3B_ENST00000602629.1_Splice_Site|MYO3B_ENST00000334231.6_Splice_Site|MYO3B_ENST00000409044.3_Splice_Site	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB						peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.?(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTTCCTTATAGGTGTTTCAGC	0.453																																						uc002ufy.2																			2	Unknown(2)		lung(2)	lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.e6-1		myosin IIIB isoform 2							243.0	235.0	237.0					2																	171073828		1907	4113	6020	SO:0001630	splice_region_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171073828G>T		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.527-1G>T	2.37:g.171073828G>T						MYO3B_uc002ufv.2_Splice_Site_p.G163_splice|MYO3B_uc010fqb.1_Splice_Site_p.G163_splice|MYO3B_uc002ufz.2_Splice_Site_p.G176_splice|MYO3B_uc002ufw.2_Splice_Site|MYO3B_uc002ufx.2_Splice_Site|MYO3B_uc002uga.2_Splice_Site_p.G163_splice	p.G176_splice	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			6	670	+								B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Splice_Site	SNP	ENST00000408978.4	37	c.527_splice	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388848	0.61956	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231;ENST00000442690	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO3B	170782074	1.000000	0.71417	0.997000	0.53966	0.393000	0.30537	9.346000	0.97056	2.882000	0.98803	0.655000	0.94253	.		PASS	0.453	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		Intron	7	133	7	133	---	---	---	---
DIRC1	116093	broad.mit.edu	37	2	189599468	189599468	+	Silent	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:189599468G>A	ENST00000308100.4	-	2	450	c.180C>T	c.(178-180)atC>atT	p.I60I	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	60								p.I60I(1)		large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			TGTCTGAGATGATGGAAGGCT	0.428																																						uc002uqi.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(178-180)ATC>ATT		disrupted in renal carcinoma 1							165.0	157.0	160.0					2																	189599468		2203	4300	6503	SO:0001819	synonymous_variant	116093							g.chr2:189599468G>A	AY039011	CCDS2296.1	2q33	2008-05-22			ENSG00000174325	ENSG00000174325			15760	protein-coding gene	gene with protein product		606423				11587072	Standard	NM_052952		Approved		uc002uqi.1	Q969H9	OTTHUMG00000132646	ENST00000308100.4:c.180C>T	2.37:g.189599468G>A							p.I60I	NM_052952	NP_443184	Q969H9	DIRC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)		2	451	-			60					Q08AK1	Silent	SNP	ENST00000308100.4	37	c.180C>T	CCDS2296.1																																																																																				PASS	0.428	DIRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255897.2	NM_052952		7	32	7	32	---	---	---	---
RAPH1	65059	broad.mit.edu	37	2	204305807	204305807	+	Silent	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:204305807C>A	ENST00000319170.5	-	14	2405	c.2106G>T	c.(2104-2106)ctG>ctT	p.L702L	RAPH1_ENST00000374493.3_Silent_p.L754L|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	702					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.L702L(1)		breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGGGGGTACCAGGATCTGAG	0.602																																						uc002vad.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						c.(2104-2106)CTG>CTT		Ras association and pleckstrin homology domains							46.0	47.0	47.0					2																	204305807		2203	4299	6502	SO:0001819	synonymous_variant	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204305807C>A	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.2106G>T	2.37:g.204305807C>A							p.L702L	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN			14	2331	-			702					Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	c.2106G>T	CCDS2359.1																																																																																				PASS	0.602	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		5	30	5	30	---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210559534	210559534	+	Silent	SNP	A	A	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:210559534A>G	ENST00000360351.4	+	7	3146	c.2640A>G	c.(2638-2640)ccA>ccG	p.P880P	MAP2_ENST00000447185.1_Silent_p.P876P|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	880					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.P880P(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TCCCATTGCCATCACCTGTTC	0.458																																					Pancreas(27;423 979 28787 29963)	uc002vde.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(2638-2640)CCA>CCG		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						73.0	65.0	68.0					2																	210559534		2203	4300	6503	SO:0001819	synonymous_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559534A>G		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2640A>G	2.37:g.210559534A>G						MAP2_uc002vdc.1_Silent_p.P880P|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.P876P	p.P880P	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	2888	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	880					Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.2640A>G	CCDS2384.1																																																																																				PASS	0.458	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		5	21	5	21	---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218682908	218682908	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:218682908G>T	ENST00000171887.4	-	24	4287	c.3835C>A	c.(3835-3837)Cac>Aac	p.H1279N	TNS1_ENST00000430930.1_Missense_Mutation_p.H1258N|TNS1_ENST00000419504.1_Missense_Mutation_p.H1266N	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1279					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.H1279N(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTGCCTTGGTGAGCCCCAGGG	0.657																																						uc002vgt.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(3835-3837)CAC>AAC		tensin							18.0	20.0	19.0					2																	218682908		2196	4277	6473	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218682908G>T	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3835C>A	2.37:g.218682908G>T	ENSP00000171887:p.His1279Asn					TNS1_uc002vgr.2_Missense_Mutation_p.H1266N|TNS1_uc002vgs.2_Missense_Mutation_p.H1258N|TNS1_uc010zjv.1_Missense_Mutation_p.H1258N	p.H1279N	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	24	4233	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1279					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.3835C>A	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	8.365	0.834018	0.16820	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.91124	-2.76;2.25;-2.78;-2.79	4.23	3.35	0.38373	.	0.424017	0.17453	N	0.173717	T	0.79667	0.4485	L	0.34521	1.04	0.41471	D	0.988103	P;P;B	0.36125	0.538;0.538;0.358	B;B;B	0.29524	0.103;0.103;0.093	T	0.71994	-0.4424	10	0.12766	T	0.61	.	5.2702	0.15620	0.0808:0.141:0.6328:0.1453	.	1279;1258;1266	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	N	1279;417;1266;1258	ENSP00000171887:H1279N;ENSP00000394171:H417N;ENSP00000408724:H1266N;ENSP00000406016:H1258N	ENSP00000171887:H1279N	H	-	1	0	TNS1	218391153	0.896000	0.30565	0.794000	0.32065	0.746000	0.42486	1.320000	0.33666	1.094000	0.41399	0.563000	0.77884	CAC		PASS	0.657	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		6	14	6	14	---	---	---	---
PRKAG3	53632	broad.mit.edu	37	2	219688495	219688495	+	Missense_Mutation	SNP	A	A	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:219688495A>T	ENST00000529249.1	-	13	1775	c.1460T>A	c.(1459-1461)cTc>cAc	p.L487H	PRKAG3_ENST00000545803.1_Missense_Mutation_p.L303H|PRKAG3_ENST00000439262.2_Missense_Mutation_p.L462H			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	487				ALGA -> PSGPEKI (in Ref. 1; CAB65117). {ECO:0000305}.	cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)	p.L487H(1)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	TCAGGCCCCGAGGGCATCGAT	0.602																																						uc002vjb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1459-1461)CTC>CAC		AMP-activated protein kinase, non-catalytic							114.0	106.0	109.0					2																	219688495		2203	4300	6503	SO:0001583	missense	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219688495A>T	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.1460T>A	2.37:g.219688495A>T	ENSP00000436068:p.Leu487His						p.L487H	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	1479	-		Renal(207;0.0474)	487	ALGA -> PSGPEKI (in Ref. 1; CAB65117).				Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	c.1460T>A	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173720	0.57692	.	.	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249	D;D;D	0.88818	-1.93;-2.43;-1.97	5.21	5.21	0.72293	.	0.373552	0.25040	N	0.033609	D	0.92877	0.7734	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93326	0.6697	10	0.66056	D	0.02	-18.7126	13.9272	0.63970	1.0:0.0:0.0:0.0	.	487	Q9UGI9	AAKG3_HUMAN	H	462;303;487	ENSP00000397133:L462H;ENSP00000444536:L303H;ENSP00000436068:L487H	ENSP00000233944:L487H	L	-	2	0	PRKAG3	219396739	1.000000	0.71417	0.966000	0.40874	0.072000	0.16883	6.615000	0.74201	1.966000	0.57179	0.459000	0.35465	CTC		PASS	0.602	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			29	77	29	77	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219878615	219878615	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:219878615C>G	ENST00000341552.5	-	22	3837	c.3754G>C	c.(3754-3756)Gag>Cag	p.E1252Q	CCDC108_ENST00000441968.1_Missense_Mutation_p.E1252Q|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.E1252Q	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1252						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.E1252Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCATCTGCTCCTGCCCAGGA	0.567																																						uc002vjl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(3754-3756)GAG>CAG		coiled-coil domain containing 108 isoform 1							48.0	49.0	48.0					2																	219878615		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219878615C>G	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3754G>C	2.37:g.219878615C>G	ENSP00000340776:p.Glu1252Gln						p.E1252Q	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	22	3838	-		Renal(207;0.0915)	1252					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.3754G>C	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756633	0.31137	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.05258	3.47;3.47;3.47	4.8	3.92	0.45320	.	0.163675	0.28796	N	0.014104	T	0.07458	0.0188	L	0.46741	1.465	0.80722	D	1	P	0.39181	0.663	B	0.41988	0.372	T	0.40459	-0.9562	10	0.22109	T	0.4	-9.9404	8.3277	0.32167	0.0:0.759:0.1564:0.0846	.	1252	Q6ZU64	CC108_HUMAN	Q	1252	ENSP00000340776:E1252Q;ENSP00000413377:E1252Q;ENSP00000409117:E1252Q	ENSP00000340776:E1252Q	E	-	1	0	CCDC108	219586859	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	1.819000	0.39022	1.017000	0.39495	0.555000	0.69702	GAG		PASS	0.567	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		6	25	6	25	---	---	---	---
TUBA4A	7277	broad.mit.edu	37	2	220115077	220115077	+	Silent	SNP	T	T	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:220115077T>C	ENST00000248437.4	-	4	1517	c.1344A>G	c.(1342-1344)gaA>gaG	p.E448E	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000498660.1_5'Flank|TUBA4A_ENST00000392088.2_Silent_p.E433E	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	448					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E433E(1)|p.E448E(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	AGCTGCTTTATTCTTCTCCCT	0.493																																						uc002vkt.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(1342-1344)GAA>GAG		tubulin, alpha 4a							149.0	152.0	151.0					2																	220115077		2203	4300	6503	SO:0001819	synonymous_variant	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220115077T>C	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.1344A>G	2.37:g.220115077T>C						TUBA4A_uc010zkz.1_Silent_p.E433E|TUBA4B_uc002vku.2_5'Flank|TUBA4B_uc002vkv.1_5'Flank	p.E448E	NM_006000	NP_005991	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1402	-		Renal(207;0.0474)	448					A8MUB1|B3KNQ6|P05215	Silent	SNP	ENST00000248437.4	37	c.1344A>G	CCDS2438.1																																																																																				PASS	0.493	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		57	157	57	157	---	---	---	---
PAX3	5077	broad.mit.edu	37	2	223066140	223066140	+	3'UTR	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:223066140G>T	ENST00000350526.4	-	0	2079				PAX3_ENST00000392069.2_Missense_Mutation_p.P481Q|PAX3_ENST00000392070.2_Missense_Mutation_p.P481Q|PAX3_ENST00000344493.4_Missense_Mutation_p.Q399K|PAX3_ENST00000464706.1_5'Flank|PAX3_ENST00000336840.6_Missense_Mutation_p.Q399K|PAX3_ENST00000409551.3_Missense_Mutation_p.P480Q	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3						apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P481Q(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCGATATCTGGCTTGAGATA	0.453			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															uc002vmt.1				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	FOXO1A|NCOA1		alveolar rhabdomyosarcoma	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	1	Substitution - Missense(1)		lung(1)	soft_tissue(761)|ovary(4)|skin(1)	766						c.(1441-1443)CCA>CAA		paired box 3 isoform PAX3e							87.0	88.0	87.0					2																	223066140		2203	4300	6503	SO:0001624	3_prime_UTR_variant	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223066140G>T		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.*503C>A	2.37:g.223066140G>T						PAX3_uc002vmy.1_Missense_Mutation_p.P480Q|PAX3_uc002vmv.1_Missense_Mutation_p.P481Q|PAX3_uc002vmw.1_Missense_Mutation_p.Q399K|PAX3_uc002vmx.1_Missense_Mutation_p.Q399K	p.P481Q	NM_181459	NP_852124	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1808	-		Renal(207;0.0183)	Error:Variant_position_missing_in_P23760_after_alignment					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.1442C>A	CCDS42826.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.68|14.68	2.607733|2.607733	0.46527|0.46527	.|.	.|.	ENSG00000135903|ENSG00000135903	ENST00000392069;ENST00000392070;ENST00000409551|ENST00000344493;ENST00000336840	D;D;D|D;D	0.93763|0.93859	-3.27;-3.27;-3.28|-3.3;-3.29	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	1.842720|.	0.03191|.	N|.	0.173328|.	D|D	0.91057|0.91057	0.7186|0.7186	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D|B;B	0.76494|0.27140	0.998;0.999|0.099;0.169	D;D|B;B	0.80764|0.23018	0.987;0.994|0.043;0.043	D|D	0.87097|0.87097	0.2176|0.2176	9|8	0.72032|0.44086	D|T	0.01|0.13	.|.	20.3626|20.3626	0.98863|0.98863	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	480;481|399;399	Q494Z4;G5E9C1|P23760-4;P23760-5	.;.|.;.	Q|K	481;481;480|399	ENSP00000375921:P481Q;ENSP00000375922:P481Q;ENSP00000386750:P480Q|ENSP00000342092:Q399K;ENSP00000338767:Q399K	ENSP00000375921:P481Q|ENSP00000338767:Q399K	P|Q	-|-	2|1	0|0	PAX3|PAX3	222774384|222774384	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.479000|7.479000	0.81095|0.81095	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CCA|CAG		PASS	0.453	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			16	59	16	59	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226446968	226446968	+	Missense_Mutation	SNP	T	T	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:226446968T>G	ENST00000272907.6	+	4	1248	c.835T>G	c.(835-837)Ttg>Gtg	p.L279V	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	279					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.L279V(1)									CTTTGACGACTTGGGCCAAGA	0.547																																						uc002voe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(835-837)TTG>GTG		hypothetical protein LOC57624							108.0	115.0	113.0					2																	226446968		2101	4209	6310	SO:0001583	missense	57624							g.chr2:226446968T>G	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.835T>G	2.37:g.226446968T>G	ENSP00000272907:p.Leu279Val					KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.L49V	p.L279V	NM_020864	NP_065915	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	4	1010	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	279					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.835T>G	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	T	7.672	0.687098	0.14973	.	.	ENSG00000144460	ENST00000272907	T	0.41758	0.99	5.84	-4.62	0.03370	.	0.416843	0.23941	N	0.043058	T	0.13329	0.0323	N	0.04880	-0.145	0.09310	N	0.999999	B	0.10296	0.003	B	0.11329	0.006	T	0.16335	-1.0406	10	0.16896	T	0.51	-5.7324	3.388	0.07278	0.174:0.394:0.3043:0.1276	.	279	Q9P242	K1486_HUMAN	V	279	ENSP00000272907:L279V	ENSP00000272907:L279V	L	+	1	2	KIAA1486	226155212	0.001000	0.12720	0.128000	0.21923	0.938000	0.57974	-0.165000	0.09968	-0.661000	0.05345	0.528000	0.53228	TTG		PASS	0.547	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		27	84	27	84	---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230678991	230678991	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:230678991C>A	ENST00000283943.5	-	11	1816	c.1638G>T	c.(1636-1638)ttG>ttT	p.L546F	TRIP12_ENST00000389045.3_Missense_Mutation_p.L249F|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.L594F	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	546					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.L546F(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ACAACATCTCCAAGGCAGTCA	0.393																																						uc002vpw.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(1636-1638)TTG>TTT		thyroid hormone receptor interactor 12							139.0	134.0	136.0					2																	230678991		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230678991C>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1638G>T	2.37:g.230678991C>A	ENSP00000283943:p.Leu546Phe					TRIP12_uc002vpx.1_Missense_Mutation_p.L594F|TRIP12_uc002vpy.1_Missense_Mutation_p.L249F|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.L552F	p.L546F	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	11	1747	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	546					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.1638G>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953789	0.73902	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.61980	0.06;0.06;0.06	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.140653	0.47455	D	0.000230	T	0.78898	0.4356	M	0.84585	2.705	0.80722	D	1	D;D;D;D	0.71674	0.998;0.995;0.995;0.995	D;D;D;D	0.78314	0.991;0.979;0.979;0.979	T	0.80120	-0.1515	10	0.51188	T	0.08	.	10.0728	0.42343	0.1367:0.7929:0.0:0.0704	.	552;249;594;546	D4HL82;Q14CF1;Q14CA3;Q14669	.;.;.;TRIPC_HUMAN	F	546;249;594	ENSP00000283943:L546F;ENSP00000373697:L249F;ENSP00000373696:L594F	ENSP00000283943:L546F	L	-	3	2	TRIP12	230387235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.010000	0.40913	2.748000	0.94277	0.551000	0.68910	TTG		PASS	0.393	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		6	61	6	61	---	---	---	---
SP100	6672	broad.mit.edu	37	2	231404037	231404037	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:231404037G>T	ENST00000340126.4	+	25	2181	c.2150G>T	c.(2149-2151)tGc>tTc	p.C717F	AC010149.4_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.C717F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGTTCTGCTGCGACACTTGT	0.507																																						uc002vqu.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(2149-2151)TGC>TTC		nuclear antigen Sp100 isoform 1							130.0	133.0	132.0					2																	231404037		2087	4215	6302	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231404037G>T	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000340126.4:c.2150G>T	2.37:g.231404037G>T	ENSP00000343023:p.Cys717Phe					SP100_uc010fxp.1_Missense_Mutation_p.C35F	p.C717F	NM_001080391	NP_001073860	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	25	2291	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	Error:Variant_position_missing_in_P23497_after_alignment					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000340126.4	37	c.2150G>T	CCDS42832.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996020	0.54147	.	.	ENSG00000067066	ENST00000340126;ENST00000414648	D	0.99927	-8.06	4.24	4.24	0.50183	.	.	.	.	.	D	0.99921	0.9963	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.982;0.992	D	0.95795	0.8828	9	0.87932	D	0	.	12.4493	0.55669	0.0:0.0:1.0:0.0	.	187;717	E9PHN1;P23497-4	.;.	F	717;187	ENSP00000343023:C717F	ENSP00000343023:C717F	C	+	2	0	SP100	231112281	0.877000	0.30153	0.414000	0.26521	0.062000	0.15995	3.940000	0.56599	2.670000	0.90874	0.655000	0.94253	TGC		PASS	0.507	SP100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332246.1	NM_003113		16	49	16	49	---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234356821	234356821	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:234356821C>A	ENST00000264057.2	+	13	1520	c.1508C>A	c.(1507-1509)tCg>tAg	p.S503*	DGKD_ENST00000409813.3_Nonsense_Mutation_p.S459*	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	503					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.S503*(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)	GTCATCTCCTCGGCCAAGTGA	0.582																																						uc002vui.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5						c.(1507-1509)TCG>TAG		diacylglycerol kinase, delta 130kDa isoform 2	Phosphatidylserine(DB00144)						62.0	60.0	61.0					2																	234356821		2203	4300	6503	SO:0001587	stop_gained	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.chr2:234356821C>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.1508C>A	2.37:g.234356821C>A	ENSP00000264057:p.Ser503*					DGKD_uc002vuj.1_Nonsense_Mutation_p.S459*|DGKD_uc010fyh.1_Nonsense_Mutation_p.S370*|DGKD_uc010fyi.1_RNA	p.S503*	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)	13	1520	+		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)	503					Q14158|Q6PK55|Q8NG53	Nonsense_Mutation	SNP	ENST00000264057.2	37	c.1508C>A	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	C	34	5.376932	0.95945	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	.	.	.	4.22	3.32	0.38043	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6458	0.62281	0.1561:0.8439:0.0:0.0	.	.	.	.	X	503;459	.	ENSP00000264057:S503X	S	+	2	0	DGKD	234021560	1.000000	0.71417	0.101000	0.21167	0.907000	0.53573	7.644000	0.83416	1.114000	0.41781	0.491000	0.48974	TCG		PASS	0.582	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		4	56	4	56	---	---	---	---
ASB18	401036	broad.mit.edu	37	2	237172907	237172907	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:237172907C>G	ENST00000409749.3	-	1	81	c.82G>C	c.(82-84)Gat>Cat	p.D28H	AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	28					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.D28H(1)		large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		CTCTCCTCATCTTTGGCATCC	0.488																																						uc010znh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(82-84)GAT>CAT		ankyrin repeat and SOCS box-containing 18							127.0	123.0	124.0					2																	237172907		2012	4188	6200	SO:0001583	missense	401036				intracellular signal transduction			g.chr2:237172907C>G	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"""Ankyrin repeat domain containing"""	19770	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 18"""			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.82G>C	2.37:g.237172907C>G	ENSP00000386532:p.Asp28His						p.D28H	NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)	1	82	-		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)	28					B6ZDL7	Missense_Mutation	SNP	ENST00000409749.3	37	c.82G>C	CCDS46548.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.913994	0.72983	.	.	ENSG00000182177	ENST00000409749;ENST00000430053	T;T	0.57273	0.41;0.56	5.14	5.14	0.70334	.	.	.	.	.	T	0.71476	0.3344	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73811	-0.3865	9	0.59425	D	0.04	.	17.3965	0.87446	0.0:1.0:0.0:0.0	.	28	Q6ZVZ8	ASB18_HUMAN	H	28	ENSP00000386532:D28H;ENSP00000410021:D28H	ENSP00000386532:D28H	D	-	1	0	ASB18	236837646	0.120000	0.22244	0.044000	0.18714	0.976000	0.68499	0.687000	0.25407	2.400000	0.81607	0.591000	0.81541	GAT		PASS	0.488	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		24	47	24	47	---	---	---	---
GADL1	339896	broad.mit.edu	37	3	30842474	30842474	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:30842474C>T	ENST00000282538.5	-	12	1307	c.1157G>A	c.(1156-1158)aGa>aAa	p.R386K	GADL1_ENST00000454381.3_Missense_Mutation_p.R386K	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	386					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)	p.R386K(1)|p.R202K(1)		breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						ATCTGGTCTTCTGCTACACTG	0.438																																						uc003cep.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1156-1158)AGA>AAA		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)						158.0	139.0	145.0					3																	30842474		2203	4300	6503	SO:0001583	missense	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30842474C>T	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.1157G>A	3.37:g.30842474C>T	ENSP00000282538:p.Arg386Lys					GADL1_uc003ceq.1_Missense_Mutation_p.R386K	p.R386K	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN			12	1204	-			386						Missense_Mutation	SNP	ENST00000282538.5	37	c.1157G>A	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	C	35	5.542730	0.96474	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.50001	0.76;0.76	5.47	5.47	0.80525	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.107097	0.56097	D	0.000032	T	0.73063	0.3539	M	0.82716	2.605	0.50467	D	0.999871	D	0.89917	1.0	D	0.97110	1.0	T	0.76493	-0.2939	10	0.66056	D	0.02	.	19.3171	0.94218	0.0:1.0:0.0:0.0	.	386	Q6ZQY3	GADL1_HUMAN	K	386	ENSP00000282538:R386K;ENSP00000427059:R386K	ENSP00000282538:R386K	R	-	2	0	GADL1	30817478	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.487000	0.81328	2.571000	0.86741	0.585000	0.79938	AGA		PASS	0.438	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		12	14	12	14	---	---	---	---
DYNC1LI1	51143	broad.mit.edu	37	3	32574570	32574570	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:32574570C>G	ENST00000273130.4	-	8	1091	c.988G>C	c.(988-990)Gat>Cat	p.D330H	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.D214H	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	330					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.D330H(1)		kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						ATTTTCTTATCATTATCCCAC	0.303																																						uc003cfb.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(988-990)GAT>CAT		dynein, cytoplasmic 1, light intermediate chain							68.0	74.0	72.0					3																	32574570		2203	4282	6485	SO:0001583	missense	51143				cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity	g.chr3:32574570C>G	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.988G>C	3.37:g.32574570C>G	ENSP00000273130:p.Asp330His					DYNC1LI1_uc011axh.1_Missense_Mutation_p.D214H	p.D330H	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN			8	1076	-			330					A2RRG7|Q53HC8|Q53HK7	Missense_Mutation	SNP	ENST00000273130.4	37	c.988G>C	CCDS2654.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130599	0.56828	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	T;T	0.17854	2.25;2.25	5.96	5.96	0.96718	.	0.043376	0.85682	D	0.000000	T	0.30603	0.0770	N	0.25890	0.77	0.80722	D	1	D;B	0.58970	0.984;0.003	P;B	0.62649	0.905;0.014	T	0.00931	-1.1510	10	0.52906	T	0.07	-20.6494	20.4192	0.99033	0.0:1.0:0.0:0.0	.	214;330	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	H	330;214	ENSP00000273130:D330H;ENSP00000407279:D214H	ENSP00000273130:D330H	D	-	1	0	DYNC1LI1	32549574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.831000	0.97527	0.650000	0.86243	GAT		PASS	0.303	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	NM_016141		9	25	9	25	---	---	---	---
CX3CR1	1524	broad.mit.edu	37	3	39306949	39306949	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:39306949G>A	ENST00000541347.1	-	2	1291	c.1052C>T	c.(1051-1053)gCa>gTa	p.A351V	CX3CR1_ENST00000358309.3_Missense_Mutation_p.A383V|CX3CR1_ENST00000399220.2_Missense_Mutation_p.A351V|CX3CR1_ENST00000542107.1_Missense_Mutation_p.A351V	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	351					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)	p.A351V(1)|p.A383V(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AAGGAGCAATGCATCTCCATC	0.458																																						uc003cjl.2																			2	Substitution - Missense(2)		lung(2)	lung(3)	3						c.(1051-1053)GCA>GTA		chemokine (C-X3-C motif) receptor 1							150.0	143.0	145.0					3																	39306949		1965	4161	6126	SO:0001583	missense	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39306949G>A	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.1052C>T	3.37:g.39306949G>A	ENSP00000439140:p.Ala351Val						p.A351V	NM_001337	NP_001328	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	1144	-			351			Cytoplasmic (Potential).		A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	c.1052C>T	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	G	4.524	0.097327	0.08681	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107	T;T;T;T	0.66995	-0.2;-0.24;-0.2;-0.2	5.37	-7.23	0.01480	.	1.662590	0.03111	N	0.162410	T	0.29061	0.0722	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30119	-0.9989	10	0.08599	T	0.76	.	3.9788	0.09486	0.1738:0.4114:0.2537:0.1611	.	351	P49238	CX3C1_HUMAN	V	351;359;383;351;351	ENSP00000382166:A351V;ENSP00000351059:A383V;ENSP00000439140:A351V;ENSP00000444928:A351V	ENSP00000351059:A383V	A	-	2	0	CX3CR1	39281953	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.347000	0.07750	-1.258000	0.02471	-0.885000	0.02943	GCA		PASS	0.458	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		71	86	71	86	---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51400047	51400047	+	Silent	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:51400047G>C	ENST00000266037.9	+	49	5258	c.5235G>C	c.(5233-5235)ctG>ctC	p.L1745L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1745	Ser-rich.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.L1734L(1)|p.L1745L(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCTCCAGCCTGAGTTCCACTC	0.572																																						uc011bds.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(5233-5235)CTG>CTC		dedicator of cytokinesis 3							81.0	87.0	85.0					3																	51400047		2115	4217	6332	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51400047G>C	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5235G>C	3.37:g.51400047G>C							p.L1745L	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	49	5258	+			1745			Ser-rich.		O15017	Silent	SNP	ENST00000266037.9	37	c.5235G>C	CCDS46835.1																																																																																				PASS	0.572	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		13	20	13	20	---	---	---	---
CFAP44	55779	broad.mit.edu	37	3	113135375	113135375	+	Silent	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:113135375G>T	ENST00000295868.2	-	6	832	c.670C>A	c.(670-672)Cga>Aga	p.R224R	WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000393845.2_Silent_p.R224R|WDR52-AS1_ENST00000473329.1_RNA	NM_018338.3	NP_060808.2												p.R224R(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GACTCACCTCGAAGGACTCTG	0.358																																						uc003eae.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(670-672)CGA>AGA		WD repeat domain 52 isoform 2							49.0	50.0	50.0					3																	113135375		2203	4297	6500	SO:0001819	synonymous_variant	55779							g.chr3:113135375G>T																												ENST00000295868.2:c.670C>A	3.37:g.113135375G>T							p.R224R	NM_018338	NP_060808	Q96MT7	WDR52_HUMAN			6	716	-			224						Silent	SNP	ENST00000295868.2	37	c.670C>A	CCDS2972.1																																																																																				PASS	0.358	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			3	11	3	11	---	---	---	---
ZNF80	7634	broad.mit.edu	37	3	113955552	113955552	+	Missense_Mutation	SNP	G	G	C	rs370641478		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:113955552G>C	ENST00000482457.2	-	1	873	c.370C>G	c.(370-372)Cgc>Ggc	p.R124G	RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	124					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.R124G(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TGAATCTGGCGGTAGCACAGG	0.562																																					GBM(23;986 1114 21716)	uc010hqo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)CGC>GGC		zinc finger protein 80							64.0	60.0	61.0					3																	113955552		2203	4300	6503	SO:0001583	missense	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955552G>C	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.370C>G	3.37:g.113955552G>C	ENSP00000417192:p.Arg124Gly					ZNF80_uc003ebf.2_RNA	p.R124G	NM_007136	NP_009067	P51504	ZNF80_HUMAN			1	874	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	124			C2H2-type 3; atypical.		Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	c.370C>G	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	G	8.729	0.916136	0.17907	.	.	ENSG00000174255	ENST00000482457	T	0.15603	2.41	2.89	1.02	0.19986	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15132	0.0365	L	0.46670	1.46	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.25328	-1.0135	9	0.87932	D	0	.	7.3241	0.26545	0.2398:0.0:0.7602:0.0	.	124	P51504	ZNF80_HUMAN	G	124	ENSP00000417192:R124G	ENSP00000309812:R124G	R	-	1	0	ZNF80	115438242	0.102000	0.21896	0.005000	0.12908	0.018000	0.09664	0.274000	0.18680	0.251000	0.21505	0.655000	0.94253	CGC		PASS	0.562	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		16	46	16	46	---	---	---	---
NR1I2	8856	broad.mit.edu	37	3	119530414	119530414	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:119530414G>C	ENST00000337940.4	+	4	525	c.477G>C	c.(475-477)gaG>gaC	p.E159D	NR1I2_ENST00000393716.2_Missense_Mutation_p.E120D|NR1I2_ENST00000466380.1_Missense_Mutation_p.E120D	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	120	Hinge.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E159D(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	CCGTGGAGGAGAGGCGGGCCT	0.632																																						uc003edj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(358-360)GAG>GAC		nuclear receptor subfamily 1, group I, member 2	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)						62.0	60.0	61.0					3																	119530414		2203	4300	6503	SO:0001583	missense	8856				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:119530414G>C	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.477G>C	3.37:g.119530414G>C	ENSP00000336528:p.Glu159Asp					NR1I2_uc003edi.2_Missense_Mutation_p.E120D|NR1I2_uc003edk.2_Missense_Mutation_p.E159D|NR1I2_uc003edl.2_Missense_Mutation_p.E8D	p.E120D	NM_003889	NP_003880	O75469	NR1I2_HUMAN		GBM - Glioblastoma multiforme(114;0.175)	4	2199	+			120			Hinge.		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	ENST00000337940.4	37	c.360G>C	CCDS2995.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655743	0.67586	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.96300	-3.97;-3.97;-3.97	4.91	4.91	0.64330	Nuclear hormone receptor, ligand-binding (1);	1.732920	0.03890	N	0.278598	D	0.94138	0.8120	N	0.19112	0.55	0.38189	D	0.939855	B;B;B	0.32425	0.139;0.156;0.371	B;B;B	0.35813	0.034;0.026;0.211	T	0.79669	-0.1707	10	0.45353	T	0.12	.	15.6361	0.76953	0.0:0.0:1.0:0.0	.	120;159;143	O75469;F1D8P9;O75469-6	NR1I2_HUMAN;.;.	D	120;120;159	ENSP00000377319:E120D;ENSP00000420297:E120D;ENSP00000336528:E159D	ENSP00000336528:E159D	E	+	3	2	NR1I2	121013104	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	4.367000	0.59498	2.543000	0.85770	0.591000	0.81541	GAG		PASS	0.632	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			8	22	8	22	---	---	---	---
STXBP5L	9515	broad.mit.edu	37	3	120876471	120876471	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:120876471C>G	ENST00000273666.6	+	9	1145	c.874C>G	c.(874-876)Cat>Gat	p.H292D	STXBP5L_ENST00000492541.1_Missense_Mutation_p.H292D|STXBP5L_ENST00000472879.1_Missense_Mutation_p.H292D|STXBP5L_ENST00000471454.1_Missense_Mutation_p.H292D|STXBP5L_ENST00000497029.1_Missense_Mutation_p.H292D	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	292					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H292D(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CACAATTCCACATGGTAAGAT	0.413																																						uc003eec.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(2)	9						c.(874-876)CAT>GAT		syntaxin binding protein 5-like							94.0	85.0	88.0					3																	120876471		1897	4115	6012	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120876471C>G	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.874C>G	3.37:g.120876471C>G	ENSP00000273666:p.His292Asp					STXBP5L_uc011bji.1_Missense_Mutation_p.H292D	p.H292D	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	9	1014	+			292					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.874C>G	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584256	0.86748	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.54071	0.59;1.83;0.59;0.59;1.63;1.83	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	M	0.75615	2.305	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.80764	0.994;0.994	T	0.72814	-0.4179	10	0.45353	T	0.12	-8.5551	18.066	0.89390	0.0:1.0:0.0:0.0	.	292;292	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	D	292	ENSP00000273666:H292D;ENSP00000420019:H292D;ENSP00000419627:H292D;ENSP00000420287:H292D;ENSP00000420666:H292D;ENSP00000420167:H292D	ENSP00000273666:H292D	H	+	1	0	STXBP5L	122359161	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.184000	0.77705	2.627000	0.88993	0.558000	0.71614	CAT		PASS	0.413	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			4	27	4	27	---	---	---	---
PARP14	54625	broad.mit.edu	37	3	122447289	122447289	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:122447289G>T	ENST00000474629.2	+	17	5517	c.5251G>T	c.(5251-5253)Gga>Tga	p.G1751*		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1751	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.G1751*(1)|p.G1588*(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTATACACATGGAAATCATTC	0.393																																						uc003efq.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|breast(2)|lung(1)|pancreas(1)	6						c.(5251-5253)GGA>TGA		poly (ADP-ribose) polymerase family, member 14							152.0	147.0	148.0					3																	122447289		1967	4182	6149	SO:0001587	stop_gained	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122447289G>T	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.5251G>T	3.37:g.122447289G>T	ENSP00000418194:p.Gly1751*					PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Nonsense_Mutation_p.G1468*	p.G1751*	NM_017554	NP_060024	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	17	5310	+			1751			PARP catalytic.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Nonsense_Mutation	SNP	ENST00000474629.2	37	c.5251G>T	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	44	10.777579	0.99466	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	.	.	.	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.7805	0.91930	0.0:0.0:1.0:0.0	.	.	.	.	X	1751;1670;747	.	ENSP00000381224:G747X	G	+	1	0	PARP14	123929979	1.000000	0.71417	0.369000	0.25952	0.004000	0.04260	9.833000	0.99426	2.850000	0.98022	0.655000	0.94253	GGA		PASS	0.393	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		8	117	8	117	---	---	---	---
PIK3R4	30849	broad.mit.edu	37	3	130463401	130463401	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:130463401G>A	ENST00000356763.3	-	2	1219	c.662C>T	c.(661-663)cCg>cTg	p.P221L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P221L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GTCTACAAGCGGAGTTGAAGG	0.428																																						uc003enj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(661-663)CCG>CTG		phosphoinositide-3-kinase, regulatory subunit 4							88.0	88.0	88.0					3																	130463401		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130463401G>A	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.662C>T	3.37:g.130463401G>A	ENSP00000349205:p.Pro221Leu						p.P221L	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			2	1243	-			221			Protein kinase.		Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.662C>T	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136567	0.56936	.	.	ENSG00000196455	ENST00000356763	T	0.06142	3.34	5.18	5.18	0.71444	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.08492	0.0211	L	0.41236	1.265	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.21793	-1.0235	10	0.36615	T	0.2	-6.8657	19.0395	0.92992	0.0:0.0:1.0:0.0	.	221	Q99570	PI3R4_HUMAN	L	221	ENSP00000349205:P221L	ENSP00000349205:P221L	P	-	2	0	PIK3R4	131946091	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	9.768000	0.98965	2.577000	0.86979	0.462000	0.41574	CCG		PASS	0.428	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		22	73	22	73	---	---	---	---
MRPL3	11222	broad.mit.edu	37	3	131220414	131220414	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:131220414G>T	ENST00000264995.3	-	2	385	c.238C>A	c.(238-240)Ctg>Atg	p.L80M	MRPL3_ENST00000425847.2_Missense_Mutation_p.L107M|MRPL3_ENST00000506946.1_5'Flank	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	80					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.L80M(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCATCTTTCAGAGGACACAGT	0.398																																						uc003eoh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(238-240)CTG>ATG		mitochondrial ribosomal protein L3							218.0	212.0	214.0					3																	131220414		2203	4300	6503	SO:0001583	missense	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131220414G>T	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.238C>A	3.37:g.131220414G>T	ENSP00000264995:p.Leu80Met					MRPL3_uc011blo.1_Translation_Start_Site|MRPL3_uc011blp.1_Missense_Mutation_p.L107M	p.L80M	NM_007208	NP_009139	P09001	RM03_HUMAN			2	402	-			80					Q6IBT2	Missense_Mutation	SNP	ENST00000264995.3	37	c.238C>A	CCDS3071.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.57|17.57	3.421333|3.421333	0.62622|0.62622	.|.	.|.	ENSG00000114686|ENSG00000114686	ENST00000264995;ENST00000425847;ENST00000512877|ENST00000511168	T;T|.	0.67698|.	-0.28;-0.27|.	5.69|5.69	2.83|2.83	0.33086|0.33086	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61009|0.61009	0.2313|0.2313	M|M	0.61703|0.61703	1.905|1.905	0.47819|0.47819	D|D	0.999527|0.999527	P;D|.	0.76494|.	0.896;0.999|.	P;D|.	0.72075|.	0.564;0.976|.	T|T	0.54735|0.54735	-0.8249|-0.8249	10|5	0.72032|.	D|.	0.01|.	-13.1884|-13.1884	9.2071|9.2071	0.37296|0.37296	0.2522:0.0:0.7478:0.0|0.2522:0.0:0.7478:0.0	.|.	107;80|.	E7ETU7;P09001|.	.;RM03_HUMAN|.	M|Y	80;107;80|94	ENSP00000264995:L80M;ENSP00000398536:L107M|.	ENSP00000264995:L80M|.	L|S	-|-	1|2	2|0	MRPL3|MRPL3	132703104|132703104	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.967000|0.967000	0.64934|0.64934	2.689000|2.689000	0.46993|0.46993	0.292000|0.292000	0.22492|0.22492	0.655000|0.655000	0.94253|0.94253	CTG|TCT		PASS	0.398	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208		8	205	8	205	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132185186	132185186	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:132185186C>A	ENST00000260818.6	+	19	2260	c.2012C>A	c.(2011-2013)cCt>cAt	p.P671H	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	671					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.P54H(1)|p.P671H(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GATCTCGTACCTGAGAAGGAT	0.393																																						uc003eor.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(2011-2013)CCT>CAT		DnaJ (Hsp40) homolog, subfamily C, member 13							107.0	104.0	105.0					3																	132185186		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132185186C>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2012C>A	3.37:g.132185186C>A	ENSP00000260818:p.Pro671His					DNAJC13_uc010htq.1_Missense_Mutation_p.P671H	p.P671H	NM_015268	NP_056083	O75165	DJC13_HUMAN			19	2077	+			671					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.2012C>A	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	30	5.050126	0.93740	.	.	ENSG00000138246	ENST00000260818	T	0.40225	1.04	5.76	5.76	0.90799	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67841	0.2936	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.99;0.997	T	0.70371	-0.4890	10	0.87932	D	0	.	18.7344	0.91749	0.0:1.0:0.0:0.0	.	671;671	A7E2Y5;O75165	.;DJC13_HUMAN	H	671	ENSP00000260818:P671H	ENSP00000260818:P671H	P	+	2	0	DNAJC13	133667876	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	7.497000	0.81536	2.716000	0.92895	0.557000	0.71058	CCT		PASS	0.393	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		6	54	6	54	---	---	---	---
TF	7018	broad.mit.edu	37	3	133478162	133478162	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:133478162G>T	ENST00000402696.3	+	9	1677	c.1192G>T	c.(1192-1194)Gcc>Tcc	p.A398S	TF_ENST00000264998.3_Missense_Mutation_p.A271S	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	398	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.A398S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	AGACTGCATCGCCAAGATCAT	0.547																																						uc003epu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1192-1194)GCC>TCC		transferrin precursor	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						159.0	146.0	150.0					3																	133478162		2203	4300	6503	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133478162G>T		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1192G>T	3.37:g.133478162G>T	ENSP00000385834:p.Ala398Ser					TF_uc011blt.1_Missense_Mutation_p.A271S|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.A398S	p.A398S	NM_001063	NP_001054	P02787	TRFE_HUMAN			14	2920	+			398			Transferrin-like 2.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.1192G>T	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843731	0.51164	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.32272	1.46;1.46	4.92	4.05	0.47172	.	0.858732	0.10989	N	0.611778	T	0.46425	0.1392	M	0.68728	2.09	0.25645	N	0.986163	P	0.37997	0.614	P	0.56278	0.795	T	0.41179	-0.9523	10	0.30854	T	0.27	-19.8476	4.6666	0.12668	0.1767:0.0:0.6481:0.1752	.	398	P02787	TRFE_HUMAN	S	398;271	ENSP00000385834:A398S;ENSP00000264998:A271S	ENSP00000264998:A271S	A	+	1	0	TF	134960852	0.182000	0.23173	0.999000	0.59377	0.987000	0.75469	1.079000	0.30766	1.440000	0.47531	0.561000	0.74099	GCC		PASS	0.547	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		53	64	53	64	---	---	---	---
SLCO2A1	6578	broad.mit.edu	37	3	133666218	133666218	+	Missense_Mutation	SNP	A	A	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:133666218A>G	ENST00000310926.4	-	9	1450	c.1177T>C	c.(1177-1179)Tct>Cct	p.S393P	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.S317P	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	393					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)	p.S393P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GCTTGTAGAGAGAAAACAAAG	0.507																																						uc003eqa.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1177-1179)TCT>CCT		solute carrier organic anion transporter family,							123.0	110.0	115.0					3																	133666218		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133666218A>G		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1177T>C	3.37:g.133666218A>G	ENSP00000311291:p.Ser393Pro					SLCO2A1_uc003eqb.3_Missense_Mutation_p.S317P|SLCO2A1_uc011blv.1_Missense_Mutation_p.S212P	p.S393P	NM_005630	NP_005621	Q92959	SO2A1_HUMAN			9	1451	-			393			Helical; Name=9; (Potential).		Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.1177T>C	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	A	9.496	1.101944	0.20632	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.40476	1.03;1.03	5.72	0.0489	0.14287	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.305675	0.36555	N	0.002522	T	0.30823	0.0777	L	0.49513	1.565	0.48762	D	0.999709	B;B;B	0.27351	0.176;0.003;0.022	B;B;B	0.27262	0.078;0.009;0.02	T	0.07309	-1.0779	10	0.46703	T	0.11	.	5.4713	0.16672	0.6509:0.0:0.226:0.1231	.	212;317;393	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	P	393;317	ENSP00000311291:S393P;ENSP00000418893:S317P	ENSP00000311291:S393P	S	-	1	0	SLCO2A1	135148908	1.000000	0.71417	0.998000	0.56505	0.097000	0.18754	1.206000	0.32321	0.336000	0.23639	0.533000	0.62120	TCT		PASS	0.507	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		13	51	13	51	---	---	---	---
MSL2	55167	broad.mit.edu	37	3	135870092	135870092	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:135870092C>A	ENST00000309993.2	-	2	2363	c.1631G>T	c.(1630-1632)aGt>aTt	p.S544I	MSL2_ENST00000434835.2_Missense_Mutation_p.S470I	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	544					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S544I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						ATTTATTACACTGGTGCTGGT	0.473																																						uc003eqx.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1630-1632)AGT>ATT		ring finger protein 184 isoform 1							117.0	114.0	115.0					3																	135870092		2203	4300	6503	SO:0001583	missense	55167				histone H4-K16 acetylation	MSL complex	zinc ion binding	g.chr3:135870092C>A	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.1631G>T	3.37:g.135870092C>A	ENSP00000311827:p.Ser544Ile					MSL2_uc011bmb.1_Missense_Mutation_p.S470I	p.S544I	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN			2	2364	-			544					B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	c.1631G>T	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638351	0.67130	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	5.73	5.73	0.89815	.	0.229211	0.49916	D	0.000123	T	0.56016	0.1957	L	0.36672	1.1	0.58432	D	0.999993	B	0.24721	0.11	B	0.21151	0.033	T	0.52275	-0.8597	9	0.51188	T	0.08	-6.6316	18.9016	0.92444	0.0:1.0:0.0:0.0	.	544	Q9HCI7	MSL2_HUMAN	I	544;470	.	ENSP00000311827:S544I	S	-	2	0	MSL2	137352782	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.875000	0.69660	2.708000	0.92522	0.467000	0.42956	AGT		PASS	0.473	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133		11	56	11	56	---	---	---	---
A4GNT	51146	broad.mit.edu	37	3	137843236	137843236	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:137843236C>T	ENST00000236709.3	-	3	1094	c.893G>A	c.(892-894)cGg>cAg	p.R298Q		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	298					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)	p.R298Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AATCACAGCCCGCCCCTCCTG	0.517																																						uc003ers.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(892-894)CGG>CAG		alpha-1,4-N-acetylglucosaminyltransferase							108.0	114.0	112.0					3																	137843236		2203	4300	6503	SO:0001583	missense	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137843236C>T	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.893G>A	3.37:g.137843236C>T	ENSP00000236709:p.Arg298Gln						p.R298Q	NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN			3	1095	-			298			Lumenal (Potential).		Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	c.893G>A	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981520	0.53827	.	.	ENSG00000118017	ENST00000236709	T	0.81415	-1.49	5.53	-5.19	0.02832	Alpha 1,4-glycosyltransferase domain (1);	0.470793	0.22091	N	0.064744	T	0.73621	0.3610	M	0.65975	2.015	0.09310	N	1	D	0.55385	0.971	B	0.44044	0.439	T	0.70963	-0.4729	10	0.36615	T	0.2	-9.9357	10.6564	0.45678	0.1129:0.132:0.0:0.7551	.	298	Q9UNA3	A4GCT_HUMAN	Q	298	ENSP00000236709:R298Q	ENSP00000236709:R298Q	R	-	2	0	A4GNT	139325926	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	-0.998000	0.03701	-0.655000	0.05387	0.563000	0.77884	CGG		PASS	0.517	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		16	66	16	66	---	---	---	---
ESYT3	83850	broad.mit.edu	37	3	138183263	138183263	+	Nonsense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:138183263C>G	ENST00000389567.4	+	9	1178	c.992C>G	c.(991-993)tCa>tGa	p.S331*		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	331	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.S331*(1)		breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CGAGGCAAGTCAGATCCCTAC	0.572																																						uc003esk.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(991-993)TCA>TGA		family with sequence similarity 62 (C2 domain							87.0	78.0	81.0					3																	138183263		2203	4300	6503	SO:0001587	stop_gained	83850					integral to membrane|plasma membrane		g.chr3:138183263C>G	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.992C>G	3.37:g.138183263C>G	ENSP00000374218:p.Ser331*					ESYT3_uc010hug.2_RNA	p.S331*	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN			9	1218	+			331			C2 1.		A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Nonsense_Mutation	SNP	ENST00000389567.4	37	c.992C>G	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	C	37	6.616348	0.97709	.	.	ENSG00000158220	ENST00000389567	.	.	.	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-7.4224	15.3587	0.74453	0.0:1.0:0.0:0.0	.	.	.	.	X	331	.	ENSP00000374218:S331X	S	+	2	0	ESYT3	139665953	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.875000	0.75551	2.499000	0.84300	0.455000	0.32223	TCA		PASS	0.572	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		20	37	20	37	---	---	---	---
ZBTB38	253461	broad.mit.edu	37	3	141163129	141163129	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:141163129G>T	ENST00000514251.1	+	4	2178	c.1899G>T	c.(1897-1899)ttG>ttT	p.L633F	ZBTB38_ENST00000441582.2_Missense_Mutation_p.L633F|ZBTB38_ENST00000321464.5_Missense_Mutation_p.L634F					zinc finger and BTB domain containing 38									p.L633F(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CCATCCCATTGGAAACATCTG	0.448																																						uc003etw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1897-1899)TTG>TTT		zinc finger and BTB domain containing 38							93.0	88.0	90.0					3																	141163129		1938	4154	6092	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163129G>T	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1899G>T	3.37:g.141163129G>T	ENSP00000426387:p.Leu633Phe					ZBTB38_uc010hun.2_Missense_Mutation_p.L630F|ZBTB38_uc010huo.2_Missense_Mutation_p.L633F|ZBTB38_uc003ety.2_Missense_Mutation_p.L633F|ZBTB38_uc010hup.2_Missense_Mutation_p.L634F	p.L633F	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			8	2881	+			633						Missense_Mutation	SNP	ENST00000514251.1	37	c.1899G>T	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602563	0.46423	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.10382	3.42;2.88;2.88;2.89	5.35	2.28	0.28536	.	0.955276	0.08582	N	0.924340	T	0.08403	0.0209	L	0.34521	1.04	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.06405	0.002;0.002	T	0.40646	-0.9552	9	.	.	.	-1.0E-4	6.3425	0.21330	0.0759:0.2527:0.5553:0.1161	.	634;633	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	F	633;633;633;634	ENSP00000424254:L633F;ENSP00000426387:L633F;ENSP00000406955:L633F;ENSP00000372635:L634F	.	L	+	3	2	ZBTB38	142645819	0.995000	0.38212	0.026000	0.17262	0.957000	0.61999	1.951000	0.40333	0.605000	0.29947	0.650000	0.86243	TTG		PASS	0.448	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			7	114	7	114	---	---	---	---
XRN1	54464	broad.mit.edu	37	3	142116193	142116193	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:142116193C>G	ENST00000264951.4	-	20	2434	c.2317G>C	c.(2317-2319)Gaa>Caa	p.E773Q	XRN1_ENST00000392981.2_Missense_Mutation_p.E773Q	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	773					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.E773Q(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CCTTGTACTTCTTTTGCCCAG	0.358																																						uc003eus.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2317-2319)GAA>CAA		5'-3' exoribonuclease 1 isoform a							142.0	132.0	136.0					3																	142116193		2203	4300	6503	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142116193C>G	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.2317G>C	3.37:g.142116193C>G	ENSP00000264951:p.Glu773Gln					XRN1_uc010huu.2_Missense_Mutation_p.E239Q|XRN1_uc003eut.2_Missense_Mutation_p.E773Q|XRN1_uc003euu.2_Missense_Mutation_p.E773Q|XRN1_uc003euv.1_Missense_Mutation_p.E634Q	p.E773Q	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN			20	2384	-			773					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.2317G>C	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355867	0.82243	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.61742	0.08;0.08	5.42	5.42	0.78866	.	0.108661	0.64402	D	0.000007	T	0.51278	0.1665	L	0.28556	0.865	0.80722	D	1	B;B;B	0.24483	0.009;0.082;0.104	B;B;B	0.31946	0.004;0.138;0.065	T	0.42120	-0.9470	10	0.24483	T	0.36	-21.2556	19.2197	0.93791	0.0:1.0:0.0:0.0	.	634;773;773	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	Q	773	ENSP00000264951:E773Q;ENSP00000376707:E773Q	ENSP00000264951:E773Q	E	-	1	0	XRN1	143598883	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.604000	0.74150	2.556000	0.86216	0.591000	0.81541	GAA		PASS	0.358	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		5	21	5	21	---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170811686	170811686	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:170811686G>T	ENST00000436636.2	-	23	3007	c.2663C>A	c.(2662-2664)tCt>tAt	p.S888Y	TNIK_ENST00000470834.1_Missense_Mutation_p.S851Y|TNIK_ENST00000369326.5_Missense_Mutation_p.S866Y|TNIK_ENST00000538048.1_Missense_Mutation_p.S840Y|TNIK_ENST00000341852.6_Missense_Mutation_p.S804Y|TNIK_ENST00000357327.5_Missense_Mutation_p.S859Y|TNIK_ENST00000284483.8_Missense_Mutation_p.S880Y|TNIK_ENST00000460047.1_Missense_Mutation_p.S825Y|TNIK_ENST00000488470.1_Missense_Mutation_p.S833Y|TNIK_ENST00000475336.1_Missense_Mutation_p.S796Y	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	888	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.S888Y(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GTCCGCATGAGAGGTCTCCAG	0.478																																						uc003fhh.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(2662-2664)TCT>TAT		TRAF2 and NCK interacting kinase isoform 1							113.0	113.0	113.0					3																	170811686		2048	4208	6256	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170811686G>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2663C>A	3.37:g.170811686G>T	ENSP00000399511:p.Ser888Tyr					TNIK_uc003fhi.2_Missense_Mutation_p.S833Y|TNIK_uc003fhj.2_Missense_Mutation_p.S859Y|TNIK_uc003fhk.2_Missense_Mutation_p.S880Y|TNIK_uc003fhl.2_Missense_Mutation_p.S804Y|TNIK_uc003fhm.2_Missense_Mutation_p.S825Y|TNIK_uc003fhn.2_Missense_Mutation_p.S851Y|TNIK_uc003fho.2_Missense_Mutation_p.S796Y|TNIK_uc003fhg.2_Missense_Mutation_p.S66Y	p.S888Y	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		23	3008	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		888			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.2663C>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186734	0.38609	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	5.39	5.39	0.77823	.	0.307470	0.33327	N	0.005036	T	0.71074	0.3297	N	0.14661	0.345	0.53005	D	0.999961	P;B;P;P;P;P;P;P	0.50819	0.514;0.284;0.514;0.514;0.884;0.582;0.514;0.939	B;B;B;B;P;B;B;P	0.51895	0.431;0.308;0.431;0.431;0.683;0.424;0.431;0.608	T	0.75747	-0.3209	10	0.56958	D	0.05	.	19.148	0.93476	0.0:0.0:1.0:0.0	.	796;851;825;804;880;859;833;888	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	Y	888;866;840;804;880;796;859;825;833;851	ENSP00000399511:S888Y;ENSP00000358332:S866Y;ENSP00000443278:S840Y;ENSP00000345352:S804Y;ENSP00000284483:S880Y;ENSP00000418156:S796Y;ENSP00000349880:S859Y;ENSP00000418916:S825Y;ENSP00000418378:S833Y;ENSP00000419990:S851Y	ENSP00000284483:S880Y	S	-	2	0	TNIK	172294380	1.000000	0.71417	0.661000	0.29709	0.316000	0.28119	7.877000	0.87225	2.500000	0.84329	0.655000	0.94253	TCT		PASS	0.478	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		7	88	7	88	---	---	---	---
MRPL47	57129	broad.mit.edu	37	3	179316559	179316559	+	Splice_Site	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:179316559C>A	ENST00000476781.1	-	4	335	c.306G>T	c.(304-306)tgG>tgT	p.W102C	MRPL47_ENST00000259038.2_Splice_Site_p.W82C|MRPL47_ENST00000392659.2_5'UTR	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	102					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)	p.W102C(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			GTAAGACATACCTATACAAAA	0.383																																						uc003fjz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)TGG>TGT		mitochondrial ribosomal protein L47 isoform a							101.0	93.0	96.0					3																	179316559		2203	4300	6503	SO:0001630	splice_region_variant	57129				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr3:179316559C>A	AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"""Mitochondrial ribosomal proteins / large subunits"""	16652	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma metastasis-related 1"""	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.306-1G>T	3.37:g.179316559C>A						MRPL47_uc003fka.2_5'UTR|MRPL47_uc003fkb.2_Missense_Mutation_p.W82C	p.W102C	NM_020409	NP_065142	Q9HD33	RM47_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		4	328	-	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		102					Q6XRG1|Q8N5D1	Missense_Mutation	SNP	ENST00000476781.1	37	c.306G>T	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494660	0.44352	.	.	ENSG00000136522	ENST00000476781;ENST00000259038	T;T	0.71103	-0.53;-0.54	5.76	5.76	0.90799	.	0.068027	0.64402	D	0.000006	D	0.89079	0.6613	H	0.94542	3.55	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.74674	0.937;0.984	D	0.91464	0.5191	10	0.87932	D	0	.	19.5525	0.95326	0.0:1.0:0.0:0.0	.	82;102	Q9HD33-2;Q9HD33	.;RM47_HUMAN	C	102;82	ENSP00000417602:W102C;ENSP00000259038:W82C	ENSP00000259038:W82C	W	-	3	0	MRPL47	180799253	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	5.963000	0.70372	2.715000	0.92844	0.561000	0.74099	TGG		PASS	0.383	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409	Missense_Mutation	10	62	10	62	---	---	---	---
ABCF3	55324	broad.mit.edu	37	3	183905548	183905548	+	Splice_Site	SNP	C	C	A	rs373729525		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:183905548C>A	ENST00000429586.2	+	5	630	c.445C>A	c.(445-447)Cta>Ata	p.L149I	ABCF3_ENST00000292808.5_Splice_Site_p.L143I|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	149					defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L149I(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGCAACCCTCTGTGAGTGGG	0.522																																						uc003fmz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(445-447)CTA>ATA		ATP-binding cassette, sub-family F (GCN20),							64.0	58.0	60.0					3																	183905548		2203	4300	6503	SO:0001630	splice_region_variant	55324						ATP binding|ATPase activity	g.chr3:183905548C>A	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.446+1C>A	3.37:g.183905548C>A						ABCF3_uc003fna.2_Missense_Mutation_p.L143I|ABCF3_uc003fnb.2_5'Flank	p.L149I	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	578	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		149					A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.445C>A	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057357	0.36277	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.92249	-3.0;-2.98	4.57	2.6	0.31112	.	0.376081	0.22156	N	0.063853	D	0.85801	0.5781	L	0.36672	1.1	0.38891	D	0.957118	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.80348	-0.1420	10	0.36615	T	0.2	-0.5465	8.863	0.35269	0.0:0.5905:0.3207:0.0889	.	143;149	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	I	149;143	ENSP00000411471:L149I;ENSP00000292808:L143I	ENSP00000292808:L143I	L	+	1	2	ABCF3	185388242	0.926000	0.31397	0.998000	0.56505	0.933000	0.57130	1.803000	0.38863	0.906000	0.36621	0.462000	0.41574	CTA		PASS	0.522	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358	Missense_Mutation	6	116	6	116	---	---	---	---
TMEM207	131920	broad.mit.edu	37	3	190165606	190165606	+	Nonsense_Mutation	SNP	G	G	T	rs138370145		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:190165606G>T	ENST00000354905.2	-	2	152	c.86C>A	c.(85-87)tCg>tAg	p.S29*		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	29						integral component of membrane (GO:0016021)		p.S29*(1)		endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		TGGTAGGTCCGAGAGCACCAA	0.353																																						uc003fsj.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(85-87)TCG>TAG		transmembrane protein 207 precursor		G	stop/SER	0,4406		0,0,2203	111.0	117.0	115.0		86	6.1	1.0	3	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	TMEM207	NM_207316.1		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		29/147	190165606	1,13005	2203	4300	6503	SO:0001587	stop_gained	131920					integral to membrane		g.chr3:190165606G>T	BC071780	CCDS3297.1	3q28	2008-02-18			ENSG00000198398	ENSG00000198398			33705	protein-coding gene	gene with protein product		614786					Standard	NM_207316		Approved		uc003fsj.2	Q6UWW9	OTTHUMG00000156213	ENST00000354905.2:c.86C>A	3.37:g.190165606G>T	ENSP00000346981:p.Ser29*						p.S29*	NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)	2	153	-	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		29						Nonsense_Mutation	SNP	ENST00000354905.2	37	c.86C>A	CCDS3297.1	.	.	.	.	.	.	.	.	.	.	G	37	6.366915	0.97511	0.0	1.16E-4	ENSG00000198398	ENST00000354905	.	.	.	6.05	6.05	0.98169	.	0.000000	0.46145	D	0.000301	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3567	16.1014	0.81175	0.0:0.0:1.0:0.0	.	.	.	.	X	29	.	ENSP00000346981:S29X	S	-	2	0	TMEM207	191648300	0.999000	0.42202	0.957000	0.39632	0.982000	0.71751	4.607000	0.61133	2.878000	0.98634	0.650000	0.86243	TCG		PASS	0.353	TMEM207-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343515.1	NM_207316		5	96	5	96	---	---	---	---
FGF12	2257	broad.mit.edu	37	3	191888416	191888416	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:191888416C>A	ENST00000454309.2	-	4	1269	c.444G>T	c.(442-444)aaG>aaT	p.K148N	FGF12_ENST00000430714.1_Missense_Mutation_p.K49N|FGF12_ENST00000264730.3_Missense_Mutation_p.K86N|FGF12_ENST00000450716.1_Missense_Mutation_p.K86N|FGF12_ENST00000445105.2_Missense_Mutation_p.K86N	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	148					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)	p.K20N(1)|p.K148N(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		ACACAGATTCCTTGAATTTGC	0.373																																						uc003fsx.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)|lung(1)|pancreas(1)	4						c.(442-444)AAG>AAT		fibroblast growth factor 12 isoform 1							142.0	146.0	145.0					3																	191888416		2203	4300	6503	SO:0001583	missense	2257				cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	g.chr3:191888416C>A	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.444G>T	3.37:g.191888416C>A	ENSP00000413496:p.Lys148Asn					FGF12_uc003fsy.2_Missense_Mutation_p.K86N	p.K148N	NM_021032	NP_066360	P61328	FGF12_HUMAN	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)	4	1270	-	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	148					B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Missense_Mutation	SNP	ENST00000454309.2	37	c.444G>T	CCDS3301.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828654	0.71258	.	.	ENSG00000114279	ENST00000264730;ENST00000392454;ENST00000445105;ENST00000454309;ENST00000440901;ENST00000450716;ENST00000430714;ENST00000448795;ENST00000418610	D;D;D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	6.07	5.17	0.71159	.	0.046985	0.85682	D	0.000000	D	0.89083	0.6614	M	0.66560	2.04	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.79108	0.986;0.992	D	0.89718	0.3917	10	0.87932	D	0	.	11.2628	0.49093	0.0:0.8425:0.0:0.1575	.	86;148	P61328-2;P61328	.;FGF12_HUMAN	N	86;86;86;148;43;86;49;62;86	ENSP00000264730:K86N;ENSP00000393686:K86N;ENSP00000413496:K148N;ENSP00000400948:K43N;ENSP00000397635:K86N;ENSP00000410125:K49N;ENSP00000412904:K62N;ENSP00000395517:K86N	ENSP00000264730:K86N	K	-	3	2	FGF12	193371110	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.578000	0.36525	1.495000	0.48549	0.655000	0.94253	AAG		PASS	0.373	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032		7	152	7	152	---	---	---	---
FYTTD1	84248	broad.mit.edu	37	3	197501077	197501077	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:197501077C>A	ENST00000241502.4	+	6	874	c.652C>A	c.(652-654)Cgt>Agt	p.R218S	FYTTD1_ENST00000428395.2_Missense_Mutation_p.R127S|FYTTD1_ENST00000424384.2_Missense_Mutation_p.R151S|FYTTD1_ENST00000415708.2_Missense_Mutation_p.R192S	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	218					mRNA export from nucleus (GO:0006406)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.R218S(1)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		AAAGAGAACTCGTCAGTAAGT	0.383																																						uc003fyi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(652-654)CGT>AGT		forty-two-three domain containing 1 isoform 1							169.0	165.0	167.0					3																	197501077		2203	4300	6503	SO:0001583	missense	84248				mRNA export from nucleus	nuclear speck	mRNA binding|protein binding	g.chr3:197501077C>A	AJ344094	CCDS3329.1, CCDS43196.1, CCDS43196.2	3q29	2011-03-03			ENSG00000122068	ENSG00000122068			25407	protein-coding gene	gene with protein product	"""UAP56-interacting factor"""					19836239	Standard	NM_001011537		Approved	DKFZp761B1514, UIF	uc003fyi.2	Q96QD9	OTTHUMG00000155453	ENST00000241502.4:c.652C>A	3.37:g.197501077C>A	ENSP00000241502:p.Arg218Ser					FYTTD1_uc011bui.1_Missense_Mutation_p.R192S|FYTTD1_uc011buj.1_RNA|FYTTD1_uc011buk.1_Missense_Mutation_p.R151S	p.R218S	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)	6	871	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	218					A8MY74|B2RCB2|B7Z3R4|B7Z7V1|B7Z8I0|B7ZAJ3|C9J7P6|C9JNG6|C9JTH3|C9JY50|Q96SL9|Q9BQI8	Missense_Mutation	SNP	ENST00000241502.4	37	c.652C>A	CCDS3329.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363034	0.82353	.	.	ENSG00000122068	ENST00000428738;ENST00000415708;ENST00000428395;ENST00000241502;ENST00000424384	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.69	5.69	0.88448	.	0.130254	0.64402	D	0.000012	T	0.62441	0.2428	M	0.64997	1.995	0.45318	D	0.998311	D;D	0.61697	0.99;0.984	P;P	0.53549	0.729;0.713	T	0.64943	-0.6288	10	0.72032	D	0.01	-6.8493	14.1708	0.65508	0.1492:0.8508:0.0:0.0	.	192;218	Q96QD9-2;Q96QD9	.;UIF_HUMAN	S	151;192;127;218;151	ENSP00000399896:R151S;ENSP00000393746:R192S;ENSP00000391157:R127S;ENSP00000241502:R218S;ENSP00000394631:R151S	ENSP00000241502:R218S	R	+	1	0	FYTTD1	198985474	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.051000	0.49885	2.857000	0.98124	0.650000	0.86243	CGT		PASS	0.383	FYTTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340185.3	NM_032288		6	200	6	200	---	---	---	---
EVC	2121	broad.mit.edu	37	4	5733382	5733382	+	Silent	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:5733382G>A	ENST00000264956.6	+	4	799	c.615G>A	c.(613-615)gaG>gaA	p.E205E	EVC_ENST00000509451.1_Silent_p.E205E|EVC_ENST00000382674.2_Silent_p.E205E	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	205					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E205E(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TGGCCTGCGAGAGGTAAGGAG	0.612																																						uc003gil.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(613-615)GAG>GAA		Ellis van Creveld syndrome protein							37.0	30.0	32.0					4																	5733382		2203	4300	6503	SO:0001819	synonymous_variant	2121				muscle organ development	integral to membrane		g.chr4:5733382G>A	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.615G>A	4.37:g.5733382G>A						EVC_uc003gim.1_RNA	p.E205E	NM_153717	NP_714928	P57679	EVC_HUMAN			4	799	+		Myeloproliferative disorder(84;0.117)	205						Silent	SNP	ENST00000264956.6	37	c.615G>A	CCDS3383.1																																																																																				PASS	0.612	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			7	10	7	10	---	---	---	---
SH3TC1	54436	broad.mit.edu	37	4	8226901	8226901	+	Splice_Site	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:8226901G>A	ENST00000245105.3	+	11	1310		c.e11-1		SH3TC1_ENST00000514274.1_Splice_Site|SH3TC1_ENST00000539824.1_Splice_Site	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1									p.?(1)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TCCCTTGCCAGACTCAGTAGA	0.562																																					NSCLC(145;2298 2623 35616 37297)	uc003gkv.3																			1	Unknown(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.e11-1		SH3 domain and tetratricopeptide repeats 1							72.0	70.0	71.0					4																	8226901		2203	4300	6503	SO:0001630	splice_region_variant	54436						binding	g.chr4:8226901G>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1244-1G>A	4.37:g.8226901G>A						SH3TC1_uc003gkw.3_Splice_Site_p.D339_splice|SH3TC1_uc003gkx.3_Splice_Site	p.D415_splice	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN			11	1345	+								Q4W5G5	Splice_Site	SNP	ENST00000245105.3	37	c.1244_splice	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	4.410	0.075786	0.08485	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	.	.	.	2.33	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.40658	D	0.982108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2477	0.31698	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SH3TC1	8277801	0.959000	0.32827	0.102000	0.21198	0.021000	0.10359	2.917000	0.48821	1.645000	0.50612	0.462000	0.41574	.		PASS	0.562	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986	Intron	6	8	6	8	---	---	---	---
CLRN2	645104	broad.mit.edu	37	4	17517142	17517142	+	Splice_Site	SNP	A	A	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:17517142A>G	ENST00000511148.2	+	1	355	c.253A>G	c.(253-255)Atc>Gtc	p.I85V		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	85						integral component of membrane (GO:0016021)		p.N85D(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						CCAATTCACGAGTGAGTATAT	0.488																																						uc003gpg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(253-255)ATC>GTC		clarin 2							45.0	45.0	45.0					4																	17517142		1907	4108	6015	SO:0001630	splice_region_variant	645104					integral to membrane		g.chr4:17517142A>G		CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.253+1A>G	4.37:g.17517142A>G							p.I85V	NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN			1	355	+			85						Missense_Mutation	SNP	ENST00000511148.2	37	c.253A>G	CCDS47032.1	.	.	.	.	.	.	.	.	.	.	A	2.405	-0.336607	0.05278	.	.	ENSG00000249581	ENST00000511148	T	0.76839	-1.05	5.42	4.25	0.50352	.	.	.	.	.	T	0.58163	0.2103	N	0.20530	0.585	0.46279	D	0.998963	B	0.02656	0.0	B	0.12156	0.007	T	0.51857	-0.8652	9	0.02654	T	1	.	10.4357	0.44435	0.9228:0.0:0.0772:0.0	.	85	A0PK11	CLRN2_HUMAN	V	85	ENSP00000424711:I85V	ENSP00000424711:I85V	I	+	1	0	CLRN2	17126240	0.911000	0.30947	0.923000	0.36655	0.116000	0.19942	2.008000	0.40893	2.064000	0.61679	0.459000	0.35465	ATC		PASS	0.488	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827	Missense_Mutation	5	15	5	15	---	---	---	---
PCDH7	5099	broad.mit.edu	37	4	30723409	30723409	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:30723409G>T	ENST00000361762.2	+	1	1373	c.365G>T	c.(364-366)aGc>aTc	p.S122I	PCDH7_ENST00000543491.1_Missense_Mutation_p.S122I	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	122	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S122I(2)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CCCTCGCAGAGCTGGGTGGAC	0.612																																						uc003gsk.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(364-366)AGC>ATC		protocadherin 7 isoform a precursor							56.0	44.0	48.0					4																	30723409		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30723409G>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.365G>T	4.37:g.30723409G>T	ENSP00000355243:p.Ser122Ile					PCDH7_uc011bxw.1_Missense_Mutation_p.S122I|PCDH7_uc011bxx.1_Missense_Mutation_p.S122I	p.S122I	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	1373	+			122			Extracellular (Potential).|Cadherin 1.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.365G>T	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808144	0.50421	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.53640	0.64;0.61	5.24	5.24	0.73138	Cadherin (3);	.	.	.	.	T	0.64011	0.2560	L	0.58101	1.795	0.52501	D	0.999952	D;D;D	0.58970	0.984;0.968;0.972	P;P;P	0.60789	0.879;0.84;0.696	T	0.66814	-0.5828	9	0.72032	D	0.01	.	18.4417	0.90669	0.0:0.0:1.0:0.0	.	122;122;122	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	I	122	ENSP00000355243:S122I;ENSP00000441802:S122I	ENSP00000330302:S122I	S	+	2	0	PCDH7	30332507	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.506000	0.73712	2.450000	0.82876	0.455000	0.32223	AGC		PASS	0.612	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		7	5	7	5	---	---	---	---
N4BP2	55728	broad.mit.edu	37	4	40123493	40123493	+	Silent	SNP	A	A	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:40123493A>G	ENST00000261435.6	+	9	4178	c.3762A>G	c.(3760-3762)ctA>ctG	p.L1254L		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1254					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)	p.L1254L(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CAGGTATTCTAAAAGCTACTA	0.373																																						uc003guy.3																			1	Substitution - coding silent(1)		lung(1)	lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(3760-3762)CTA>CTG		Nedd4 binding protein 2							103.0	112.0	109.0					4																	40123493		2203	4300	6503	SO:0001819	synonymous_variant	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40123493A>G	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3762A>G	4.37:g.40123493A>G						N4BP2_uc010ifq.2_Silent_p.L1174L|N4BP2_uc010ifr.2_Silent_p.L1174L	p.L1254L	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			9	4100	+			1254					A0AVR3|Q9NVK2|Q9P2D4	Silent	SNP	ENST00000261435.6	37	c.3762A>G	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.107283	0.00356	.	.	ENSG00000078177	ENST00000513269	.	.	.	5.93	0.377	0.16198	.	.	.	.	.	T	0.20780	0.0500	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	T	0.22836	-1.0205	4	.	.	.	0.9209	1.519	0.02512	0.4505:0.258:0.1666:0.1249	.	.	.	.	E	901	.	.	K	+	1	0	N4BP2	39799888	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.492000	0.06467	-0.121000	0.11787	-0.435000	0.05868	AAA		PASS	0.373	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		17	15	17	15	---	---	---	---
GABRB1	2560	broad.mit.edu	37	4	47408751	47408751	+	Silent	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:47408751C>A	ENST00000295454.3	+	8	1180	c.888C>A	c.(886-888)acC>acA	p.T296T	GABRB1_ENST00000538619.1_Silent_p.T226T	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	296	Allosteric effector binding. {ECO:0000250}.				cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|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)|ligand-gated ion channel activity (GO:0015276)	p.T296T(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					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)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCAGGGAGACCCTGCCAAAGA	0.438																																						uc003gxh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(886-888)ACC>ACA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						175.0	161.0	166.0					4																	47408751		2203	4300	6503	SO:0001819	synonymous_variant	2560				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.chr4:47408751C>A		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.888C>A	4.37:g.47408751C>A						GABRB1_uc011bze.1_Silent_p.T226T	p.T296T	NM_000812	NP_000803	P18505	GBRB1_HUMAN			8	1262	+			296					B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	c.888C>A	CCDS3474.1																																																																																				PASS	0.438	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			6	14	6	14	---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47765446	47765446	+	Silent	SNP	C	C	A	rs377225775		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:47765446C>A	ENST00000273857.4	-	4	566	c.567G>T	c.(565-567)ctG>ctT	p.L189L	CORIN_ENST00000502252.1_Silent_p.L122L|CORIN_ENST00000504584.1_Silent_p.L189L|CORIN_ENST00000508498.1_Silent_p.L50L|CORIN_ENST00000505909.1_Silent_p.L189L	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	189	FZ 1. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.L189L(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TACAGCCAAACAGCATGATAT	0.438																																						uc003gxm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(565-567)CTG>CTT		corin							111.0	95.0	100.0					4																	47765446		2203	4300	6503	SO:0001819	synonymous_variant	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47765446C>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.567G>T	4.37:g.47765446C>A						CORIN_uc011bzf.1_Silent_p.L50L|CORIN_uc011bzg.1_Silent_p.L122L|CORIN_uc011bzh.1_Silent_p.L189L|CORIN_uc011bzi.1_Silent_p.L189L|CORIN_uc003gxn.3_Silent_p.L189L	p.L189L	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			4	660	-			189			Extracellular (Potential).|FZ 1.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	c.567G>T	CCDS3477.1																																																																																				PASS	0.438	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			4	7	4	7	---	---	---	---
UGT2B28	54490	broad.mit.edu	37	4	70156481	70156481	+	Missense_Mutation	SNP	C	C	T	rs371664274		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:70156481C>T	ENST00000335568.5	+	5	1264	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	421					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.S421L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						CACACAATGTCGAGTACAGAC	0.423													N|||	1	0.000199681	0.0	0.0	5008	,	,		13925	0.001		0.0	False		,,,				2504	0.0					uc003hej.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1261-1263)TCG>TTG		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)	C	LEU/SER,	1,4087		0,1,2043	118.0	126.0	124.0		1262,	1.9	0.1	4		124	0,8472		0,0,4236	no	missense,intron	UGT2B28	NM_053039.1,NM_001207004.1	145,	0,1,6279	TT,TC,CC		0.0,0.0245,0.0080	probably-damaging,	421/530,	70156481	1,12559	2044	4236	6280	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70156481C>T	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1262C>T	4.37:g.70156481C>T	ENSP00000334276:p.Ser421Leu					UGT2B28_uc010ihr.2_Intron	p.S421L	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			5	1264	+			421					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.1262C>T	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	13.36	2.212865	0.39102	2.45E-4	0.0	ENSG00000135226	ENST00000335568	T	0.63417	-0.04	1.85	1.85	0.25348	.	0.725983	0.11792	U	0.529079	T	0.80019	0.4547	M	0.93150	3.385	0.09310	N	0.999992	D	0.76494	0.999	D	0.64776	0.929	T	0.65837	-0.6071	10	0.87932	D	0	.	6.2527	0.20856	0.0:0.6811:0.3188:0.0	.	421	Q9BY64	UDB28_HUMAN	L	421	ENSP00000334276:S421L	ENSP00000334276:S421L	S	+	2	0	UGT2B28	70191070	0.011000	0.17503	0.149000	0.22428	0.022000	0.10575	0.069000	0.14552	1.023000	0.39654	0.184000	0.17185	TCG		PASS	0.423	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		7	19	7	19	---	---	---	---
UTP3	57050	broad.mit.edu	37	4	71555257	71555257	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:71555257G>T	ENST00000254803.2	+	1	1062	c.863G>T	c.(862-864)aGg>aTg	p.R288M		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	288					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R288M(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			CTGAAAGCTAGGAGAGTCCCA	0.433																																						uc003hfo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(862-864)AGG>ATG		UTP3, small subunit processome component							181.0	182.0	182.0					4																	71555257		2203	4300	6503	SO:0001583	missense	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71555257G>T	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.863G>T	4.37:g.71555257G>T	ENSP00000254803:p.Arg288Met						p.R288M	NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		1	1062	+			288					Q6FI82	Missense_Mutation	SNP	ENST00000254803.2	37	c.863G>T	CCDS3546.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254100	0.59212	.	.	ENSG00000132467	ENST00000254803	T	0.32023	1.47	5.21	4.37	0.52481	.	0.046252	0.85682	D	0.000000	T	0.48607	0.1509	M	0.72894	2.215	0.42812	D	0.993966	D	0.89917	1.0	D	0.72982	0.979	T	0.48614	-0.9020	10	0.49607	T	0.09	-3.1597	6.6358	0.22881	0.3077:0.0:0.6923:0.0	.	288	Q9NQZ2	SAS10_HUMAN	M	288	ENSP00000254803:R288M	ENSP00000254803:R288M	R	+	2	0	UTP3	71774121	1.000000	0.71417	0.992000	0.48379	0.962000	0.63368	5.540000	0.67205	1.329000	0.45376	-0.136000	0.14681	AGG		PASS	0.433	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		10	364	10	364	---	---	---	---
MTHFD2L	441024	broad.mit.edu	37	4	75040299	75040300	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:75040299_75040300TG>AT	ENST00000395759.2	+	2	247_248	c.220_221TG>AT	c.(220-222)TGg>ATg	p.W74M	MTHFD2L_ENST00000331145.6_Missense_Mutation_p.W16M|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.W16M|MTHFD2L_ENST00000433372.1_De_novo_Start_OutOfFrame	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	74					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)	p.W16R(1)|p.W16L(1)|p.W16M(1)		central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TGTGGAATCATGGGTTTCCCTT	0.406																																						uc003hhn.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(46-48)TGG>AGG|c.(46-48)TGG>TTG		methylenetetrahydrofolate dehydrogenase 2-like																																				SO:0001583	missense	441024				folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity	g.chr4:75040299T>A|g.chr4:75040300G>T	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	Exception_encountered	4.37:g.75040299_75040300delinsAT	ENSP00000379108:p.Trp74Met					MTHFD2L_uc011cbj.1_Missense_Mutation_p.W16R|MTHFD2L_uc011cbk.1_Missense_Mutation_p.W74R|MTHFD2L_uc003hho.2_RNA|MTHFD2L_uc003hhs.2_RNA|MTHFD2L_uc011cbj.1_Missense_Mutation_p.W16L|MTHFD2L_uc011cbk.1_Missense_Mutation_p.W74L|MTHFD2L_uc003hho.2_RNA|MTHFD2L_uc003hhs.2_RNA	p.W16R|p.W16L	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	all cancers(17;0.0101)|Lung(101;0.196)		5	564|565	+			16					Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	37	c.46T>A|c.47G>T	CCDS47075.1																																																																																				PASS	0.406	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004346		23|24	9|8	23	8	---	---	---	---
BTC	685	broad.mit.edu	37	4	75675877	75675877	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:75675877G>T	ENST00000395743.3	-	4	694	c.334C>A	c.(334-336)Cta>Ata	p.L112I		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	112					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitosis (GO:0045840)|positive regulation of urine volume (GO:0035810)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)	p.L112I(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			TCTCCTCTTAGGTAAAACAAG	0.398																																						uc003hig.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(334-336)CTA>ATA		betacellulin precursor							208.0	219.0	216.0					4																	75675877		2203	4300	6503	SO:0001583	missense	685				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity	g.chr4:75675877G>T	S55606	CCDS3566.1	4q13.3	2012-09-20			ENSG00000174808	ENSG00000174808			1121	protein-coding gene	gene with protein product		600345				8439318, 11522793	Standard	NM_001729		Approved		uc003hig.2	P35070	OTTHUMG00000130107	ENST00000395743.3:c.334C>A	4.37:g.75675877G>T	ENSP00000379092:p.Leu112Ile						p.L112I	NM_001729	NP_001720	P35070	BTC_HUMAN	Lung(101;0.219)		4	681	-			112			Extracellular (Potential).		Q96F48	Missense_Mutation	SNP	ENST00000395743.3	37	c.334C>A	CCDS3566.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849420	0.71603	.	.	ENSG00000174808	ENST00000395743	T	0.13778	2.56	5.32	2.67	0.31697	.	0.385688	0.24571	N	0.037393	T	0.21103	0.0508	L	0.42245	1.32	0.25439	N	0.988112	D	0.63880	0.993	D	0.63703	0.917	T	0.03034	-1.1080	10	0.36615	T	0.2	-9.3804	6.3354	0.21292	0.356:0.0:0.644:0.0	.	112	P35070	BTC_HUMAN	I	112	ENSP00000379092:L112I	ENSP00000379092:L112I	L	-	1	2	BTC	75894901	0.993000	0.37304	0.979000	0.43373	0.976000	0.68499	0.962000	0.29280	0.906000	0.36621	0.563000	0.77884	CTA		PASS	0.398	BTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252413.1			8	273	8	273	---	---	---	---
G3BP2	9908	broad.mit.edu	37	4	76582779	76582779	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:76582779C>G	ENST00000359707.4	-	4	1098	c.313G>C	c.(313-315)Gaa>Caa	p.E105Q	G3BP2_ENST00000502654.1_5'UTR|G3BP2_ENST00000395719.3_Missense_Mutation_p.E105Q|G3BP2_ENST00000357854.3_Missense_Mutation_p.E105Q	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	105	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)	p.E105Q(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AACTTTCTTTCTGGTTGTCCA	0.398																																						uc003hir.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|central_nervous_system(1)	3						c.(313-315)GAA>CAA		Ras-GTPase activating protein SH3 domain-binding							162.0	160.0	160.0					4																	76582779		2203	4300	6503	SO:0001583	missense	9908				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	g.chr4:76582779C>G	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.313G>C	4.37:g.76582779C>G	ENSP00000352738:p.Glu105Gln					G3BP2_uc003his.2_Missense_Mutation_p.E105Q|G3BP2_uc003hit.2_Missense_Mutation_p.E105Q	p.E105Q	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		4	478	-			105			NTF2.		A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	c.313G>C	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290120	0.40494	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854;ENST00000503660;ENST00000507745;ENST00000509100;ENST00000511146;ENST00000515457	T;T;T	0.76578	-1.03;-1.03;-1.03	5.87	5.02	0.67125	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.142198	0.64402	D	0.000016	T	0.51227	0.1662	N	0.03608	-0.345	0.30409	N	0.779239	B;B	0.19706	0.018;0.038	B;B	0.28465	0.029;0.09	T	0.48456	-0.9034	10	0.11794	T	0.64	-0.2226	4.9888	0.14203	0.1848:0.65:0.0:0.1652	.	105;105	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	Q	105	ENSP00000379069:E105Q;ENSP00000352738:E105Q;ENSP00000350518:E105Q	ENSP00000350518:E105Q	E	-	1	0	G3BP2	76801803	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.669000	0.61575	1.595000	0.50050	0.655000	0.94253	GAA		PASS	0.398	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		33	390	33	390	---	---	---	---
PPEF2	5470	broad.mit.edu	37	4	76782018	76782018	+	Missense_Mutation	SNP	C	C	A	rs148045586		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:76782018C>A	ENST00000286719.7	-	17	2420	c.2064G>T	c.(2062-2064)atG>atT	p.M688I		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	688					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.M688I(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)			TGTCGATATTCATGTGAGAGC	0.453																																					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.(2062-2064)ATG>ATT		serine/threonine protein phosphatase with							126.0	114.0	118.0					4																	76782018		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.chr4:76782018C>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.2064G>T	4.37:g.76782018C>A	ENSP00000286719:p.Met688Ile					PPEF2_uc003hiy.2_RNA	p.M688I	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		17	2421	-			688					O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.2064G>T	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	8.303	0.820292	0.16678	.	.	ENSG00000156194	ENST00000286719	T	0.40476	1.03	6.07	6.07	0.98685	EF-hand-like domain (1);	0.056756	0.85682	D	0.000000	T	0.29321	0.0730	L	0.39397	1.21	0.37474	D	0.915729	P	0.45126	0.851	B	0.34418	0.182	T	0.19031	-1.0318	10	0.27082	T	0.32	-9.1422	11.4039	0.49885	0.0:0.9189:0.0:0.0811	.	688	O14830	PPE2_HUMAN	I	688	ENSP00000286719:M688I	ENSP00000286719:M688I	M	-	3	0	PPEF2	77001042	1.000000	0.71417	0.852000	0.33557	0.061000	0.15899	0.981000	0.29526	2.884000	0.98904	0.655000	0.94253	ATG		PASS	0.453	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		23	284	23	284	---	---	---	---
SHROOM3	57619	broad.mit.edu	37	4	77661234	77661234	+	Silent	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:77661234C>G	ENST00000296043.6	+	5	2861	c.1908C>G	c.(1906-1908)gcC>gcG	p.A636A		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	636					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.A635A(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACCACAATGCCAACCTCTGGA	0.567																																						uc011cbx.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1906-1908)GCC>GCG		shroom family member 3 protein							92.0	103.0	99.0					4																	77661234		2203	4300	6503	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661234C>G	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1908C>G	4.37:g.77661234C>G						SHROOM3_uc011cbz.1_Silent_p.A460A|SHROOM3_uc003hkf.1_Silent_p.A511A|SHROOM3_uc003hkg.2_Silent_p.A414A	p.A636A	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	2861	+			636					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.1908C>G	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	4.534	0.099143	0.08681	.	.	ENSG00000138771	ENST00000380735	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	T	0.71986	0.3405	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74064	-0.3785	5	0.66056	D	0.02	-23.4353	12.2375	0.54524	0.0:0.9223:0.0:0.0777	.	.	.	.	R	176	.	ENSP00000370111:P176R	P	+	2	0	SHROOM3	77880258	0.411000	0.25384	1.000000	0.80357	0.643000	0.38383	0.328000	0.19681	2.655000	0.90218	0.462000	0.41574	CCA		PASS	0.567	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		8	445	8	445	---	---	---	---
AFF1	4299	broad.mit.edu	37	4	88035792	88035792	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:88035792C>G	ENST00000307808.6	+	11	2206	c.1786C>G	c.(1786-1788)Caa>Gaa	p.Q596E	AFF1_ENST00000544085.1_Missense_Mutation_p.Q234E|AFF1_ENST00000395146.4_Missense_Mutation_p.Q603E	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	596					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q603E(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGAGCCCCCACAAAGGCAAAC	0.637																																						uc003hqj.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1786-1788)CAA>GAA		myeloid/lymphoid or mixed-lineage leukemia							19.0	24.0	22.0					4																	88035792		2176	4278	6454	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88035792C>G	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1786C>G	4.37:g.88035792C>G	ENSP00000305689:p.Gln596Glu					AFF1_uc011ccz.1_Missense_Mutation_p.Q603E|AFF1_uc003hqk.3_Missense_Mutation_p.Q596E|AFF1_uc011cda.1_Missense_Mutation_p.Q234E	p.Q596E	NM_005935	NP_005926	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	11	2193	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	596					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.1786C>G	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.564992	0.27915	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000544085	T;T;T	0.63417	-0.04;-0.04;-0.04	5.83	4.07	0.47477	.	1.044690	0.07445	N	0.898129	T	0.50000	0.1590	L	0.46157	1.445	0.09310	N	1	B;B;B	0.30563	0.285;0.285;0.285	B;B;B	0.25614	0.062;0.062;0.062	T	0.35226	-0.9797	10	0.02654	T	1	-0.1244	9.1996	0.37249	0.1451:0.7822:0.0:0.0728	.	603;596;596	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	E	603;255;596;234	ENSP00000378578:Q603E;ENSP00000305689:Q596E;ENSP00000440843:Q234E	ENSP00000305689:Q596E	Q	+	1	0	AFF1	88254816	0.003000	0.15002	0.000000	0.03702	0.167000	0.22549	1.871000	0.39539	0.766000	0.33244	0.561000	0.74099	CAA		PASS	0.637	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		16	27	16	27	---	---	---	---
SPP1	6696	broad.mit.edu	37	4	88903701	88903701	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:88903701G>A	ENST00000395080.3	+	7	725	c.598G>A	c.(598-600)Ggt>Agt	p.G200S	SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000360804.4_Missense_Mutation_p.G173S|SPP1_ENST00000237623.7_Missense_Mutation_p.G186S	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	200					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)	p.G200S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		GGAGTTGAATGGTGCATACAA	0.507																																						uc003hra.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(598-600)GGT>AGT		secreted phosphoprotein 1 isoform a							151.0	133.0	139.0					4																	88903701		2203	4300	6503	SO:0001583	missense	6696				biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity	g.chr4:88903701G>A		CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"""Endogenous ligands"""	11255	protein-coding gene	gene with protein product	"""early T-lymphocyte activation 1"""	166490	"""osteopontin"", ""bone sialoprotein I"""	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.598G>A	4.37:g.88903701G>A	ENSP00000378517:p.Gly200Ser					SPP1_uc003hrb.2_Missense_Mutation_p.G173S|SPP1_uc003hrc.2_Missense_Mutation_p.G186S|SPP1_uc011cde.1_Missense_Mutation_p.G213S|SPP1_uc003hrd.2_Missense_Mutation_p.G159S	p.G200S	NM_001040058	NP_001035147	P10451	OSTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)	7	763	+		Hepatocellular(203;0.114)	200					B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Missense_Mutation	SNP	ENST00000395080.3	37	c.598G>A	CCDS43250.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365811	0.41902	.	.	ENSG00000118785	ENST00000359072;ENST00000535912;ENST00000237623;ENST00000395080;ENST00000360804;ENST00000508233	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.35	0.519	0.17035	.	0.906551	0.09449	N	0.800663	T	0.25457	0.0619	N	0.22421	0.69	0.09310	N	1	B;P;B;B;B	0.47545	0.069;0.897;0.036;0.425;0.036	B;P;B;B;B	0.49085	0.026;0.6;0.026;0.192;0.026	T	0.16453	-1.0402	10	0.46703	T	0.11	-1.15	5.7744	0.18271	0.2709:0.1397:0.5895:0.0	.	213;159;186;173;200	B7Z351;Q3LGB0;B2RDA1;Q567T5;P10451	.;.;.;.;OSTP_HUMAN	S	178;159;186;200;173;159	ENSP00000237623:G186S;ENSP00000378517:G200S;ENSP00000354042:G173S;ENSP00000422973:G159S	ENSP00000237623:G186S	G	+	1	0	SPP1	89122725	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.748000	0.26305	0.059000	0.16252	-0.302000	0.09304	GGT		PASS	0.507	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253048.3			17	37	17	37	---	---	---	---
SMARCAD1	56916	broad.mit.edu	37	4	95204388	95204388	+	Missense_Mutation	SNP	A	A	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:95204388A>T	ENST00000354268.4	+	22	2916	c.2843A>T	c.(2842-2844)gAt>gTt	p.D948V	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.D518V|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.D950V			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	948	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.D948V(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ATACTTCACGATATTGACTGT	0.333																																						uc003htc.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(2842-2844)GAT>GTT		SWI/SNF-related, matrix-associated							122.0	120.0	121.0					4																	95204388		2203	4300	6503	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95204388A>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2843A>T	4.37:g.95204388A>T	ENSP00000346217:p.Asp948Val					SMARCAD1_uc003htb.3_Missense_Mutation_p.D950V|SMARCAD1_uc003htd.3_Missense_Mutation_p.D950V|SMARCAD1_uc010ila.2_Missense_Mutation_p.D813V|SMARCAD1_uc011cdw.1_Missense_Mutation_p.D518V	p.D948V	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	22	3098	+			948			Helicase C-terminal.		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.2843A>T	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303011	0.81136	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.48	5.48	0.80851	Helicase, C-terminal (3);	0.000000	0.51477	D	0.000092	D	0.95667	0.8591	H	0.99842	4.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97925	1.0317	10	0.87932	D	0	-25.2621	15.5678	0.76306	1.0:0.0:0.0:0.0	.	948;950	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	V	950;950;948;518	ENSP00000351947:D950V;ENSP00000415576:D950V;ENSP00000346217:D948V;ENSP00000423286:D518V	ENSP00000346217:D948V	D	+	2	0	SMARCAD1	95423411	1.000000	0.71417	0.897000	0.35233	0.834000	0.47266	9.300000	0.96151	2.081000	0.62600	0.482000	0.46254	GAT		PASS	0.333	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		33	58	33	58	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114280136	114280136	+	Missense_Mutation	SNP	G	G	T	rs55726422	byFrequency	TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:114280136G>T	ENST00000357077.4	+	38	10415	c.10362G>T	c.(10360-10362)agG>agT	p.R3454S	ANK2_ENST00000264366.6_Missense_Mutation_p.R3421S|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3454					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.R3454S(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)		CTTCCTGCAGGGGGGGCACGA	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.(10360-10362)AGG>AGT		ankyrin 2 isoform 1		G	,SER/ARG,	2,4396	2.1+/-5.4	0,2,2197	51.0	56.0	54.0		,10362,	0.4	0.0	4	dbSNP_129	54	0,8592		0,0,4296	yes	intron,missense,intron	ANK2	NM_001127493.1,NM_001148.4,NM_020977.3	,110,	0,2,6493	TT,TG,GG		0.0,0.0455,0.0154	,benign,	,3454/3958,	114280136	2,12988	2199	4296	6495	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114280136G>T	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.10362G>T	4.37:g.114280136G>T	ENSP00000349588:p.Arg3454Ser					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.R756S|ANK2_uc011cgb.1_Missense_Mutation_p.R3469S	p.R3454S	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	10462	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3421					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.10362G>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	1.620	-0.521755	0.04171	4.55E-4	0.0	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.95949	-0.22;-0.23;-3.86	4.4	0.407	0.16371	.	0.741411	0.11778	N	0.530465	D	0.90995	0.7168	L	0.56769	1.78	0.09310	N	1	B;B	0.31548	0.22;0.328	B;B	0.30495	0.036;0.116	T	0.79505	-0.1776	10	0.18276	T	0.48	.	3.3926	0.07294	0.4409:0.0:0.3773:0.1818	.	3421;3454	Q01484;Q01484-4	ANK2_HUMAN;.	S	3454;3421;464	ENSP00000349588:R3454S;ENSP00000264366:R3421S;ENSP00000422498:R464S	ENSP00000264366:R3421S	R	+	3	2	ANK2	114499585	0.865000	0.29922	0.002000	0.10522	0.376000	0.30014	0.329000	0.19698	0.034000	0.15491	0.650000	0.86243	AGG		PASS	0.448	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		12	29	12	29	---	---	---	---
UGT8	7368	broad.mit.edu	37	4	115544119	115544119	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:115544119C>A	ENST00000310836.6	+	2	605	c.83C>A	c.(82-84)cCa>cAa	p.P28Q	UGT8_ENST00000394511.3_Missense_Mutation_p.P28Q	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	28					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)	p.P28Q(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		ATCGTGCCGCCAATTATGTTT	0.468																																						uc003ibs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(82-84)CCA>CAA		UDP-galactose-ceramide galactosyltransferase 8							90.0	84.0	86.0					4																	115544119		2203	4300	6503	SO:0001583	missense	7368				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	g.chr4:115544119C>A	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.83C>A	4.37:g.115544119C>A	ENSP00000311648:p.Pro28Gln					UGT8_uc003ibt.2_Missense_Mutation_p.P28Q|UGT8_uc011cge.1_RNA	p.P28Q	NM_001128174	NP_001121646	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	2	605	+		Ovarian(17;0.156)	28					B3KXU7|O00196	Missense_Mutation	SNP	ENST00000310836.6	37	c.83C>A	CCDS3705.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564591	0.86439	.	.	ENSG00000174607	ENST00000310836;ENST00000507710;ENST00000394511	T;T;T	0.11495	2.77;2.77;2.77	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50575	-0.8812	10	0.62326	D	0.03	.	19.616	0.95634	0.0:1.0:0.0:0.0	.	28	Q16880	CGT_HUMAN	Q	28	ENSP00000311648:P28Q;ENSP00000421446:P28Q;ENSP00000378019:P28Q	ENSP00000311648:P28Q	P	+	2	0	UGT8	115763568	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.703000	0.84585	2.646000	0.89796	0.650000	0.86243	CCA		PASS	0.468	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		5	17	5	17	---	---	---	---
TBC1D9	23158	broad.mit.edu	37	4	141578722	141578722	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:141578722C>G	ENST00000442267.2	-	12	2240	c.2166G>C	c.(2164-2166)ttG>ttC	p.L722F		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	722							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.L722F(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCTTGCAGTTCAACAGTTTGT	0.438																																						uc010ioj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2164-2166)TTG>TTC		TBC1 domain family, member 9 (with GRAM domain)							222.0	211.0	215.0					4																	141578722		1990	4161	6151	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141578722C>G	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.2166G>C	4.37:g.141578722C>G	ENSP00000411197:p.Leu722Phe						p.L722F	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			12	2438	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	722					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.2166G>C	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444464	0.63178	.	.	ENSG00000109436	ENST00000442267	T	0.32023	1.47	5.75	2.99	0.34606	Rab-GAP/TBC domain (2);	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	M	0.93507	3.425	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.59386	-0.7464	10	0.66056	D	0.02	-6.5109	5.1462	0.14987	0.1245:0.6326:0.1091:0.1337	.	722	Q6ZT07	TBCD9_HUMAN	F	722	ENSP00000411197:L722F	ENSP00000411197:L722F	L	-	3	2	TBC1D9	141798172	0.878000	0.30173	0.385000	0.26158	0.996000	0.88848	0.366000	0.20365	0.759000	0.33084	0.650000	0.86243	TTG		PASS	0.438	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		38	110	38	110	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151604779	151604779	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:151604779T>C	ENST00000357115.3	-	37	6088	c.5845A>G	c.(5845-5847)Aca>Gca	p.T1949A	LRBA_ENST00000510413.1_Missense_Mutation_p.T1949A|LRBA_ENST00000507224.1_Missense_Mutation_p.T1949A|LRBA_ENST00000535741.1_Missense_Mutation_p.T1949A	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1949						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.T1949A(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGAGTTGCTGTCACGTGGTCA	0.428																																						uc010ipj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|skin(1)	7						c.(5845-5847)ACA>GCA		LPS-responsive vesicle trafficking, beach and							247.0	215.0	226.0					4																	151604779		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151604779T>C	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5845A>G	4.37:g.151604779T>C	ENSP00000349629:p.Thr1949Ala					LRBA_uc003ilt.3_Missense_Mutation_p.T608A|LRBA_uc003ilu.3_Missense_Mutation_p.T1949A	p.T1949A	NM_006726	NP_006717	P50851	LRBA_HUMAN			37	6319	-	all_hematologic(180;0.151)		1949					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.5845A>G	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.1|28.1	4.891352|4.891352	0.91889|0.91889	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.45668|.	0.89;0.89;0.89;0.89|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Domain of unknown function DUF1088 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.72447|.	0.3461|.	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	D;B|.	0.76494|.	0.999;0.43|.	D;B|.	0.83275|.	0.996;0.309|.	T|.	0.72491|.	-0.4277|.	10|.	0.23302|.	T|.	0.38|.	.|.	15.4214|15.4214	0.75015|0.75015	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1949;1949|.	P50851;P50851-2|.	LRBA_HUMAN;.|.	A|W	1949|601	ENSP00000446299:T1949A;ENSP00000421552:T1949A;ENSP00000349629:T1949A;ENSP00000422180:T1949A|.	ENSP00000349629:T1949A|.	T|X	-|-	1|3	0|0	LRBA|LRBA	151824229|151824229	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.997000|7.997000	0.88414|0.88414	2.119000|2.119000	0.64992|0.64992	0.477000|0.477000	0.44152|0.44152	ACA|TGA		PASS	0.428	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			10	28	10	28	---	---	---	---
WWC2	80014	broad.mit.edu	37	4	184233499	184233499	+	Silent	SNP	A	A	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:184233499A>G	ENST00000403733.3	+	22	3589	c.3390A>G	c.(3388-3390)gaA>gaG	p.E1130E	WWC2_ENST00000508747.1_Silent_p.E258E|WWC2_ENST00000504005.1_Silent_p.E812E|WWC2_ENST00000513834.1_Silent_p.E1081E|WWC2_ENST00000448232.2_Silent_p.E1154E	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1130					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.E1130E(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TCCAGGCTGAACAGTCCAAAG	0.458																																						uc010irx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(3388-3390)GAA>GAG		WW and C2 domain containing 2							111.0	117.0	115.0					4																	184233499		2203	4300	6503	SO:0001819	synonymous_variant	80014							g.chr4:184233499A>G	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.3390A>G	4.37:g.184233499A>G						WWC2_uc003ivk.3_Silent_p.E925E|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Silent_p.E812E|WWC2_uc003ivn.3_Silent_p.E645E|WWC2_uc010irz.2_Silent_p.E471E|WWC2_uc003ivo.3_Silent_p.E258E	p.E1130E	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	22	3572	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	1130			Potential.		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Silent	SNP	ENST00000403733.3	37	c.3390A>G	CCDS34109.2																																																																																				PASS	0.458	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		61	74	61	74	---	---	---	---
TRIML1	339976	broad.mit.edu	37	4	189068016	189068016	+	Silent	SNP	C	C	G	rs201972598	byFrequency	TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr4:189068016C>G	ENST00000332517.3	+	6	1037	c.897C>G	c.(895-897)ctC>ctG	p.L299L	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	299	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L299L(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ATGCCTATCTCGTGTTGTCGG	0.512																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(895-897)CTC>CTG		tripartite motif family-like 1							152.0	152.0	152.0					4																	189068016		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068016C>G	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.897C>G	4.37:g.189068016C>G						TRIML1_uc003izn.1_Silent_p.L23L	p.L299L	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1012	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	299			B30.2/SPRY.		Q96BE5	Silent	SNP	ENST00000332517.3	37	c.897C>G	CCDS3851.1																																																																																				PASS	0.512	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		52	83	52	83	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13766275	13766275	+	Missense_Mutation	SNP	G	G	A	rs139821753		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr5:13766275G>A	ENST00000265104.4	-	59	10015	c.9911C>T	c.(9910-9912)tCg>tTg	p.S3304L	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3304	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S3304L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCGATGTCCGAAGGCCTGAT	0.527									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(9910-9912)TCG>TTG		dynein, axonemal, heavy chain 5		G	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	86.0	84.0	84.0		9911	5.6	0.4	5	dbSNP_134	84	0,8600		0,0,4300	no	missense	DNAH5	NM_001369.2	145	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	3304/4625	13766275	2,13004	2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13766275G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9911C>T	5.37:g.13766275G>A	ENSP00000265104:p.Ser3304Leu					DNAH5_uc003jfc.2_5'UTR	p.S3304L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			59	9953	-	Lung NSC(4;0.00476)		3304			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.9911C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972391	0.74246	4.54E-4	0.0	ENSG00000039139	ENST00000265104	T	0.58506	0.33	5.63	5.63	0.86233	Dynein heavy chain, coiled coil stalk (1);	0.271009	0.38381	N	0.001704	T	0.64832	0.2634	M	0.78049	2.395	0.54753	D	0.999989	B	0.18741	0.03	B	0.26202	0.067	T	0.62709	-0.6797	10	0.51188	T	0.08	.	19.7357	0.96202	0.0:0.0:1.0:0.0	.	3304	Q8TE73	DYH5_HUMAN	L	3304	ENSP00000265104:S3304L	ENSP00000265104:S3304L	S	-	2	0	DNAH5	13819275	1.000000	0.71417	0.449000	0.26957	0.753000	0.42808	9.694000	0.98686	2.660000	0.90430	0.558000	0.71614	TCG		PASS	0.527	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		11	28	11	28	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13919404	13919404	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr5:13919404C>T	ENST00000265104.4	-	7	960	c.856G>A	c.(856-858)Gag>Aag	p.E286K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	286	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E286K(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCTCCAGCTCCGCTCGTGGC	0.537									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(856-858)GAG>AAG		dynein, axonemal, heavy chain 5							142.0	154.0	150.0					5																	13919404		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13919404C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.856G>A	5.37:g.13919404C>T	ENSP00000265104:p.Glu286Lys					DNAH5_uc003jfe.1_RNA	p.E286K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			7	898	-	Lung NSC(4;0.00476)		286			Potential.|Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.856G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	.	36	5.644190	0.96704	.	.	ENSG00000039139	ENST00000265104	T	0.70399	-0.48	5.5	5.5	0.81552	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	D	0.87120	0.6098	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89229	0.3576	10	0.87932	D	0	.	18.3809	0.90451	0.0:1.0:0.0:0.0	.	286	Q8TE73	DYH5_HUMAN	K	286	ENSP00000265104:E286K	ENSP00000265104:E286K	E	-	1	0	DNAH5	13972404	1.000000	0.71417	0.989000	0.46669	0.951000	0.60555	7.729000	0.84864	2.593000	0.87608	0.491000	0.48974	GAG		PASS	0.537	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		36	119	36	119	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19483619	19483619	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr5:19483619C>A	ENST00000507958.1	-	14	2663	c.1673G>T	c.(1672-1674)cGa>cTa	p.R558L	CDH18_ENST00000382275.1_Missense_Mutation_p.R558L|CDH18_ENST00000274170.4_Missense_Mutation_p.R558L|CDH18_ENST00000502796.1_Intron|CDH18_ENST00000506372.1_Intron			Q13634	CAD18_HUMAN	cadherin 18, type 2	558	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R558L(2)|p.R558Q(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTGAACAGTTCGACTAAATCT	0.458																																						uc003jgc.2																			4	Substitution - Missense(4)		prostate(2)|lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1672-1674)CGA>CTA		cadherin 18, type 2 preproprotein							101.0	85.0	90.0					5																	19483619		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19483619C>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1673G>T	5.37:g.19483619C>A	ENSP00000425093:p.Arg558Leu					CDH18_uc003jgd.2_Missense_Mutation_p.R558L|CDH18_uc011cnm.1_Intron	p.R558L	NM_004934	NP_004925	Q13634	CAD18_HUMAN			11	2050	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		558			Extracellular (Potential).|Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1673G>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881159	0.72294	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.59638	0.25;0.25;0.25	5.69	5.69	0.88448	Cadherin (4);Cadherin-like (1);	0.071240	0.64402	D	0.000020	T	0.81009	0.4734	M	0.92367	3.3	0.48975	D	0.99973	P	0.51147	0.942	P	0.61328	0.887	D	0.84572	0.0656	9	.	.	.	.	18.3739	0.90428	0.0:1.0:0.0:0.0	.	558	Q13634	CAD18_HUMAN	L	558	ENSP00000371710:R558L;ENSP00000425093:R558L;ENSP00000274170:R558L	.	R	-	2	0	CDH18	19519376	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.628000	0.54259	2.696000	0.92011	0.655000	0.94253	CGA		PASS	0.458	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		6	20	6	20	---	---	---	---
C5orf34	375444	broad.mit.edu	37	5	43487154	43487154	+	Missense_Mutation	SNP	A	A	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr5:43487154A>G	ENST00000306862.2	-	13	2155	c.1780T>C	c.(1780-1782)Tct>Cct	p.S594P	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	594								p.S594P(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TGATCAAAAGACTGTTGTTCA	0.333																																						uc003jnz.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1780-1782)TCT>CCT		hypothetical protein LOC375444							65.0	65.0	65.0					5																	43487154		2199	4293	6492	SO:0001583	missense	375444							g.chr5:43487154A>G	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.1780T>C	5.37:g.43487154A>G	ENSP00000303490:p.Ser594Pro						p.S594P	NM_198566	NP_940968	Q96MH7	CE034_HUMAN			14	2097	-	Lung NSC(6;2.07e-05)		594						Missense_Mutation	SNP	ENST00000306862.2	37	c.1780T>C	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.613093	0.28712	.	.	ENSG00000172244	ENST00000306862	T	0.54279	0.58	5.5	1.66	0.24008	.	0.442292	0.22669	N	0.057092	T	0.53029	0.1771	L	0.59436	1.845	0.09310	N	1	P	0.47191	0.891	P	0.51355	0.667	T	0.46762	-0.9168	10	0.66056	D	0.02	-0.084	4.7871	0.13230	0.7121:0.0:0.1506:0.1373	.	594	Q96MH7	CE034_HUMAN	P	594	ENSP00000303490:S594P	ENSP00000303490:S594P	S	-	1	0	C5orf34	43522911	0.865000	0.29922	0.013000	0.15412	0.064000	0.16182	1.515000	0.35845	0.045000	0.15804	-0.261000	0.10672	TCT		PASS	0.333	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		9	12	9	12	---	---	---	---
C5orf34	375444	broad.mit.edu	37	5	43506193	43506193	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr5:43506193C>T	ENST00000306862.2	-	4	964	c.589G>A	c.(589-591)Gag>Aag	p.E197K	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	197								p.E197K(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					CAATGAAACTCATTTTCTTTA	0.363																																						uc003jnz.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(589-591)GAG>AAG		hypothetical protein LOC375444							92.0	93.0	93.0					5																	43506193		2203	4300	6503	SO:0001583	missense	375444							g.chr5:43506193C>T	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.589G>A	5.37:g.43506193C>T	ENSP00000303490:p.Glu197Lys					C5orf34_uc011cpx.1_Missense_Mutation_p.E83K	p.E197K	NM_198566	NP_940968	Q96MH7	CE034_HUMAN			5	906	-	Lung NSC(6;2.07e-05)		197						Missense_Mutation	SNP	ENST00000306862.2	37	c.589G>A	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.376288	0.61735	.	.	ENSG00000172244	ENST00000306862;ENST00000509489	T	0.43294	0.95	5.14	5.14	0.70334	.	0.404413	0.27792	N	0.017829	T	0.44371	0.1290	M	0.72118	2.19	0.39036	D	0.960045	P	0.40731	0.728	B	0.41764	0.366	T	0.50591	-0.8810	10	0.48119	T	0.1	-11.764	9.7614	0.40534	0.0:0.9062:0.0:0.0938	.	197	Q96MH7	CE034_HUMAN	K	197;83	ENSP00000303490:E197K	ENSP00000303490:E197K	E	-	1	0	C5orf34	43541950	0.217000	0.23597	0.945000	0.38365	0.624000	0.37722	0.351000	0.20096	2.411000	0.81874	0.591000	0.81541	GAG		PASS	0.363	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		23	41	23	41	---	---	---	---
PARP8	79668	broad.mit.edu	37	5	50123778	50123778	+	Splice_Site	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr5:50123778C>T	ENST00000281631.5	+	20	2136	c.1978C>T	c.(1978-1980)Caa>Taa	p.Q660*	PARP8_ENST00000514342.2_Splice_Site_p.Q371*|PARP8_ENST00000514067.2_Splice_Site_p.Q618*|PARP8_ENST00000505697.2_Splice_Site_p.Q660*|PARP8_ENST00000503750.2_Splice_Site_p.Q618*|PARP8_ENST00000505554.1_Splice_Site_p.Q639*|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	660	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.Q660*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TAAATGGCAGCAATTGAAGTT	0.338																																						uc003jon.3																			1	Substitution - Nonsense(1)		lung(1)	lung(3)|large_intestine(1)|ovary(1)	5						c.(1978-1980)CAA>TAA		poly (ADP-ribose) polymerase family, member 8							139.0	136.0	137.0					5																	50123778		2203	4300	6503	SO:0001630	splice_region_variant	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50123778C>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1978-1C>T	5.37:g.50123778C>T						PARP8_uc011cpz.1_Nonsense_Mutation_p.Q552*|PARP8_uc003joo.2_Nonsense_Mutation_p.Q660*|PARP8_uc003jop.2_Nonsense_Mutation_p.Q618*	p.Q660*	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN			21	2160	+		Lung NSC(810;0.0305)|Breast(144;0.222)	660			PARP catalytic.		Q3KRB7|Q6DHZ1|Q9H754	Nonsense_Mutation	SNP	ENST00000281631.5	37	c.1978C>T	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	C	39	7.772183	0.98480	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.57	5.57	0.84162	.	0.146153	0.48286	D	0.000181	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.861	19.5427	0.95280	0.0:1.0:0.0:0.0	.	.	.	.	X	660;618;371;660;618;639;371;371	.	.	Q	+	1	0	PARP8	50159535	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.814000	0.86154	2.597000	0.87782	0.563000	0.77884	CAA		PASS	0.338	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615	Nonsense_Mutation	6	12	6	12	---	---	---	---
ITGA2	3673	broad.mit.edu	37	5	52358679	52358679	+	Missense_Mutation	SNP	G	G	T	rs200805184		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr5:52358679G>T	ENST00000296585.5	+	13	1665	c.1522G>T	c.(1522-1524)Gtg>Ttg	p.V508L		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	508					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.V508L(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CATTACAGACGTGCTCTTGGT	0.368																																						uc003joy.2																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(1522-1524)GTG>TTG		integrin alpha 2 precursor							184.0	170.0	175.0					5																	52358679		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52358679G>T		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1522G>T	5.37:g.52358679G>T	ENSP00000296585:p.Val508Leu					ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.V432L|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	p.V508L	NM_002203	NP_002194	P17301	ITA2_HUMAN			13	1665	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	508			FG-GAP 5.|Extracellular (Potential).		Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.1522G>T	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.811034	0.32053	.	.	ENSG00000164171	ENST00000296585	T	0.63744	-0.06	5.95	5.95	0.96441	.	0.061993	0.64402	D	0.000003	T	0.35711	0.0941	N	0.02665	-0.54	0.53688	D	0.999973	B;P	0.38148	0.019;0.62	B;B	0.35073	0.035;0.195	T	0.49093	-0.8975	10	0.02654	T	1	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	508;508	E7ESP4;P17301	.;ITA2_HUMAN	L	508	ENSP00000296585:V508L	ENSP00000296585:V508L	V	+	1	0	ITGA2	52394436	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.989000	0.56958	2.824000	0.97209	0.655000	0.94253	GTG		PASS	0.368	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		13	22	13	22	---	---	---	---
UTP15	84135	broad.mit.edu	37	5	72872776	72872776	+	Splice_Site	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr5:72872776G>T	ENST00000296792.4	+	8	1064		c.e8-1		UTP15_ENST00000508491.1_Splice_Site|UTP15_ENST00000543251.1_Splice_Site	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)						rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		CTTTTTATTAGGAAGGTGAAA	0.323																																						uc003kcw.1																			1	Unknown(1)		lung(1)		0						c.e8-1		UTP15, U3 small nucleolar ribonucleoprotein,							159.0	174.0	169.0					5																	72872776		2203	4300	6503	SO:0001630	splice_region_variant	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72872776G>T	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.810-1G>T	5.37:g.72872776G>T						UTP15_uc011cso.1_Splice_Site_p.R251_splice|UTP15_uc011csp.1_Splice_Site_p.R80_splice|UTP15_uc010ize.1_Splice_Site_p.R270_splice	p.R270_splice	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	8	1033	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)						B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Splice_Site	SNP	ENST00000296792.4	37	c.810_splice	CCDS34186.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120785	0.56613	.	.	ENSG00000164338	ENST00000296792;ENST00000509005;ENST00000543251;ENST00000508491	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UTP15	72908532	1.000000	0.71417	0.998000	0.56505	0.485000	0.33311	8.901000	0.92560	2.805000	0.96524	0.655000	0.94253	.		PASS	0.323	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175	Intron	6	95	6	95	---	---	---	---
YTHDC2	64848	broad.mit.edu	37	5	112870077	112870077	+	Silent	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr5:112870077G>A	ENST00000161863.4	+	6	1131	c.918G>A	c.(916-918)acG>acA	p.T306T	YTHDC2_ENST00000515883.1_Silent_p.T306T	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	306	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.T306T(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GAGATAGTACGTTGTCGACTG	0.348																																						uc003kqn.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(916-918)ACG>ACA		YTH domain containing 2							238.0	224.0	229.0					5																	112870077		2202	4300	6502	SO:0001819	synonymous_variant	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112870077G>A	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.918G>A	5.37:g.112870077G>A						YTHDC2_uc010jce.1_Silent_p.T306T|YTHDC2_uc010jcf.1_Silent_p.T6T	p.T306T	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	6	1101	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	306			Helicase ATP-binding.		B2RP66	Silent	SNP	ENST00000161863.4	37	c.918G>A	CCDS4113.1																																																																																				PASS	0.348	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		18	34	18	34	---	---	---	---
SEC24A	10802	broad.mit.edu	37	5	134002525	134002525	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr5:134002525C>A	ENST00000398844.2	+	3	866	c.578C>A	c.(577-579)cCt>cAt	p.P193H	SEC24A_ENST00000322887.4_Missense_Mutation_p.P193H	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	193	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.P193H(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTTCTGTACCTCCCTTAGTG	0.522																																						uc003kzs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(577-579)CCT>CAT		SEC24 related gene family, member A							80.0	82.0	82.0					5																	134002525		1864	4099	5963	SO:0001583	missense	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134002525C>A	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.578C>A	5.37:g.134002525C>A	ENSP00000381823:p.Pro193His					SEC24A_uc011cxu.1_5'UTR	p.P193H	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	866	+			193			Pro-rich.		A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.578C>A	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586719	0.46110	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	D;D	0.97114	-4.25;-4.25	4.67	2.85	0.33270	.	0.342242	0.29892	N	0.010932	D	0.94318	0.8174	L	0.43152	1.355	0.32580	N	0.528535	B	0.27732	0.187	B	0.32980	0.156	D	0.93038	0.6454	10	0.62326	D	0.03	-0.0308	8.7072	0.34363	0.0:0.8198:0.0:0.1802	.	193	O95486	SC24A_HUMAN	H	193	ENSP00000381823:P193H;ENSP00000321749:P193H	ENSP00000321749:P193H	P	+	2	0	SEC24A	134030424	0.050000	0.20438	0.053000	0.19242	0.840000	0.47671	1.388000	0.34442	0.482000	0.27582	0.609000	0.83330	CCT		PASS	0.522	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			6	100	6	100	---	---	---	---
FAM13B	51306	broad.mit.edu	37	5	137347574	137347574	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr5:137347574G>T	ENST00000033079.3	-	5	882	c.431C>A	c.(430-432)cCt>cAt	p.P144H	FAM13B_ENST00000425075.2_Missense_Mutation_p.P26H|FAM13B_ENST00000420893.2_Missense_Mutation_p.P144H	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	144	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.P26H(1)|p.P144H(1)		endometrium(4)|kidney(2)|lung(5)	11						ATAATTAACAGGTGGAAGCTG	0.313																																						uc003lbz.2																			2	Substitution - Missense(2)		lung(2)		0						c.(430-432)CCT>CAT		hypothetical protein LOC51306 isoform 1							49.0	52.0	51.0					5																	137347574		2203	4300	6503	SO:0001583	missense	51306				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137347574G>T	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.431C>A	5.37:g.137347574G>T	ENSP00000033079:p.Pro144His					FAM13B_uc003lcb.2_Missense_Mutation_p.P26H|FAM13B_uc003lca.2_Missense_Mutation_p.P144H	p.P144H	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN			5	965	-			144			Rho-GAP.		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	c.431C>A	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786821	0.70337	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.19669	2.13;2.13;2.13	5.52	5.52	0.82312	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.132052	0.52532	D	0.000071	T	0.49270	0.1547	M	0.74467	2.265	0.45046	D	0.998067	D;D;D	0.89917	0.975;1.0;0.998	P;D;D	0.78314	0.81;0.964;0.991	T	0.43163	-0.9408	10	0.48119	T	0.1	-11.8834	19.4512	0.94867	0.0:0.0:1.0:0.0	.	26;144;144	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	H	144;26;144	ENSP00000033079:P144H;ENSP00000394669:P26H;ENSP00000388521:P144H	ENSP00000033079:P144H	P	-	2	0	FAM13B	137375473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.675000	0.68123	2.605000	0.88082	0.637000	0.83480	CCT		PASS	0.313	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			7	69	7	69	---	---	---	---
KIF20A	10112	broad.mit.edu	37	5	137520077	137520077	+	Nonsense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr5:137520077C>G	ENST00000394894.3	+	12	1728	c.1502C>G	c.(1501-1503)tCa>tGa	p.S501*	KIF20A_ENST00000508792.1_Nonsense_Mutation_p.S483*	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	501	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.S501*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCCAAGTTCTCAGCCATTGCT	0.488																																						uc003lcj.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1501-1503)TCA>TGA		kinesin family member 20A							156.0	151.0	153.0					5																	137520077		2203	4300	6503	SO:0001587	stop_gained	10112				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	g.chr5:137520077C>G	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1502C>G	5.37:g.137520077C>G	ENSP00000378356:p.Ser501*					KIF20A_uc011cyo.1_Nonsense_Mutation_p.S483*	p.S501*	NM_005733	NP_005724	O95235	KI20A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		12	1998	+			501					B4DL79|D3DQB6	Nonsense_Mutation	SNP	ENST00000394894.3	37	c.1502C>G	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	C	39	7.580469	0.98371	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	.	.	.	5.5	5.5	0.81552	.	0.000000	0.36932	N	0.002323	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.1381	19.6014	0.95563	0.0:1.0:0.0:0.0	.	.	.	.	X	501;483	.	ENSP00000378356:S501X	S	+	2	0	KIF20A	137547976	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.320000	0.79064	2.854000	0.98071	0.655000	0.94253	TCA		PASS	0.488	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		39	119	39	119	---	---	---	---
HARS	3035	broad.mit.edu	37	5	140056260	140056260	+	Silent	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr5:140056260G>T	ENST00000504156.1	-	10	1892	c.1173C>A	c.(1171-1173)tcC>tcA	p.S391S	HARS_ENST00000431330.2_Silent_p.S277S|HARS_ENST00000438307.2_Silent_p.S351S|HARS_ENST00000307633.3_Silent_p.S331S|HARS_ENST00000504366.1_Silent_p.S322S|HARS_ENST00000457527.2_Silent_p.S371S|HARS_ENST00000415192.2_Silent_p.S317S|HARS_ENST00000448240.1_Silent_p.S196S	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	391					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)	p.S391S(1)|p.S281S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GTTCCACGATGGAGAAAATCC	0.557																																						uc003lgv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1171-1173)TCC>TCA		histidyl-tRNA synthetase	L-Histidine(DB00117)						146.0	145.0	145.0					5																	140056260		2203	4300	6503	SO:0001819	synonymous_variant	3035				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	g.chr5:140056260G>T	AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.1173C>A	5.37:g.140056260G>T						HARS_uc003lgu.2_Silent_p.S322S|HARS_uc011czm.1_Silent_p.S351S|HARS_uc003lgw.2_Silent_p.S371S|HARS_uc011czn.1_Silent_p.S331S|HARS_uc010jfu.2_Silent_p.S391S|HARS_uc011czo.1_Silent_p.S317S|HARS_uc011czp.1_Silent_p.S277S|HARS_uc011czq.1_Silent_p.S281S	p.S391S	NM_002109	NP_002100	P12081	SYHC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1255	-			391					B4DHQ1|B4DY73|D6REN6|J3KNE5	Silent	SNP	ENST00000504156.1	37	c.1173C>A	CCDS4237.1																																																																																				PASS	0.557	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109		8	184	8	184	---	---	---	---
PCDHB2	56133	broad.mit.edu	37	5	140476341	140476341	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr5:140476341C>A	ENST00000194155.4	+	1	2115	c.1967C>A	c.(1966-1968)gCc>gAc	p.A656D		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	656	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A656D(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCGCTCGGCCACCGCCACG	0.711																																						uc003lil.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(1966-1968)GCC>GAC		protocadherin beta 2 precursor							31.0	32.0	31.0					5																	140476341		1829	3680	5509	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476341C>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1967C>A	5.37:g.140476341C>A	ENSP00000194155:p.Ala656Asp					PCDHB2_uc003lim.1_Missense_Mutation_p.A317D	p.A656D	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2105	+			656			Cadherin 6.|Extracellular (Potential).		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1967C>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586437	0.46110	.	.	ENSG00000112852	ENST00000194155	T	0.52295	0.67	3.99	3.99	0.46301	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.66809	0.2827	M	0.76838	2.35	0.39501	D	0.968194	D	0.59767	0.986	D	0.68192	0.956	T	0.73597	-0.3932	9	0.87932	D	0	.	12.885	0.58038	0.0:0.835:0.165:0.0	.	656	Q9Y5E7	PCDB2_HUMAN	D	656	ENSP00000194155:A656D	ENSP00000194155:A656D	A	+	2	0	PCDHB2	140456525	0.014000	0.17966	0.994000	0.49952	0.297000	0.27493	1.954000	0.40362	1.921000	0.55644	0.456000	0.33151	GCC		PASS	0.711	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		13	15	13	15	---	---	---	---
PCDHB13	56123	broad.mit.edu	37	5	140596022	140596022	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr5:140596022C>A	ENST00000341948.4	+	1	2514	c.2327C>A	c.(2326-2328)cCc>cAc	p.P776H		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	776					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P776H(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTTCCCTCCCCAGTGCCCT	0.468																																						uc003lja.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2326-2328)CCC>CAC		protocadherin beta 13 precursor							99.0	101.0	100.0					5																	140596022		2203	4300	6503	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140596022C>A	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2327C>A	5.37:g.140596022C>A	ENSP00000345491:p.Pro776His						p.P776H	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2514	+			776			Cytoplasmic (Potential).		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.2327C>A	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	10.53	1.375928	0.24857	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.50001	0.76	4.21	-0.0427	0.13862	.	.	.	.	.	T	0.38852	0.1056	M	0.68593	2.085	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.31138	-0.9954	9	0.26408	T	0.33	.	3.8867	0.09102	0.1316:0.5823:0.1283:0.1578	.	776	Q9Y5F0	PCDBD_HUMAN	H	776;776;722	ENSP00000345491:P776H	ENSP00000345491:P776H	P	+	2	0	PCDHB13	140576206	0.000000	0.05858	0.000000	0.03702	0.321000	0.28281	-1.046000	0.03525	0.005000	0.14708	0.313000	0.20887	CCC		PASS	0.468	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		39	65	39	65	---	---	---	---
PCDHGA5	56110	broad.mit.edu	37	5	140746176	140746176	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr5:140746176C>G	ENST00000518069.1	+	1	2279	c.2279C>G	c.(2278-2280)aCc>aGc	p.T760S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	760					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T760S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTCCCTCACCGCGGACTCG	0.597																																						uc003lju.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2278-2280)ACC>AGC		protocadherin gamma subfamily A, 5 isoform 1							115.0	123.0	120.0					5																	140746176		2203	4300	6503	SO:0001583	missense	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140746176C>G	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.2279C>G	5.37:g.140746176C>G	ENSP00000429834:p.Thr760Ser					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.T760S	p.T760S	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2279	+			760			Cytoplasmic (Potential).		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.2279C>G	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.033999	0.75504	.	.	ENSG00000253485	ENST00000518069	T	0.51071	0.72	5.17	5.17	0.71159	.	.	.	.	.	T	0.67335	0.2882	M	0.67625	2.065	0.34513	D	0.707363	D;P	0.76494	0.999;0.756	D;P	0.74023	0.982;0.601	T	0.73017	-0.4115	9	0.38643	T	0.18	.	18.6441	0.91405	0.0:1.0:0.0:0.0	.	760;760	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	S	760	ENSP00000429834:T760S	ENSP00000429834:T760S	T	+	2	0	PCDHGA5	140726360	1.000000	0.71417	0.914000	0.36105	0.847000	0.48162	4.638000	0.61353	2.562000	0.86427	0.563000	0.77884	ACC		PASS	0.597	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		56	130	56	130	---	---	---	---
NDST1	3340	broad.mit.edu	37	5	149925029	149925029	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr5:149925029G>A	ENST00000261797.6	+	11	2628	c.2126G>A	c.(2125-2127)cGg>cAg	p.R709Q	snoU13_ENST00000459561.1_RNA|NDST1_ENST00000523767.1_Missense_Mutation_p.R709Q	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	709	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.R709Q(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCGCGGACCGGGCCTATTCC	0.597																																						uc003lsk.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(2125-2127)CGG>CAG		N-deacetylase/N-sulfotransferase (heparan							83.0	96.0	92.0					5																	149925029		2203	4300	6503	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149925029G>A	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.2126G>A	5.37:g.149925029G>A	ENSP00000261797:p.Arg709Gln					NDST1_uc011dcj.1_Missense_Mutation_p.R709Q	p.R709Q	NM_001543	NP_001534	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	2628	+		all_hematologic(541;0.224)	709			Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential).		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.2126G>A	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	G	36	5.888268	0.97068	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.62941	-0.01;-0.01	5.08	5.08	0.68730	Sulfotransferase domain (1);	0.048789	0.85682	N	0.000000	D	0.86310	0.5902	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90775	0.4675	10	0.87932	D	0	.	18.8392	0.92176	0.0:0.0:1.0:0.0	.	709;709	E7EVJ3;P52848	.;NDST1_HUMAN	Q	709	ENSP00000428604:R709Q;ENSP00000261797:R709Q	ENSP00000261797:R709Q	R	+	2	0	NDST1	149905222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.414000	0.97362	2.517000	0.84864	0.655000	0.94253	CGG		PASS	0.597	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		33	92	33	92	---	---	---	---
ANXA6	309	broad.mit.edu	37	5	150496742	150496742	+	Splice_Site	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr5:150496742C>A	ENST00000354546.5	-	20	1746		c.e20-1		ANXA6_ENST00000356496.5_Splice_Site|ANXA6_ENST00000521512.1_Splice_Site|ANXA6_ENST00000377751.5_Splice_Site|ANXA6_ENST00000523714.1_Splice_Site	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6						calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)	p.?(2)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACGATGCCCCTGCAGCAGGA	0.582																																						uc003ltl.1																			2	Unknown(2)		lung(2)		0						c.e20-1		annexin VI isoform 1							67.0	78.0	75.0					5																	150496742		2075	4207	6282	SO:0001630	splice_region_variant	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150496742C>A	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1519-1G>T	5.37:g.150496742C>A						ANXA6_uc011dcp.1_Splice_Site_p.G475_splice|ANXA6_uc003ltm.1_Splice_Site_p.G507_splice|ANXA6_uc003ltn.1_Splice_Site_p.G300_splice|ANXA6_uc003lto.1_Splice_Site_p.G94_splice	p.G507_splice	NM_001155	NP_001146	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		20	1671	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)						B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Splice_Site	SNP	ENST00000354546.5	37	c.1519_splice	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561699	0.65538	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2601	0.90033	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANXA6	150476935	1.000000	0.71417	0.999000	0.59377	0.658000	0.38924	5.122000	0.64697	2.593000	0.87608	0.561000	0.74099	.		PASS	0.582	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155	Intron	16	39	16	39	---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168199840	168199840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr5:168199840G>A	ENST00000519560.1	-	14	1824	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	SLIT3_ENST00000332966.8_Nonsense_Mutation_p.R469*|SLIT3_ENST00000404867.3_Nonsense_Mutation_p.R469*	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	469	LRRCT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.R469*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGGCGAGTCGGCGCGGGCTG	0.602																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1405-1407)CGA>TGA		slit homolog 3 precursor							40.0	42.0	41.0					5																	168199840		2203	4300	6503	SO:0001587	stop_gained	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168199840G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1405C>T	5.37:g.168199840G>A	ENSP00000430333:p.Arg469*					SLIT3_uc010jjg.2_Nonsense_Mutation_p.R469*|SLIT3_uc010jji.2_Nonsense_Mutation_p.R469*|SLIT3_uc003mac.1_Nonsense_Mutation_p.R266*	p.R469*	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		14	1825	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	469			LRRCT 2.		A6H8U9|J3KNP3|O95804|Q9UFH5	Nonsense_Mutation	SNP	ENST00000519560.1	37	c.1405C>T	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	39	7.539552	0.98345	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	.	.	.	5.63	4.75	0.60458	.	0.053495	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7298	0.77792	0.0:0.0:0.8622:0.1378	.	.	.	.	X	469	.	ENSP00000332164:R469X	R	-	1	2	SLIT3	168132418	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	5.741000	0.68638	1.339000	0.45563	0.561000	0.74099	CGA		PASS	0.602	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		9	26	9	26	---	---	---	---
CNOT6	57472	broad.mit.edu	37	5	179991578	179991578	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr5:179991578G>T	ENST00000393356.1	+	7	899	c.475G>T	c.(475-477)Ggt>Tgt	p.G159C	CNOT6_ENST00000261951.4_Missense_Mutation_p.G159C|CNOT6_ENST00000502447.1_3'UTR			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	159	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)	p.G159C(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TAATTTGTCAGGTACTGCAAA	0.338																																						uc003mlx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(475-477)GGT>TGT		CCR4-NOT transcription complex, subunit 6							121.0	127.0	125.0					5																	179991578		2203	4300	6503	SO:0001583	missense	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	g.chr5:179991578G>T	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.475G>T	5.37:g.179991578G>T	ENSP00000377024:p.Gly159Cys					CNOT6_uc010jld.2_Missense_Mutation_p.G159C|CNOT6_uc010jle.2_Missense_Mutation_p.V159F	p.G159C	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	5	824	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	159					A7MD46|D3DWR0	Missense_Mutation	SNP	ENST00000393356.1	37	c.475G>T	CCDS4455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.63|19.63	3.864336|3.864336	0.71949|0.71949	.|.	.|.	ENSG00000113300|ENSG00000113300	ENST00000261951;ENST00000393356|ENST00000504343	T;T|T	0.33865|0.47528	1.39;1.39|0.84	5.37|5.37	4.5|4.5	0.54988|0.54988	.|.	0.052278|.	0.85682|.	D|.	0.000000|.	T|T	0.41351|0.41351	0.1155|0.1155	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	D|B	0.63880|0.10296	0.993|0.003	P|B	0.52267|0.11329	0.694|0.006	T|T	0.20371|0.20371	-1.0277|-1.0277	9|8	.|.	.|.	.|.	-7.681|-7.681	14.2141|14.2141	0.65781|0.65781	0.0723:0.0:0.9277:0.0|0.0723:0.0:0.9277:0.0	.|.	159|68	Q9ULM6|D6R9H6	CNOT6_HUMAN|.	C|F	159|68	ENSP00000261951:G159C;ENSP00000377024:G159C|ENSP00000422087:V68F	.|.	G|V	+|+	1|1	0|0	CNOT6|CNOT6	179924184|179924184	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.869000|9.869000	0.99810|0.99810	1.268000|1.268000	0.44264|0.44264	0.557000|0.557000	0.71058|0.71058	GGT|GTT		PASS	0.338	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455		6	85	6	85	---	---	---	---
HIVEP1	3096	broad.mit.edu	37	6	12121781	12121781	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:12121781C>T	ENST00000379388.2	+	4	2085	c.1753C>T	c.(1753-1755)Cct>Tct	p.P585S		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	585					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P585S(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GGATCCCAAGCCTGAACTTTC	0.507																																						uc003nac.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(1753-1755)CCT>TCT		human immunodeficiency virus type I enhancer							64.0	61.0	62.0					6																	12121781		2007	4164	6171	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12121781C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.1753C>T	6.37:g.12121781C>T	ENSP00000368698:p.Pro585Ser					HIVEP1_uc011diq.1_RNA	p.P585S	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	1932	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	585					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.1753C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	1.754	-0.488563	0.04352	.	.	ENSG00000095951	ENST00000379388	T	0.10477	2.87	5.92	1.07	0.20283	.	0.225081	0.22978	N	0.053341	T	0.02455	0.0075	L	0.38531	1.155	0.80722	D	1	B	0.11235	0.004	B	0.14578	0.011	T	0.37314	-0.9711	9	.	.	.	-3.3096	6.5666	0.22515	0.0:0.539:0.2162:0.2447	.	585	P15822	ZEP1_HUMAN	S	585	ENSP00000368698:P585S	.	P	+	1	0	HIVEP1	12229767	0.004000	0.15560	0.056000	0.19401	0.081000	0.17604	1.275000	0.33144	0.124000	0.18369	-0.150000	0.13652	CCT		PASS	0.507	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		42	25	42	25	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24178827	24178827	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:24178827C>A	ENST00000378454.3	-	9	1358	c.1057G>T	c.(1057-1059)Gga>Tga	p.G353*	DCDC2_ENST00000378450.3_Nonsense_Mutation_p.G106*	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	353					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)			p.G353*(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GCCTTCTCTCCATCTTCTTCC	0.433																																						uc003ndx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1057-1059)GGA>TGA		doublecortin domain containing 2							276.0	233.0	248.0					6																	24178827		2203	4300	6503	SO:0001587	stop_gained	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24178827C>A	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.1057G>T	6.37:g.24178827C>A	ENSP00000367715:p.Gly353*					DCDC2_uc003ndy.2_Nonsense_Mutation_p.G353*|DCDC2_uc003ndw.2_Nonsense_Mutation_p.G104*	p.G353*	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN			9	1359	-		Ovarian(999;0.101)	353					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Nonsense_Mutation	SNP	ENST00000378454.3	37	c.1057G>T	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600766	0.87055	.	.	ENSG00000146038	ENST00000378454;ENST00000378450	.	.	.	5.36	4.49	0.54785	.	0.540069	0.19875	N	0.104119	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-4.9798	10.3249	0.43787	0.0:0.9088:0.0:0.0912	.	.	.	.	X	353;106	.	ENSP00000367711:G106X	G	-	1	0	DCDC2	24286806	0.296000	0.24398	0.993000	0.49108	0.847000	0.48162	1.640000	0.37186	1.387000	0.46486	0.655000	0.94253	GGA		PASS	0.433	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		33	23	33	23	---	---	---	---
ZNF391	346157	broad.mit.edu	37	6	27368847	27368847	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:27368847G>A	ENST00000244576.4	+	3	1243	c.698G>A	c.(697-699)cGt>cAt	p.R233H	RP1-153G14.4_ENST00000607727.1_lincRNA	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R233H(2)		endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						TTCGGTGACCGTTCAACCATA	0.423																																						uc003njf.1																			2	Substitution - Missense(2)		lung(2)	pancreas(2)|skin(1)	3						c.(697-699)CGT>CAT		zinc finger protein 391							72.0	74.0	73.0					6																	27368847		2195	4296	6491	SO:0001583	missense	346157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27368847G>A	BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.698G>A	6.37:g.27368847G>A	ENSP00000244576:p.Arg233His						p.R233H	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN			3	1216	+			233			C2H2-type 5.		B4DH77	Missense_Mutation	SNP	ENST00000244576.4	37	c.698G>A	CCDS43429.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787737	0.31593	.	.	ENSG00000124613	ENST00000244576	T	0.36157	1.27	4.01	-1.34	0.09143	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13415	0.0325	L	0.47190	1.495	0.09310	N	1	D	0.69078	0.997	P	0.45881	0.496	T	0.07790	-1.0754	9	0.38643	T	0.18	.	3.202	0.06652	0.2742:0.0:0.2299:0.4959	.	233	Q9UJN7	ZN391_HUMAN	H	233	ENSP00000244576:R233H	ENSP00000244576:R233H	R	+	2	0	ZNF391	27476826	0.000000	0.05858	0.041000	0.18516	0.442000	0.32017	-0.108000	0.10857	0.132000	0.18615	0.563000	0.77884	CGT		PASS	0.423	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781		17	8	17	8	---	---	---	---
HIST1H3H	8357	broad.mit.edu	37	6	27778110	27778110	+	Missense_Mutation	SNP	A	A	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:27778110A>T	ENST00000369163.2	+	1	269	c.259A>T	c.(259-261)Agc>Tgc	p.S87C	HIST1H2BL_ENST00000377401.2_5'Flank	NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	87					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.S87C(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						GCGCTTCCAGAGCTCCGCGGT	0.607																																						uc003njm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(259-261)AGC>TGC		histone cluster 1, H3h							69.0	63.0	65.0					6																	27778110		2203	4300	6503	SO:0001583	missense	8357				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27778110A>T	Z83735	CCDS4627.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000203813	ENSG00000278828		"""Histones / Replication-dependent"""	4775	protein-coding gene	gene with protein product		602818	"""H3 histone family, member K"", ""histone 1, H3h"""	H3FK		9439656, 12408966	Standard	NM_003536		Approved	H3/k, H3F1K	uc003njm.3	P68431	OTTHUMG00000014483	ENST00000369163.2:c.259A>T	6.37:g.27778110A>T	ENSP00000358160:p.Ser87Cys					HIST1H2BL_uc003njl.2_5'Flank	p.S87C	NM_003536	NP_003527	P68431	H31_HUMAN			1	269	+			87					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000369163.2	37	c.259A>T	CCDS4627.1	.	.	.	.	.	.	.	.	.	.	.	14.85	2.657905	0.47467	.	.	ENSG00000203813	ENST00000369163	T	0.71934	-0.61	4.33	4.33	0.51752	.	.	.	.	.	T	0.73946	0.3652	.	.	.	0.43622	D	0.996007	.	.	.	.	.	.	T	0.78765	-0.2076	6	0.87932	D	0	.	13.3752	0.60734	1.0:0.0:0.0:0.0	.	.	.	.	C	87	ENSP00000358160:S87C	ENSP00000358160:S87C	S	+	1	0	HIST1H3H	27886089	1.000000	0.71417	0.999000	0.59377	0.083000	0.17756	8.837000	0.92110	1.888000	0.54679	0.533000	0.62120	AGC		PASS	0.607	HIST1H3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040151.1	NM_003536		38	34	38	34	---	---	---	---
HLA-DRB5	3127	broad.mit.edu	37	6	32487330	32487330	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:32487330C>T	ENST00000374975.3	-	3	531	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5									p.E157K(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CACCTGACTTCAATGCTGCCT	0.552																																						uc003obj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(469-471)GAA>AAA		major histocompatibility complex, class II, DR							51.0	64.0	60.0					6																	32487330		2125	4229	6354	SO:0001583	missense	3127				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32487330C>T		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.469G>A	6.37:g.32487330C>T	ENSP00000364114:p.Glu157Lys					HLA-DRB1_uc011dqa.1_Intron|HLA-DRB5_uc003obk.3_Missense_Mutation_p.E157K	p.E157K	NM_002125	NP_002116	Q30154	DRB5_HUMAN			3	474	-			157			Ig-like C1-type.|Beta-2.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000374975.3	37	c.469G>A	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	16.06	3.017080	0.54576	.	.	ENSG00000198502	ENST00000374975	T	0.02837	4.14	4.69	1.87	0.25490	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.303011	0.37669	N	0.001991	T	0.01661	0.0053	N	0.11845	0.185	0.19775	N	0.999952	D;D	0.71674	0.995;0.998	D;D	0.85130	0.937;0.997	T	0.46289	-0.9202	10	0.87932	D	0	.	3.5007	0.07672	0.0:0.5144:0.2004:0.2852	.	84;157	Q29973;Q30154	.;DRB5_HUMAN	K	157	ENSP00000364114:E157K	ENSP00000364114:E157K	E	-	1	0	HLA-DRB5	32595308	0.017000	0.18338	0.059000	0.19551	0.690000	0.40134	0.364000	0.20325	0.691000	0.31592	0.556000	0.70494	GAA		PASS	0.552	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		8	22	8	22	---	---	---	---
HLA-DRB1	3123	broad.mit.edu	37	6	32549517	32549517	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:32549517C>T	ENST00000360004.5	-	3	574	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	157	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)		p.E157K(1)		large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						CACCTGACTTCAATGCTGCCT	0.547										Multiple Myeloma(14;0.17)																												uc003obp.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(469-471)GAA>AAA		major histocompatibility complex, class II, DR							93.0	111.0	104.0					6																	32549517		1511	2709	4220	SO:0001583	missense	3123	Rheumatoid_Arthritis|Sj_gren_syndrome			antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32549517C>T	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.469G>A	6.37:g.32549517C>T	ENSP00000353099:p.Glu157Lys	Multiple Myeloma(14;0.17)				HLA-DRB1_uc011dqa.1_5'UTR|HLA-DRB5_uc003obk.3_Intron|HLA-DRB6_uc003obo.1_Intron|HLA-DRB1_uc011dqb.1_5'UTR|HLA-DRB1_uc011dqc.1_5'UTR	p.E157K	NM_002124	NP_002115	P01911	2B1F_HUMAN			3	512	-			157			Ig-like C1-type.|Beta-2.|Extracellular (Potential).		P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	c.469G>A	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	16.76	3.212425	0.58452	.	.	ENSG00000196126	ENST00000360004	T	0.02837	4.14	3.87	0.637	0.17735	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.302982	0.37669	N	0.001987	T	0.01730	0.0055	N	0.13371	0.34	0.27500	N	0.952009	D	0.76494	0.999	D	0.80764	0.994	T	0.49224	-0.8962	10	0.87932	D	0	.	4.0929	0.09978	0.0:0.3652:0.4249:0.2099	.	157	P01911	2B1F_HUMAN	K	157	ENSP00000353099:E157K	ENSP00000353099:E157K	E	-	1	0	HLA-DRB1	32657495	0.002000	0.14202	0.544000	0.28141	0.823000	0.46562	0.148000	0.16224	0.708000	0.31955	0.453000	0.30009	GAA		PASS	0.547	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		14	67	14	67	---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33139299	33139299	+	Missense_Mutation	SNP	A	A	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:33139299A>T	ENST00000374708.4	-	41	3203	c.2945T>A	c.(2944-2946)gTg>gAg	p.V982E	COL11A2_ENST00000341947.2_Missense_Mutation_p.V1068E|COL11A2_ENST00000374713.1_Missense_Mutation_p.V1021E|COL11A2_ENST00000357486.1_Missense_Mutation_p.V1047E|COL11A2_ENST00000395197.1_Missense_Mutation_p.V1008E|COL11A2_ENST00000374712.1_Missense_Mutation_p.V987E|COL11A2_ENST00000361917.1_Missense_Mutation_p.V961E|COL11A2_ENST00000374714.1_Missense_Mutation_p.V1042E|COL11A2_ENST00000477772.1_Intron	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1068	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.V1068E(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AGGAAGCCCCACAGGACCCTG	0.632																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(3202-3204)GTG>GAG		collagen, type XI, alpha 2 isoform 1							36.0	38.0	37.0					6																	33139299		2203	4300	6503	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33139299A>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2945T>A	6.37:g.33139299A>T	ENSP00000363840:p.Val982Glu					COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.V982E|COL11A2_uc003ocz.1_Missense_Mutation_p.V961E	p.V1068E	NM_080680	NP_542411	P13942	COBA2_HUMAN			43	3431	-			1068			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.3203T>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.003620	0.54254	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	3.79	3.79	0.43588	.	0.000000	0.64402	D	0.000002	D	0.92116	0.7501	L	0.37630	1.12	0.80722	D	1	D;D;D	0.76494	0.991;0.997;0.999	P;D;D	0.81914	0.849;0.943;0.995	D	0.92102	0.5689	10	0.48119	T	0.1	.	10.5475	0.45068	1.0:0.0:0.0:0.0	.	961;982;1068	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	E	982;1068;1047;1042;1021;1008;987;961	ENSP00000363840:V982E;ENSP00000339915:V1068E;ENSP00000350079:V1047E;ENSP00000363846:V1042E;ENSP00000363845:V1021E;ENSP00000378623:V1008E;ENSP00000363844:V987E;ENSP00000355123:V961E	ENSP00000339915:V1068E	V	-	2	0	COL11A2	33247277	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.230000	0.78097	1.585000	0.49928	0.247000	0.18012	GTG		PASS	0.632	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			8	22	8	22	---	---	---	---
ZBTB9	221504	broad.mit.edu	37	6	33422975	33422975	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:33422975C>G	ENST00000395064.2	+	2	366	c.98C>G	c.(97-99)tCt>tGt	p.S33C		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	33					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.S33C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						CATAGCTCGTCTCTGCTGGAA	0.582																																						uc003oeq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)TCT>TGT		zinc finger and BTB domain containing 9							98.0	99.0	99.0					6																	33422975		2203	4300	6503	SO:0001583	missense	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33422975C>G	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.98C>G	6.37:g.33422975C>G	ENSP00000378503:p.Ser33Cys						p.S33C	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN			2	366	+			33					A2AB19	Missense_Mutation	SNP	ENST00000395064.2	37	c.98C>G	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	C	9.441	1.087966	0.20390	.	.	ENSG00000213588	ENST00000395064	T	0.24350	1.86	4.97	3.08	0.35506	BTB/POZ fold (2);	0.734409	0.10584	U	0.657620	T	0.06050	0.0157	N	0.19112	0.55	0.09310	N	1	P	0.45348	0.856	B	0.39419	0.299	T	0.19063	-1.0317	10	0.56958	D	0.05	.	5.9553	0.19269	0.0:0.7058:0.0:0.2942	.	33	Q96C00	ZBTB9_HUMAN	C	33	ENSP00000378503:S33C	ENSP00000378503:S33C	S	+	2	0	ZBTB9	33530953	0.030000	0.19436	0.002000	0.10522	0.374000	0.29953	1.383000	0.34385	0.577000	0.29470	0.563000	0.77884	TCT		PASS	0.582	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		37	56	37	56	---	---	---	---
PEX6	5190	broad.mit.edu	37	6	42932076	42932076	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:42932076G>T	ENST00000304611.8	-	17	3009	c.2940C>A	c.(2938-2940)tgC>tgA	p.C980*	PEX6_ENST00000244546.4_3'UTR	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	980					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.C980*(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GGGGCTCCTAGCAGGCAGCAA	0.637																																						uc003otf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(2938-2940)TGC>TGA		peroxisomal biogenesis factor 6							33.0	36.0	35.0					6																	42932076		2202	4298	6500	SO:0001587	stop_gained	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42932076G>T	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.2940C>A	6.37:g.42932076G>T	ENSP00000303511:p.Cys980*					uc003ote.1_5'Flank|PEX6_uc010jya.2_RNA	p.C980*	NM_000287	NP_000278	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		17	3033	-			980					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Nonsense_Mutation	SNP	ENST00000304611.8	37	c.2940C>A	CCDS4877.1	.	.	.	.	.	.	.	.	.	.	G	37	6.125457	0.97305	.	.	ENSG00000124587	ENST00000304611	.	.	.	5.43	3.64	0.41730	.	0.560204	0.22278	N	0.062176	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	6.5195	0.22266	0.1553:0.0:0.7019:0.1428	.	.	.	.	X	980	.	ENSP00000303511:C980X	C	-	3	2	PEX6	43040054	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	2.353000	0.44089	1.299000	0.44798	-0.137000	0.14449	TGC		PASS	0.637	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		6	31	6	31	---	---	---	---
AARS2	57505	broad.mit.edu	37	6	44279966	44279966	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:44279966C>T	ENST00000244571.4	-	2	280	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial									p.R93Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CATCTCGCTTCGTGGATCCAC	0.542																																						uc010jza.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(277-279)CGA>CAA		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						102.0	78.0	86.0					6																	44279966		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44279966C>T	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.278G>A	6.37:g.44279966C>T	ENSP00000244571:p.Arg93Gln					SPATS1_uc003oxg.2_Intron	p.R93Q	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	281	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		93						Missense_Mutation	SNP	ENST00000244571.4	37	c.278G>A	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	C	32	5.108833	0.94292	.	.	ENSG00000124608	ENST00000244571	T	0.63580	-0.05	4.9	4.9	0.64082	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66346	0.2780	L	0.49455	1.56	0.52501	D	0.999953	D	0.89917	1.0	D	0.72625	0.978	T	0.65376	-0.6183	10	0.41790	T	0.15	-6.8967	13.9527	0.64129	0.0:0.8482:0.1518:0.0	.	93	Q5JTZ9	SYAM_HUMAN	Q	93	ENSP00000244571:R93Q	ENSP00000244571:R93Q	R	-	2	0	AARS2	44387944	0.995000	0.38212	1.000000	0.80357	0.964000	0.63967	2.490000	0.45294	2.540000	0.85666	0.436000	0.28706	CGA		PASS	0.542	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		24	46	24	46	---	---	---	---
CYP39A1	51302	broad.mit.edu	37	6	46620210	46620210	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:46620210G>T	ENST00000275016.2	-	1	313	c.110C>A	c.(109-111)cCt>cAt	p.P37H	SLC25A27_ENST00000411689.2_5'Flank|SLC25A27_ENST00000371347.5_5'Flank|SLC25A27_ENST00000452689.2_5'Flank	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	37					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)	p.P37H(1)	EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TCCAATCCAAGGAATCCAGCC	0.483																																						uc003oyf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(109-111)CCT>CAT		cytochrome P450, family 39, subfamily A,							212.0	231.0	224.0					6																	46620210		2203	4300	6503	SO:0001583	missense	51302				bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr6:46620210G>T	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.110C>A	6.37:g.46620210G>T	ENSP00000275016:p.Pro37His					CYP39A1_uc011dwa.1_Missense_Mutation_p.P37H|CYP39A1_uc010jzd.1_5'UTR|SLC25A27_uc011dwb.1_5'Flank|SLC25A27_uc003oyg.2_5'Flank|SLC25A27_uc003oyh.2_5'Flank|SLC25A27_uc011dwc.1_5'Flank	p.P37H	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN			1	314	-			37					Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	c.110C>A	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530755	0.85706	.	.	ENSG00000146233	ENST00000275016	T	0.74209	-0.82	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000001	D	0.83903	0.5355	M	0.71036	2.16	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85130	0.0974	10	0.87932	D	0	-13.5571	18.285	0.90111	0.0:0.0:1.0:0.0	.	37;37	B7Z786;Q9NYL5	.;CP39A_HUMAN	H	37	ENSP00000275016:P37H	ENSP00000275016:P37H	P	-	2	0	CYP39A1	46728169	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.047000	0.76599	2.690000	0.91761	0.655000	0.94253	CCT		PASS	0.483	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			10	381	10	381	---	---	---	---
RHAG	6005	broad.mit.edu	37	6	49587042	49587042	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:49587042C>G	ENST00000371175.4	-	2	217	c.191G>C	c.(190-192)gGg>gCg	p.G64A	RHAG_ENST00000229810.7_Missense_Mutation_p.G64A	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	64					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.G64A(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					GAAGCCAAACCCAACAAATAT	0.418																																					Ovarian(176;476 2003 7720 43408 44749)	uc003ozk.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(190-192)GGG>GCG		Rh-associated glycoprotein							78.0	65.0	69.0					6																	49587042		2203	4300	6503	SO:0001583	missense	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49587042C>G		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.191G>C	6.37:g.49587042C>G	ENSP00000360217:p.Gly64Ala					RHAG_uc010jzl.2_Missense_Mutation_p.G64A|RHAG_uc010jzm.2_Missense_Mutation_p.G64A	p.G64A	NM_000324	NP_000315	Q02094	RHAG_HUMAN			2	253	-	Lung NSC(77;0.0255)		64			Helical; (Potential).		B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	c.191G>C	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979901	0.92982	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.68479	-0.33;-0.33	5.62	5.62	0.85841	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	D	0.85952	0.5817	H	0.94306	3.52	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.993;0.995	D	0.89350	0.3660	10	0.87932	D	0	-13.4032	18.6546	0.91448	0.0:1.0:0.0:0.0	.	64;64;64	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	A	64	ENSP00000360217:G64A;ENSP00000229810:G64A	ENSP00000229810:G64A	G	-	2	0	RHAG	49695001	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.792000	0.85828	2.640000	0.89533	0.591000	0.81541	GGG		PASS	0.418	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			14	12	14	12	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51890331	51890331	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:51890331G>T	ENST00000371117.3	-	32	4552	c.4277C>A	c.(4276-4278)tCg>tAg	p.S1426*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.S1426*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1426	IPT/TIG 9.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.S1426*(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAAAGGACCCGAGAGGTCAAC	0.542																																						uc003pah.1																			2	Substitution - Nonsense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(4276-4278)TCG>TAG		fibrocystin isoform 1							98.0	105.0	103.0					6																	51890331		2203	4300	6503	SO:0001587	stop_gained	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51890331G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.4277C>A	6.37:g.51890331G>T	ENSP00000360158:p.Ser1426*					PKHD1_uc003pai.2_Nonsense_Mutation_p.S1426*	p.S1426*	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			32	4553	-	Lung NSC(77;0.0605)		1426			IPT/TIG 9.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	c.4277C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	42	9.424744	0.99167	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.87	4.1	0.47936	.	0.527164	0.18501	N	0.139356	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	7.4362	0.27156	0.1467:0.0:0.71:0.1433	.	.	.	.	X	1426	.	ENSP00000341097:S1426X	S	-	2	0	PKHD1	51998290	0.004000	0.15560	0.003000	0.11579	0.033000	0.12548	1.180000	0.32005	0.829000	0.34733	0.655000	0.94253	TCG		PASS	0.542	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		6	187	6	187	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55128539	55128539	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:55128539C>G	ENST00000370862.3	+	4	1017	c.681C>G	c.(679-681)ttC>ttG	p.F227L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	227					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.F227L(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACATCTGTTTCTTTCTGGTGA	0.363																																						uc003pcl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6						c.(679-681)TTC>TTG		orexin receptor 2							135.0	112.0	120.0					6																	55128539		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55128539C>G	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.681C>G	6.37:g.55128539C>G	ENSP00000359899:p.Phe227Leu					HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.F162L	p.F227L	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		4	996	+	Lung NSC(77;0.107)|Renal(3;0.122)		227			Helical; Name=5; (Potential).		Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.681C>G	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	C	8.938	0.965196	0.18583	.	.	ENSG00000137252	ENST00000370862	T	0.70986	-0.53	5.75	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.19366	0.0465	N	0.02736	-0.51	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.11329	0.002;0.006	T	0.38585	-0.9654	10	0.02654	T	1	.	6.9245	0.24408	0.0:0.8048:0.0:0.1952	.	227;227	Q548Y0;O43614	.;OX2R_HUMAN	L	227	ENSP00000359899:F227L	ENSP00000359899:F227L	F	+	3	2	HCRTR2	55236498	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.310000	0.43708	2.721000	0.93114	0.603000	0.83216	TTC		PASS	0.363	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			5	5	5	5	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64408187	64408187	+	Missense_Mutation	SNP	G	G	T	rs368044960		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:64408187G>T	ENST00000262043.3	+	7	3095	c.2755G>T	c.(2755-2757)Gct>Tct	p.A919S	PHF3_ENST00000393387.1_Missense_Mutation_p.A919S			Q92576	PHF3_HUMAN	PHD finger protein 3	919					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.A919S(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGCTGCTTCTGCTTCCAAGCC	0.348																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(2755-2757)GCT>TCT		PHD finger protein 3							136.0	136.0	136.0					6																	64408187		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64408187G>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2755G>T	6.37:g.64408187G>T	ENSP00000262043:p.Ala919Ser					PHF3_uc010kag.1_Missense_Mutation_p.A831S|PHF3_uc010kah.1_Missense_Mutation_p.A733S|PHF3_uc003pen.2_Missense_Mutation_p.A831S|PHF3_uc011dxs.1_Missense_Mutation_p.A188S	p.A919S	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		6	2781	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		919					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.2755G>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244648	0.22796	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.37	-6.03	0.02185	Transcription elongation factor S-II, central domain (2);	0.968644	0.08372	N	0.955909	T	0.11024	0.0269	L	0.44542	1.39	0.18873	N	0.999984	B	0.26876	0.162	B	0.24848	0.056	T	0.21827	-1.0234	10	0.17369	T	0.5	-0.021	9.1035	0.36683	0.5645:0.0:0.34:0.0955	.	919	Q92576	PHF3_HUMAN	S	733;188;919;919	ENSP00000424694:A733S;ENSP00000425338:A188S;ENSP00000262043:A919S;ENSP00000377048:A919S	ENSP00000262043:A919S	A	+	1	0	PHF3	64466146	0.100000	0.21855	0.000000	0.03702	0.784000	0.44337	0.472000	0.22116	-1.224000	0.02581	0.484000	0.47621	GCT		PASS	0.348	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			12	71	12	71	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75848583	75848583	+	Silent	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:75848583G>C	ENST00000322507.8	-	28	5361	c.5052C>G	c.(5050-5052)ctC>ctG	p.L1684L	COL12A1_ENST00000483888.2_Silent_p.L1684L|COL12A1_ENST00000345356.6_Silent_p.L520L|COL12A1_ENST00000416123.2_Silent_p.L1684L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1684	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.L1684L(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						TTATTCTGTAGAGAGACACAT	0.423																																						uc003phs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(5050-5052)CTC>CTG		collagen, type XII, alpha 1 long isoform							120.0	118.0	118.0					6																	75848583		1853	4102	5955	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75848583G>C	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.5052C>G	6.37:g.75848583G>C						COL12A1_uc003pht.2_Silent_p.L520L	p.L1684L	NM_004370	NP_004361	Q99715	COCA1_HUMAN			28	5218	-			1684			Fibronectin type-III 12.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.5052C>G	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	1.652	-0.513739	0.04200	.	.	ENSG00000111799	ENST00000419671	T	0.56444	0.46	5.95	2.19	0.27852	.	0.152213	0.44902	D	0.000418	T	0.19485	0.0468	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07424	-1.0773	7	0.16896	T	0.51	.	2.575	0.04804	0.1945:0.2304:0.4565:0.1186	.	.	.	.	V	426	ENSP00000393217:L426V	ENSP00000393217:L426V	L	-	1	2	COL12A1	75905303	0.074000	0.21230	1.000000	0.80357	0.298000	0.27526	-0.677000	0.05215	0.407000	0.25591	0.650000	0.86243	CTA		PASS	0.423	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		6	24	6	24	---	---	---	---
HTR1B	3351	broad.mit.edu	37	6	78172386	78172386	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:78172386G>T	ENST00000369947.2	-	1	1104	c.735C>A	c.(733-735)aaC>aaA	p.N245K		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	245					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.N245K(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGCCGGTCCTGTTGGGCGTCT	0.622																																						uc003pil.1																			1	Substitution - Missense(1)		lung(1)		0						c.(733-735)AAC>AAA		5-hydroxytryptamine (serotonin) receptor 1B	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						55.0	63.0	60.0					6																	78172386		2203	4300	6503	SO:0001583	missense	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78172386G>T	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.735C>A	6.37:g.78172386G>T	ENSP00000358963:p.Asn245Lys						p.N245K	NM_000863	NP_000854	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	735	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	245			Cytoplasmic (By similarity).		Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	c.735C>A	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	G	3.166	-0.171015	0.06421	.	.	ENSG00000135312	ENST00000369947	T	0.37752	1.18	5.3	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.359321	0.30269	N	0.010011	T	0.02380	0.0073	N	0.01091	-1.02	0.21967	N	0.999449	B	0.02656	0.0	B	0.08055	0.003	T	0.41088	-0.9528	9	.	.	.	.	1.6312	0.02733	0.2409:0.1498:0.4721:0.1373	.	245	P28222	5HT1B_HUMAN	K	245	ENSP00000358963:N245K	.	N	-	3	2	HTR1B	78229105	0.434000	0.25570	0.277000	0.24703	0.784000	0.44337	0.090000	0.15025	0.397000	0.25310	0.555000	0.69702	AAC		PASS	0.622	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		21	28	21	28	---	---	---	---
SLC35A1	10559	broad.mit.edu	37	6	88221170	88221170	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:88221170G>T	ENST00000369552.4	+	8	967	c.940G>T	c.(940-942)Gga>Tga	p.G314*	SLC35A1_ENST00000369556.3_Nonsense_Mutation_p.G255*|SLC35A1_ENST00000369557.5_3'UTR|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000544441.1_Nonsense_Mutation_p.G180*|SLC35A1_ENST00000464978.1_3'UTR	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	314					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|CMP-N-acetylneuraminate transport (GO:0015782)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	CMP-N-acetylneuraminate transmembrane transporter activity (GO:0005456)|sugar:proton symporter activity (GO:0005351)	p.G314*(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATATCTCTATGGATTACCCAG	0.383																																					NSCLC(183;214 2117 17033 22638 44782)|Ovarian(87;1008 1343 9644 42916 50932)	uc011dzj.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(940-942)GGA>TGA		solute carrier family 35 (CMP-sialic acid							118.0	106.0	110.0					6																	88221170		2203	4300	6503	SO:0001587	stop_gained	10559				carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr6:88221170G>T	D87969	CCDS5010.1, CCDS55043.1	6q15	2013-05-22			ENSG00000164414	ENSG00000164414		"""Solute carriers"""	11021	protein-coding gene	gene with protein product		605634	"""solute carrier family 35 (UDP-galactose transporter), member 1"""			9010752, 9644260	Standard	NM_006416		Approved	CMPST, hCST	uc011dzj.2	P78382	OTTHUMG00000015177	ENST00000369552.4:c.940G>T	6.37:g.88221170G>T	ENSP00000358565:p.Gly314*					SLC35A1_uc003plx.2_RNA|SLC35A1_uc010kbw.2_Nonsense_Mutation_p.G162*|SLC35A1_uc003plz.2_RNA|SLC35A1_uc011dzi.1_Nonsense_Mutation_p.G180*|SLC35A1_uc003ply.2_RNA|SLC35A1_uc010kbx.2_Nonsense_Mutation_p.G255*|SLC35A1_uc010kby.2_RNA	p.G314*	NM_006416	NP_006407	P78382	S35A1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	8	1019	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	314			Helical; (Potential).		Q5W1L8	Nonsense_Mutation	SNP	ENST00000369552.4	37	c.940G>T	CCDS5010.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575462	0.86645	.	.	ENSG00000164414	ENST00000369556;ENST00000544441;ENST00000369552	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-29.7119	20.2147	0.98293	0.0:0.0:1.0:0.0	.	.	.	.	X	255;180;314	.	ENSP00000358565:G314X	G	+	1	0	SLC35A1	88277889	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.906000	0.92626	2.785000	0.95823	0.591000	0.81541	GGA		PASS	0.383	SLC35A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041446.1			5	58	5	58	---	---	---	---
MCHR2	84539	broad.mit.edu	37	6	100403965	100403965	+	Nonsense_Mutation	SNP	C	C	T	rs200046774		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:100403965C>T	ENST00000281806.2	-	2	373	c.59G>A	c.(58-60)tGg>tAg	p.W20*	MCHR2_ENST00000369212.2_Nonsense_Mutation_p.W20*	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W20*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTCTTTATTCCAGGATTTGTT	0.423																																						uc003pqh.1																			1	Substitution - Nonsense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8						c.(58-60)TGG>TAG		melanin-concentrating hormone receptor 2							140.0	140.0	140.0					6																	100403965		2203	4300	6503	SO:0001587	stop_gained	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100403965C>T	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.59G>A	6.37:g.100403965C>T	ENSP00000281806:p.Trp20*					MCHR2_uc003pqi.1_Nonsense_Mutation_p.W20*	p.W20*	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	2	374	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	20			Extracellular (Potential).		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Nonsense_Mutation	SNP	ENST00000281806.2	37	c.59G>A	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775534	0.31411	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	.	.	.	4.86	-0.302	0.12796	.	1.387120	0.04799	N	0.433114	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	4.7503	0.13057	0.2591:0.5024:0.0:0.2385	.	.	.	.	X	20	.	ENSP00000281806:W20X	W	-	2	0	MCHR2	100510686	0.001000	0.12720	0.012000	0.15200	0.074000	0.17049	0.188000	0.17018	-0.058000	0.13177	-0.258000	0.10820	TGG		PASS	0.423	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		20	41	20	41	---	---	---	---
POPDC3	64208	broad.mit.edu	37	6	105609460	105609460	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:105609460G>T	ENST00000254765.3	-	2	603	c.325C>A	c.(325-327)Caa>Aaa	p.Q109K	BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA|POPDC3_ENST00000474760.1_Intron	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	109					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)		p.Q109K(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TACAACACTTGGAATTCTCGG	0.423																																						uc003prb.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(325-327)CAA>AAA		popeye protein 3							159.0	170.0	166.0					6																	105609460		2203	4300	6503	SO:0001583	missense	64208					integral to membrane		g.chr6:105609460G>T	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.325C>A	6.37:g.105609460G>T	ENSP00000254765:p.Gln109Lys					uc003pqz.2_Intron|POPDC3_uc003pra.2_Intron	p.Q109K	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN			2	727	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)	109					B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	ENST00000254765.3	37	c.325C>A	CCDS5052.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959789	0.53400	.	.	ENSG00000132429	ENST00000254765	T	0.39229	1.09	5.72	4.82	0.62117	.	0.109900	0.64402	D	0.000006	T	0.23249	0.0562	L	0.46157	1.445	0.45261	D	0.998269	B	0.26708	0.157	B	0.25614	0.062	T	0.03212	-1.1060	10	0.22706	T	0.39	-17.1856	16.1476	0.81580	0.0:0.0:0.8661:0.1339	.	109	Q9HBV1	POPD3_HUMAN	K	109	ENSP00000254765:Q109K	ENSP00000254765:Q109K	Q	-	1	0	POPDC3	105716153	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.565000	0.60836	2.704000	0.92352	0.655000	0.94253	CAA		PASS	0.423	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		9	249	9	249	---	---	---	---
FOXO3	2309	broad.mit.edu	37	6	108985287	108985287	+	Silent	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:108985287C>A	ENST00000343882.6	+	3	1555	c.1251C>A	c.(1249-1251)acC>acA	p.T417T	FOXO3_ENST00000406360.1_Silent_p.T417T|FOXO3_ENST00000540898.1_Silent_p.T197T	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	417					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|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 translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T417T(1)		central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		TCCCGTATACCACCAAGGGCT	0.597																																						uc003psk.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|lung(2)	6						c.(1249-1251)ACC>ACA		forkhead box O3A							62.0	66.0	65.0					6																	108985287		2203	4300	6503	SO:0001819	synonymous_variant	2309				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:108985287C>A	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.1251C>A	6.37:g.108985287C>A						FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Silent_p.T417T|FOXO3_uc011ean.1_Silent_p.T197T|FOXO3_uc010kdj.1_Silent_p.T197T	p.T417T	NM_201559	NP_963853	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	3	1567	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	417					B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Silent	SNP	ENST00000343882.6	37	c.1251C>A	CCDS5068.1																																																																																				PASS	0.597	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			6	84	6	84	---	---	---	---
NCOA7	135112	broad.mit.edu	37	6	126206390	126206390	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:126206390G>T	ENST00000368357.3	+	9	1137	c.785G>T	c.(784-786)gGg>gTg	p.G262V	NCOA7_ENST00000229634.9_Missense_Mutation_p.G158V|NCOA7_ENST00000392477.2_Missense_Mutation_p.G262V	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	262					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)	p.G262V(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		ATTGAAAATGGGTGTGAGGAG	0.453																																						uc010kes.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(784-786)GGG>GTG		nuclear receptor coactivator 7 isoform 1							330.0	298.0	309.0					6																	126206390		2203	4300	6503	SO:0001583	missense	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126206390G>T	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.785G>T	6.37:g.126206390G>T	ENSP00000357341:p.Gly262Val					NCOA7_uc003qae.3_Missense_Mutation_p.G262V|NCOA7_uc003qah.2_Missense_Mutation_p.G262V|NCOA7_uc003qai.2_Missense_Mutation_p.G262V|NCOA7_uc010ket.2_Missense_Mutation_p.G158V|NCOA7_uc003qag.2_Missense_Mutation_p.G262V	p.G262V	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	10	1234	+			262					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	c.785G>T	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	G	30	5.050328	0.93740	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.61510	1.21;1.21;1.34;0.1	5.7	5.7	0.88788	GRAM (1);	0.048376	0.85682	D	0.000000	T	0.76513	0.3998	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.79135	-0.1928	10	0.87932	D	0	0.2503	19.8351	0.96655	0.0:0.0:1.0:0.0	.	262;262;262	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	V	262;262;158;71	ENSP00000357341:G262V;ENSP00000376269:G262V;ENSP00000229634:G158V;ENSP00000389186:G71V	ENSP00000229634:G158V	G	+	2	0	NCOA7	126248083	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.869000	0.99810	2.687000	0.91594	0.655000	0.94253	GGG		PASS	0.453	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		6	87	6	87	---	---	---	---
MOXD1	26002	broad.mit.edu	37	6	132643820	132643820	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:132643820G>T	ENST00000367963.3	-	8	1421	c.1303C>A	c.(1303-1305)Cca>Aca	p.P435T	MOXD1_ENST00000336749.3_Missense_Mutation_p.P367T|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	435						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.P435T(1)|p.P367T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		ATGCATACTGGTAAGATTGTT	0.333																																						uc003qdf.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1303-1305)CCA>ACA		monooxygenase, DBH-like 1 isoform 2							92.0	94.0	93.0					6																	132643820		2203	4300	6503	SO:0001583	missense	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132643820G>T	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1303C>A	6.37:g.132643820G>T	ENSP00000356940:p.Pro435Thr					MOXD1_uc003qde.2_Missense_Mutation_p.P367T	p.P435T	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	8	1402	-	Breast(56;0.0495)		435			Lumenal (Potential).		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	c.1303C>A	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935985	0.73442	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.78003	-1.14;-1.14	5.78	5.78	0.91487	PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88093	0.6344	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.995;0.999	D	0.88557	0.3120	10	0.87932	D	0	-11.6686	20.0027	0.97425	0.0:0.0:1.0:0.0	.	435;367	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	T	435;367	ENSP00000356940:P435T;ENSP00000336998:P367T	ENSP00000336998:P367T	P	-	1	0	MOXD1	132685513	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	7.842000	0.86851	2.733000	0.93635	0.655000	0.94253	CCA		PASS	0.333	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		8	16	8	16	---	---	---	---
HIVEP2	3097	broad.mit.edu	37	6	143081135	143081135	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:143081135C>G	ENST00000367604.1	-	8	6929	c.6290G>C	c.(6289-6291)aGa>aCa	p.R2097T	HIVEP2_ENST00000367603.2_Missense_Mutation_p.R2097T|HIVEP2_ENST00000012134.2_Missense_Mutation_p.R2097T			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2097	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|Arg-rich.				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.R2097T(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CATCTCTCTTCTCAATGCAGC	0.458																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(6289-6291)AGA>ACA		human immunodeficiency virus type I enhancer							125.0	123.0	124.0					6																	143081135		1907	4122	6029	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143081135C>G	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6290G>C	6.37:g.143081135C>G	ENSP00000356576:p.Arg2097Thr						p.R2097T	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	9	7033	-			2097			10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|Arg-rich.		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.6290G>C	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384972	0.61956	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02472	4.28;4.28;4.28	5.83	5.83	0.93111	.	0.201341	0.53938	D	0.000055	T	0.07728	0.0194	L	0.59436	1.845	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	T	0.49688	-0.8913	10	0.21014	T	0.42	-25.9807	20.127	0.97984	0.0:1.0:0.0:0.0	.	2097	P31629	ZEP2_HUMAN	T	2097	ENSP00000356576:R2097T;ENSP00000356575:R2097T;ENSP00000012134:R2097T	ENSP00000012134:R2097T	R	-	2	0	HIVEP2	143122828	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.512000	0.53407	2.775000	0.95449	0.585000	0.79938	AGA		PASS	0.458	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			10	16	10	16	---	---	---	---
SASH1	23328	broad.mit.edu	37	6	148869683	148869683	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:148869683G>C	ENST00000367467.3	+	20	4208	c.3733G>C	c.(3733-3735)Gag>Cag	p.E1245Q		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1245					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)	p.E1245Q(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCCAGGCCCTGAGGCCATGTA	0.552																																						uc003qme.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(3733-3735)GAG>CAG		SAM and SH3 domain containing 1							54.0	60.0	58.0					6																	148869683		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148869683G>C	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.3733G>C	6.37:g.148869683G>C	ENSP00000356437:p.Glu1245Gln					SASH1_uc003qmf.1_Missense_Mutation_p.E655Q	p.E1245Q	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	20	4208	+		Ovarian(120;0.0169)	1245					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.3733G>C	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456051	0.63401	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	T	0.42900	0.96	5.21	4.35	0.52113	Sterile alpha motif/pointed domain (1);	0.456524	0.22109	N	0.064519	T	0.16727	0.0402	N	0.24115	0.695	0.31433	N	0.672951	P	0.42827	0.791	B	0.40864	0.342	T	0.04178	-1.0971	10	0.72032	D	0.01	-31.7056	11.3905	0.49811	0.0838:0.0:0.9162:0.0	.	1245	O94885	SASH1_HUMAN	Q	1245;655	ENSP00000356437:E1245Q	ENSP00000356437:E1245Q	E	+	1	0	SASH1	148911376	1.000000	0.71417	0.855000	0.33649	0.959000	0.62525	3.583000	0.53928	1.207000	0.43291	-0.137000	0.14449	GAG		PASS	0.552	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		15	43	15	43	---	---	---	---
AKAP12	9590	broad.mit.edu	37	6	151671465	151671465	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:151671465G>T	ENST00000253332.1	+	3	2128	c.1939G>T	c.(1939-1941)Gag>Tag	p.E647*	AKAP12_ENST00000354675.6_Nonsense_Mutation_p.E549*|AKAP12_ENST00000402676.2_Nonsense_Mutation_p.E647*|AKAP12_ENST00000359755.5_Nonsense_Mutation_p.E542*			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	647					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.E647*(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GTCTTCCACCGAGAGCACAGC	0.502																																					Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(1939-1941)GAG>TAG		A kinase (PRKA) anchor protein 12 isoform 1							75.0	71.0	73.0					6																	151671465		2203	4300	6503	SO:0001587	stop_gained	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671465G>T	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1939G>T	6.37:g.151671465G>T	ENSP00000253332:p.Glu647*					AKAP12_uc003qoe.2_Nonsense_Mutation_p.E647*|AKAP12_uc003qof.2_Nonsense_Mutation_p.E549*|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Nonsense_Mutation_p.E542*	p.E647*	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2179	+		Ovarian(120;0.125)	647					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Nonsense_Mutation	SNP	ENST00000253332.1	37	c.1939G>T	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	39	7.497843	0.98322	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	.	.	.	5.52	4.65	0.58169	.	0.181316	0.27035	N	0.021260	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	14.1116	0.65123	0.0728:0.0:0.9272:0.0	.	.	.	.	X	647;647;549;542	.	ENSP00000253332:E647X	E	+	1	0	AKAP12	151713158	1.000000	0.71417	0.823000	0.32752	0.916000	0.54674	5.737000	0.68606	1.332000	0.45431	0.650000	0.86243	GAG		PASS	0.502	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			5	89	5	89	---	---	---	---
CNKSR3	154043	broad.mit.edu	37	6	154744078	154744078	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:154744078C>T	ENST00000607772.1	-	8	1313	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	CNKSR3_ENST00000433165.2_Missense_Mutation_p.E82K|CNKSR3_ENST00000479339.1_Missense_Mutation_p.E177K	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	257	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.E257K(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TGAATGACTTCGTCACCAGCA	0.328																																						uc003qpy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(769-771)GAA>AAA		CNKSR family member 3							56.0	54.0	54.0					6																	154744078		2203	4300	6503	SO:0001583	missense	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154744078C>T	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.769G>A	6.37:g.154744078C>T	ENSP00000475915:p.Glu257Lys						p.E257K	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	8	1274	-		Ovarian(120;0.196)	257			PDZ.		Q5SGD5|Q96N65	Missense_Mutation	SNP	ENST00000607772.1	37	c.769G>A	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	C	35	5.494751	0.96339	.	.	ENSG00000153721	ENST00000367213;ENST00000433165;ENST00000479339;ENST00000454664	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.62	5.62	0.85841	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.41166	0.1147	L	0.50847	1.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.23583	-1.0184	10	0.72032	D	0.01	.	19.6753	0.95930	0.0:1.0:0.0:0.0	.	257	Q6P9H4	CNKR3_HUMAN	K	257;82;177;82	ENSP00000356182:E257K;ENSP00000414185:E82K;ENSP00000418975:E177K;ENSP00000406740:E82K	ENSP00000356182:E257K	E	-	1	0	CNKSR3	154785770	1.000000	0.71417	0.993000	0.49108	0.888000	0.51559	7.487000	0.81328	2.648000	0.89879	0.563000	0.77884	GAA		PASS	0.328	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		7	31	7	31	---	---	---	---
TFB1M	51106	broad.mit.edu	37	6	155579120	155579120	+	Missense_Mutation	SNP	G	G	C	rs199810238	byFrequency	TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:155579120G>C	ENST00000367166.4	-	7	946	c.891C>G	c.(889-891)atC>atG	p.I297M	RP11-477D19.2_ENST00000435295.1_RNA	NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)	p.I297M(1)		lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		TAAAGTGTGAGATGGAGAGCT	0.463																																						uc003qqj.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(889-891)ATC>ATG		transcription factor B1, mitochondrial							115.0	126.0	122.0					6																	155579120		2203	4300	6503	SO:0001583	missense	51106				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr6:155579120G>C	AF151833	CCDS5248.1	6q25.1-q25.3	2011-01-28			ENSG00000029639	ENSG00000029639			17037	protein-coding gene	gene with protein product	"""dimethyladenosine transferase 1, mitochondrial"""	607033				10810093, 11809803	Standard	NM_016020		Approved	mtTFB, CGI-75	uc003qqj.4	Q8WVM0	OTTHUMG00000015881	ENST00000367166.4:c.891C>G	6.37:g.155579120G>C	ENSP00000356134:p.Ile297Met					TFB1M_uc003qqk.2_Intron|uc003qqi.1_5'Flank	p.I297M	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)	7	955	-		Ovarian(120;0.196)	297					Q05DR0|Q9Y384	Missense_Mutation	SNP	ENST00000367166.4	37	c.891C>G	CCDS5248.1	.	.	.	.	.	.	.	.	.	.	G	1.062	-0.672442	0.03403	.	.	ENSG00000029639	ENST00000367166	T	0.32023	1.47	5.76	1.9	0.25705	rRNA adenine dimethylase-like (1);	0.342627	0.32868	N	0.005555	T	0.06645	0.0170	N	0.25031	0.7	0.09310	N	1	B	0.13594	0.008	B	0.19666	0.026	T	0.39603	-0.9606	10	0.22109	T	0.4	-10.3965	9.1941	0.37217	0.15:0.5426:0.3074:0.0	.	297	Q8WVM0	TFB1M_HUMAN	M	297	ENSP00000356134:I297M	ENSP00000356134:I297M	I	-	3	3	TFB1M	155620812	0.006000	0.16342	0.002000	0.10522	0.125000	0.20455	0.038000	0.13862	0.323000	0.23307	0.655000	0.94253	ATC		PASS	0.463	TFB1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042809.1			27	63	27	63	---	---	---	---
TMEM181	57583	broad.mit.edu	37	6	158957791	158957791	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:158957791G>C	ENST00000367090.3	+	1	324	c.313G>C	c.(313-315)Gag>Cag	p.E105Q		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	105					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)	p.E105Q(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		CCCTGCCTTTGAGCCCCCGCT	0.697																																						uc003qrm.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(313-315)GAG>CAG		G protein-coupled receptor 178							13.0	19.0	17.0					6																	158957791		1962	4122	6084	SO:0001583	missense	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:158957791G>C	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.313G>C	6.37:g.158957791G>C	ENSP00000356057:p.Glu105Gln					TMEM181_uc010kjr.1_5'UTR	p.E105Q	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	1	324	+		Breast(66;0.000776)|Ovarian(120;0.0303)	105					Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	c.313G>C	CCDS43520.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.9|28.9	4.957647|4.957647	0.92726|0.92726	.|.	.|.	ENSG00000146433|ENSG00000146433	ENST00000367090|ENST00000314630	.|.	.|.	.|.	4.09|4.09	4.09|4.09	0.47781|0.47781	.|.	0.160715|.	0.42053|.	D|.	0.000770|.	T|T	0.46541|0.46541	0.1398|0.1398	L|L	0.29908|0.29908	0.895|0.895	0.46927|0.46927	D|D	0.999258|0.999258	D|.	0.58970|.	0.984|.	P|.	0.52109|.	0.69|.	T|T	0.56625|0.56625	-0.7948|-0.7948	9|6	0.51188|0.87932	T|D	0.08|0	.|.	14.4685|14.4685	0.67499|0.67499	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	105|.	Q9P2C4|.	TM181_HUMAN|.	Q|F	105|46	.|.	ENSP00000356057:E105Q|ENSP00000323755:L46F	E|L	+|+	1|3	0|2	TMEM181|TMEM181	158877779|158877779	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	4.834000|4.834000	0.62774|0.62774	1.840000|1.840000	0.53500|0.53500	0.561000|0.561000	0.74099|0.74099	GAG|TTG		PASS	0.697	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		3	3	3	3	---	---	---	---
LPA	4018	broad.mit.edu	37	6	160953575	160953575	+	Silent	SNP	A	A	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:160953575A>G	ENST00000316300.5	-	38	5993	c.5949T>C	c.(5947-5949)acT>acC	p.T1983T	LPA_ENST00000447678.1_Silent_p.T1983T			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4491	Kringle 18. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.T1983T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGCAACTGTCAGTGCCTCTGG	0.463																																						uc003qtl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(5947-5949)ACT>ACC		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						79.0	81.0	80.0					6																	160953575		2162	4284	6446	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160953575A>G	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5949T>C	6.37:g.160953575A>G							p.T1983T	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	39	6069	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4491			Peptidase S1.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.5949T>C	CCDS43523.1																																																																																				PASS	0.463	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		11	27	11	27	---	---	---	---
MAP3K4	4216	broad.mit.edu	37	6	161514085	161514085	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:161514085C>A	ENST00000392142.4	+	14	3493	c.3345C>A	c.(3343-3345)ttC>ttA	p.F1115L	MAP3K4_ENST00000366919.2_Missense_Mutation_p.F1115L|MAP3K4_ENST00000366920.2_Missense_Mutation_p.F1115L|MAP3K4_ENST00000348824.7_Missense_Mutation_p.F1115L	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1115					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.F1115L(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAGATGACTTCTTGGTATGGA	0.323																																						uc003qtn.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(3343-3345)TTC>TTA		mitogen-activated protein kinase kinase kinase 4							114.0	103.0	107.0					6																	161514085		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161514085C>A	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3345C>A	6.37:g.161514085C>A	ENSP00000375986:p.Phe1115Leu					MAP3K4_uc010kkc.1_Missense_Mutation_p.F1115L|MAP3K4_uc003qto.2_Missense_Mutation_p.F1115L|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.F568L|MAP3K4_uc003qtp.2_Missense_Mutation_p.F105L	p.F1115L	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	14	3487	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1115					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.3345C>A	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250020	0.80024	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	D;D;D;D	0.84298	-1.61;-1.64;-1.78;-1.83	5.84	4.0	0.46444	.	0.000000	0.85682	D	0.000000	D	0.87597	0.6217	M	0.69823	2.125	0.58432	D	0.999998	D;D;D;D	0.76494	0.998;0.997;0.99;0.999	D;D;D;D	0.87578	0.998;0.917;0.933;0.986	D	0.88117	0.2829	10	0.87932	D	0	-31.906	8.7547	0.34639	0.0:0.757:0.0:0.243	.	1115;105;1115;1115	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	L	1115	ENSP00000355886:F1115L;ENSP00000375986:F1115L;ENSP00000355887:F1115L;ENSP00000297332:F1115L	ENSP00000297332:F1115L	F	+	3	2	MAP3K4	161434075	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.142000	0.31540	0.769000	0.33313	0.655000	0.94253	TTC		PASS	0.323	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			4	20	4	20	---	---	---	---
AGPAT4	56895	broad.mit.edu	37	6	161653130	161653130	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:161653130C>A	ENST00000320285.4	-	2	328	c.116G>T	c.(115-117)tGg>tTg	p.W39L	AGPAT4_ENST00000366905.3_Missense_Mutation_p.W39L|AGPAT4_ENST00000366911.5_Missense_Mutation_p.W39L|AGPAT4_ENST00000457520.2_Missense_Mutation_p.W39L|AGPAT4_ENST00000366908.5_Missense_Mutation_p.W39L|AGPAT4_ENST00000366906.5_Intron	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	39					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.W39L(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GTTAATGGGCCAGAGGAGGAG	0.463																																						uc003qtr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(115-117)TGG>TTG		1-acylglycerol-3-phosphate O-acyltransferase 4							140.0	122.0	128.0					6																	161653130		2203	4300	6503	SO:0001583	missense	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161653130C>A	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.116G>T	6.37:g.161653130C>A	ENSP00000314036:p.Trp39Leu					AGPAT4_uc003qts.1_5'UTR|AGPAT4_uc011egb.1_Missense_Mutation_p.W39L|AGPAT4_uc003qtt.1_RNA|AGPAT4_uc011egc.1_Missense_Mutation_p.W39L|AGPAT4_uc011egd.1_Intron|AGPAT4_uc011ege.1_Missense_Mutation_p.W39L	p.W39L	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	2	343	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	39					B4DSF9|Q5TEF0	Missense_Mutation	SNP	ENST00000320285.4	37	c.116G>T	CCDS5280.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447392	0.63178	.	.	ENSG00000026652	ENST00000366911;ENST00000320285;ENST00000457520;ENST00000366908;ENST00000366905	D	0.90844	-2.74	5.7	5.7	0.88788	.	0.061255	0.64402	D	0.000001	D	0.93413	0.7899	L	0.56124	1.755	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.80764	0.988;0.994;0.975;0.981	D	0.92083	0.5674	10	0.42905	T	0.14	-20.0593	19.8351	0.96655	0.0:1.0:0.0:0.0	.	39;39;39;39	B4DIY1;B4DHC0;B4DSF9;Q9NRZ5	.;.;.;PLCD_HUMAN	L	39	ENSP00000314036:W39L	ENSP00000314036:W39L	W	-	2	0	AGPAT4	161573120	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	7.512000	0.81728	2.693000	0.91896	0.650000	0.86243	TGG		PASS	0.463	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		5	52	5	52	---	---	---	---
MLLT4	4301	broad.mit.edu	37	6	168352586	168352586	+	Silent	SNP	C	C	T	rs141139097	byFrequency	TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:168352586C>T	ENST00000447894.2	+	29	4531	c.4531C>T	c.(4531-4533)Ctg>Ttg	p.L1511L	MLLT4_ENST00000366806.2_Silent_p.L1511L|MLLT4_ENST00000351017.4_Silent_p.L1518L|MLLT4_ENST00000400822.3_Silent_p.L1510L|MLLT4_ENST00000344191.4_Silent_p.L1511L|MLLT4_ENST00000392112.1_Silent_p.L1494L|MLLT4_ENST00000392108.3_Silent_p.L1511L			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1511					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.L1495L(1)|p.L1511L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GGGGGACAGTCTGTCCCCCGA	0.602			T	MLL	AL																																	uc003qwd.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(4528-4530)CTG>TTG		myeloid/lymphoid or mixed-lineage leukemia							32.0	41.0	38.0					6																	168352586		2203	4300	6503	SO:0001819	synonymous_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168352586C>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4531C>T	6.37:g.168352586C>T						MLLT4_uc003qwb.1_Silent_p.L1495L|MLLT4_uc003qwc.1_Silent_p.L1511L|MLLT4_uc003qwg.1_Silent_p.L820L	p.L1510L	NM_001040001	NP_001035090	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	29	4670	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1511					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37	c.4528C>T																																																																																					PASS	0.602	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		14	26	14	26	---	---	---	---
SNX8	29886	broad.mit.edu	37	7	2297430	2297430	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:2297430C>A	ENST00000222990.3	-	8	966	c.924G>T	c.(922-924)caG>caT	p.Q308H		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	308					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.Q308H(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CGTTCTCTTCCTGCTTACCCT	0.612																																						uc003slw.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(922-924)CAG>CAT		sorting nexin 8							261.0	242.0	248.0					7																	2297430		2203	4300	6503	SO:0001583	missense	29886				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding	g.chr7:2297430C>A	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.924G>T	7.37:g.2297430C>A	ENSP00000222990:p.Gln308His						p.Q308H	NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)	8	967	-		Ovarian(82;0.11)	308					A4D207|Q96I67	Missense_Mutation	SNP	ENST00000222990.3	37	c.924G>T	CCDS5331.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378419	0.24944	.	.	ENSG00000106266	ENST00000222990	T	0.22945	1.93	5.32	4.44	0.53790	.	0.136447	0.51477	D	0.000098	T	0.16514	0.0397	N	0.14661	0.345	0.37404	D	0.912964	B	0.16802	0.019	B	0.19946	0.027	T	0.08046	-1.0741	10	0.30078	T	0.28	.	13.7375	0.62827	0.0:0.9258:0.0:0.0742	.	308	Q9Y5X2	SNX8_HUMAN	H	308	ENSP00000222990:Q308H	ENSP00000222990:Q308H	Q	-	3	2	SNX8	2263956	1.000000	0.71417	0.976000	0.42696	0.587000	0.36485	1.517000	0.35867	1.236000	0.43740	0.650000	0.86243	CAG		PASS	0.612	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			9	346	9	346	---	---	---	---
MMD2	221938	broad.mit.edu	37	7	4959907	4959907	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:4959907T>C	ENST00000404774.3	-	3	379	c.185A>G	c.(184-186)gAt>gGt	p.D62G	MMD2_ENST00000401401.3_Missense_Mutation_p.D62G|MMD2_ENST00000406755.1_Missense_Mutation_p.D62G	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	62						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.D62G(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CTCCCAGTCATCGTCCGACAG	0.617																																						uc003sno.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(184-186)GAT>GGT		monocyte to macrophage							52.0	59.0	57.0					7																	4959907		2116	4228	6344	SO:0001583	missense	221938					integral to membrane	receptor activity	g.chr7:4959907T>C	BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.185A>G	7.37:g.4959907T>C	ENSP00000384690:p.Asp62Gly					MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.D62G|MMD2_uc010ksq.2_Missense_Mutation_p.D62G	p.D62G	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)	3	381	-		Ovarian(82;0.0175)	62			Extracellular (Potential).		B5MBW4|Q6NVU5|Q6TCH0	Missense_Mutation	SNP	ENST00000404774.3	37	c.185A>G	CCDS47529.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.857437	0.51376	.	.	ENSG00000136297	ENST00000404774;ENST00000406755;ENST00000401401	T;T;T	0.30981	1.51;1.51;1.51	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.48926	0.1527	M	0.63843	1.955	0.58432	D	0.999996	D;D;P	0.59767	0.974;0.986;0.73	P;D;B	0.65323	0.904;0.934;0.312	T	0.47699	-0.9097	10	0.46703	T	0.11	-31.3807	13.0451	0.58922	0.0:0.0:0.0:1.0	.	62;62;62	B5MBW4;Q8IY49;Q8IY49-2	.;PAQRA_HUMAN;.	G	62	ENSP00000384690:D62G;ENSP00000385963:D62G;ENSP00000384141:D62G	ENSP00000384141:D62G	D	-	2	0	MMD2	4926433	0.998000	0.40836	0.241000	0.24154	0.224000	0.24922	5.623000	0.67757	1.856000	0.53863	0.459000	0.35465	GAT		PASS	0.617	MMD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324136.1	NM_198403		15	5	15	5	---	---	---	---
ZDHHC4	55146	broad.mit.edu	37	7	6628525	6628525	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:6628525G>T	ENST00000396706.2	+	8	1462	c.1019G>T	c.(1018-1020)aGg>aTg	p.R340M	C7orf26_ENST00000344417.5_5'Flank|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.R340M|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.R340M|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.R340M|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.R340M|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.R340M|C7orf26_ENST00000359073.5_5'Flank|AC079742.4_ENST00000434951.1_RNA			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	340						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.R340M(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGTCATGAGAGGAAGAAACAA	0.473																																						uc003sqi.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|pancreas(1)	2						c.(1018-1020)AGG>ATG		zinc finger, DHHC-type containing 4							116.0	116.0	116.0					7																	6628525		2203	4300	6503	SO:0001583	missense	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6628525G>T	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"""Zinc fingers, DHHC-type"""	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.1019G>T	7.37:g.6628525G>T	ENSP00000379934:p.Arg340Met					ZDHHC4_uc003sql.2_Missense_Mutation_p.R340M|ZDHHC4_uc003sqh.2_Missense_Mutation_p.R340M|ZDHHC4_uc003sqj.2_Missense_Mutation_p.R340M|ZDHHC4_uc003sqk.2_Missense_Mutation_p.R340M|ZDHHC4_uc003sqm.2_Missense_Mutation_p.R340M|uc011jwy.1_5'Flank|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank|C7orf26_uc003sqq.1_5'Flank	p.R340M	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	9	1377	+		Ovarian(82;0.232)	340					A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Missense_Mutation	SNP	ENST00000396706.2	37	c.1019G>T	CCDS5352.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.749543	0.49257	.	.	ENSG00000136247	ENST00000405731;ENST00000396713;ENST00000396707;ENST00000335965;ENST00000396709;ENST00000396706	T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22	4.75	-1.64	0.08318	.	0.432035	0.26590	N	0.023539	T	0.23649	0.0572	L	0.51422	1.61	0.18873	N	0.999981	P	0.39964	0.697	B	0.38500	0.275	T	0.15206	-1.0445	10	0.62326	D	0.03	-30.5229	1.0757	0.01632	0.4557:0.1599:0.2223:0.1621	.	340	Q9NPG8	ZDHC4_HUMAN	M	340	ENSP00000385027:R340M;ENSP00000379941:R340M;ENSP00000379935:R340M;ENSP00000337475:R340M;ENSP00000379937:R340M;ENSP00000379934:R340M	ENSP00000337475:R340M	R	+	2	0	ZDHHC4	6595050	0.887000	0.30362	0.002000	0.10522	0.050000	0.14768	1.038000	0.30254	-0.127000	0.11661	-0.176000	0.13171	AGG		PASS	0.473	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106		10	250	10	250	---	---	---	---
AHR	196	broad.mit.edu	37	7	17378616	17378616	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:17378616G>T	ENST00000242057.4	+	10	1810	c.1167G>T	c.(1165-1167)gaG>gaT	p.E389D	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	389					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.E389D(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	TTAGAGATGAGGAAGGAACAG	0.303																																						uc011jxz.1																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|kidney(1)|pancreas(1)	3						c.(1165-1167)GAG>GAT		aryl hydrocarbon receptor precursor							91.0	97.0	95.0					7																	17378616		2203	4300	6503	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17378616G>T	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1167G>T	7.37:g.17378616G>T	ENSP00000242057:p.Glu389Asp					AHR_uc003stt.3_RNA	p.E389D	NM_001621	NP_001612	P35869	AHR_HUMAN			10	1780	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		389					A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.1167G>T	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495194	0.44352	.	.	ENSG00000106546	ENST00000242057	T	0.07114	3.22	6.07	2.49	0.30216	.	0.000000	0.85682	D	0.000000	T	0.28896	0.0717	M	0.90542	3.125	0.53005	D	0.999964	D	0.67145	0.996	P	0.62885	0.908	T	0.02698	-1.1122	10	0.66056	D	0.02	.	9.422	0.38557	0.7964:0.0:0.2036:0.0	.	389	P35869	AHR_HUMAN	D	389	ENSP00000242057:E389D	ENSP00000242057:E389D	E	+	3	2	AHR	17345141	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	3.231000	0.51294	0.193000	0.20303	-0.302000	0.09304	GAG		PASS	0.303	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		6	113	6	113	---	---	---	---
HOXA11	3207	broad.mit.edu	37	7	27224653	27224653	+	Silent	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:27224653G>T	ENST00000006015.3	-	1	182	c.111C>A	c.(109-111)acC>acA	p.T37T	HOXA11-AS_ENST00000522674.1_RNA|HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000479766.1_RNA|HOXA11-AS_ENST00000520360.1_RNA|RP1-170O19.14_ENST00000523331.1_lincRNA|HOXA11-AS_ENST00000522863.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	37					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)	p.T37T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GCGAAGACGGGGTCTGGGGCA	0.562			T	NUP98	CML						OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003syx.2				Dom	yes		7	7p15-p14.2	3207	T	homeo box A11			L	NUP98		CML		1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)	2						c.(109-111)ACC>ACA		homeobox A11							80.0	91.0	87.0					7																	27224653		2203	4300	6503	SO:0001819	synonymous_variant	3207				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27224653G>T		CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.111C>A	7.37:g.27224653G>T			OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOXA11_uc003syy.2_Intron|HOXA11AS_uc003syz.1_5'Flank	p.T37T	NM_005523	NP_005514	P31270	HXA11_HUMAN			1	183	-			37					A4D190	Silent	SNP	ENST00000006015.3	37	c.111C>A	CCDS5411.1																																																																																				PASS	0.562	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1			49	44	49	44	---	---	---	---
MYO1G	64005	broad.mit.edu	37	7	45016187	45016187	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:45016187G>T	ENST00000258787.7	-	3	510	c.374C>A	c.(373-375)cCa>cAa	p.P125Q		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	125	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P125Q(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CCTCTGGCTTGGATTGGTGAC	0.597																																						uc003tmh.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|pancreas(1)	4						c.(373-375)CCA>CAA		myosin IG							172.0	131.0	145.0					7																	45016187		2203	4300	6503	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45016187G>T	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.374C>A	7.37:g.45016187G>T	ENSP00000258787:p.Pro125Gln					MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Missense_Mutation_p.P10Q|MYO1G_uc003tmi.1_Missense_Mutation_p.P37Q|MYO1G_uc003tmj.2_5'UTR	p.P125Q	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN			3	518	-			125			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.374C>A	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707453	0.68615	.	.	ENSG00000136286	ENST00000258787	D	0.86627	-2.15	4.2	4.2	0.49525	Myosin head, motor domain (2);	0.000000	0.37012	N	0.002287	D	0.87505	0.6194	L	0.27053	0.805	0.80722	D	1	D;P	0.76494	0.999;0.599	D;B	0.75484	0.986;0.345	T	0.83134	-0.0112	10	0.11485	T	0.65	.	15.6506	0.77088	0.0:0.0:1.0:0.0	.	125;125	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	Q	125	ENSP00000258787:P125Q	ENSP00000258787:P125Q	P	-	2	0	MYO1G	44982712	1.000000	0.71417	0.957000	0.39632	0.908000	0.53690	9.419000	0.97397	2.342000	0.79632	0.655000	0.94253	CCA		PASS	0.597	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			5	61	5	61	---	---	---	---
SEC61G	23480	broad.mit.edu	37	7	54823496	54823496	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:54823496T>C	ENST00000415949.1	-	4	539	c.173A>G	c.(172-174)cAt>cGt	p.H58R	SEC61G_ENST00000352861.4_Missense_Mutation_p.H58R|SEC61G_ENST00000450622.1_Missense_Mutation_p.H58R|SEC61G_ENST00000395535.3_Missense_Mutation_p.H58R			P60059	SC61G_HUMAN	Sec61 gamma subunit	58					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)|protein transporter activity (GO:0008565)	p.H58R(1)		kidney(1)|lung(5)	6	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)			AATAGGAATATGGATCAATTT	0.323																																						uc003tqf.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(172-174)CAT>CGT		Sec61 gamma subunit							89.0	88.0	88.0					7																	54823496		2203	4300	6503	SO:0001583	missense	23480				protein targeting to ER	endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr7:54823496T>C	AF086539	CCDS5513.1	7p11.2	2014-05-19			ENSG00000132432	ENSG00000132432			18277	protein-coding gene	gene with protein product		609215				8107851, 10212142	Standard	NM_014302		Approved	SSS1	uc003tqg.3	P60059	OTTHUMG00000023430	ENST00000415949.1:c.173A>G	7.37:g.54823496T>C	ENSP00000388337:p.His58Arg					SEC61G_uc003tqg.2_Missense_Mutation_p.H58R	p.H58R	NM_001012456	NP_001012474	P60059	SC61G_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)		3	264	-	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		58			Helical; (Potential).		B2R4J0|P38384|Q6IB25	Missense_Mutation	SNP	ENST00000415949.1	37	c.173A>G	CCDS5513.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390125	0.82902	.	.	ENSG00000132432	ENST00000395535;ENST00000352861;ENST00000415949;ENST00000450622	.	.	.	5.57	5.57	0.84162	Protein translocase SecE domain (2);	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81413	-0.0944	8	0.66056	D	0.02	-5.003	13.6748	0.62447	0.0:0.0:0.0:1.0	.	58	P60059	SC61G_HUMAN	R	58	.	ENSP00000341538:H58R	H	-	2	0	SEC61G	54790990	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.404000	0.79996	2.126000	0.65437	0.528000	0.53228	CAT		PASS	0.323	SEC61G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251384.2	NM_014302		12	113	12	113	---	---	---	---
LANCL2	55915	broad.mit.edu	37	7	55493093	55493093	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:55493093G>T	ENST00000254770.2	+	7	1733	c.1155G>T	c.(1153-1155)caG>caT	p.Q385H		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	385					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.Q385H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GTCTCACGCAGGATAAGAAGT	0.537																																						uc003tqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1153-1155)CAG>CAT		LanC lantibiotic synthetase component C-like 2							168.0	150.0	156.0					7																	55493093		2203	4300	6503	SO:0001583	missense	55915				negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	g.chr7:55493093G>T	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.1155G>T	7.37:g.55493093G>T	ENSP00000254770:p.Gln385His						p.Q385H	NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)		7	1733	+	Breast(14;0.0379)		385					B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	c.1155G>T	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809278	0.70797	.	.	ENSG00000132434	ENST00000254770	T	0.43294	0.95	5.37	4.5	0.54988	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.111526	0.64402	D	0.000005	T	0.37705	0.1013	L	0.50919	1.6	0.45183	D	0.998194	B	0.27140	0.169	B	0.31191	0.125	T	0.23440	-1.0188	10	0.44086	T	0.13	.	9.7608	0.40530	0.1596:0.0:0.8404:0.0	.	385	Q9NS86	LANC2_HUMAN	H	385	ENSP00000254770:Q385H	ENSP00000254770:Q385H	Q	+	3	2	LANCL2	55460587	1.000000	0.71417	0.678000	0.29963	0.857000	0.48899	3.128000	0.50492	1.409000	0.46915	-0.232000	0.12228	CAG		PASS	0.537	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697		10	327	10	327	---	---	---	---
SEPT14	346288	broad.mit.edu	37	7	55863741	55863741	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:55863741C>G	ENST00000388975.3	-	10	1280	c.1164G>C	c.(1162-1164)gaG>gaC	p.E388D		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	388					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.E177D(1)|p.E388D(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCTTCCTTATCTCCTCCTGTT	0.438																																						uc003tqz.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1162-1164)GAG>GAC		septin 14							21.0	26.0	24.0					7																	55863741		1183	2187	3370	SO:0001583	missense	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55863741C>G	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.1164G>C	7.37:g.55863741C>G	ENSP00000373627:p.Glu388Asp						p.E388D	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		10	1281	-	Breast(14;0.214)		388			Potential.		A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.1164G>C	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	.	15.36	2.809304	0.50421	.	.	ENSG00000154997	ENST00000388975	D	0.82167	-1.58	1.32	1.32	0.21799	.	0.466636	0.18490	N	0.139662	D	0.84365	0.5456	M	0.75777	2.31	0.35778	D	0.821419	P	0.51351	0.944	P	0.54889	0.763	D	0.84639	0.0694	10	0.59425	D	0.04	.	3.6569	0.08223	0.0:0.7575:0.0:0.2425	.	388	Q6ZU15	SEP14_HUMAN	D	388	ENSP00000373627:E388D	ENSP00000373627:E388D	E	-	3	2	SEPT14	55831235	0.997000	0.39634	0.821000	0.32701	0.200000	0.23975	0.568000	0.23623	1.048000	0.40298	0.298000	0.19748	GAG		PASS	0.438	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		62	24	62	24	---	---	---	---
DBF4	10926	broad.mit.edu	37	7	87526637	87526637	+	Missense_Mutation	SNP	G	G	T	rs202195167	byFrequency	TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:87526637G>T	ENST00000265728.1	+	8	1167	c.663G>T	c.(661-663)aaG>aaT	p.K221N		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	221					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K221N(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CTTTTGTAAAGGTGGAAGATA	0.313																																						uc003ujf.1																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(661-663)AAG>AAT		activator of S phase kinase							187.0	203.0	198.0					7																	87526637		2203	4298	6501	SO:0001583	missense	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87526637G>T	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.663G>T	7.37:g.87526637G>T	ENSP00000265728:p.Lys221Asn					DBF4_uc003ujh.1_Translation_Start_Site|DBF4_uc003ujg.1_Translation_Start_Site|DBF4_uc011khf.1_Intron	p.K221N	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN			8	1167	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	221					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	c.663G>T	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480486	0.63849	.	.	ENSG00000006634	ENST00000265728	T	0.14391	2.51	5.88	0.0404	0.14209	.	0.000000	0.85682	D	0.000000	T	0.31071	0.0785	M	0.75615	2.305	0.47441	D	0.999427	D	0.89917	1.0	D	0.77004	0.989	T	0.01829	-1.1265	10	0.59425	D	0.04	-12.0447	9.2644	0.37632	0.4138:0.0:0.5862:0.0	.	221	Q9UBU7	DBF4A_HUMAN	N	221	ENSP00000265728:K221N	ENSP00000265728:K221N	K	+	3	2	DBF4	87364573	0.999000	0.42202	0.963000	0.40424	0.971000	0.66376	0.304000	0.19228	-0.063000	0.13065	-0.216000	0.12614	AAG		PASS	0.313	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		9	245	9	245	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91726596	91726596	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:91726596G>T	ENST00000359028.2	+	41	10560	c.10335G>T	c.(10333-10335)caG>caT	p.Q3445H	AKAP9_ENST00000356239.3_Missense_Mutation_p.Q3441H|AKAP9_ENST00000358100.2_Missense_Mutation_p.Q3391H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3445					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.Q3445H(1)|p.Q3441H(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAATCATGCAGGAATTCCAGA	0.393			T	BRAF	papillary thyroid																																	uc003ulg.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(10321-10323)CAG>CAT		A-kinase anchor protein 9 isoform 2							34.0	35.0	34.0					7																	91726596		2202	4300	6502	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91726596G>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.10335G>T	7.37:g.91726596G>T	ENSP00000351922:p.Gln3445His					AKAP9_uc003ulf.2_Missense_Mutation_p.Q3433H|AKAP9_uc003uli.2_Missense_Mutation_p.Q3064H|AKAP9_uc003ulj.2_Missense_Mutation_p.Q1211H|AKAP9_uc003ull.2_Missense_Mutation_p.Q337H	p.Q3441H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		41	10548	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3445			Potential.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.10323G>T		.	.	.	.	.	.	.	.	.	.	G	13.31	2.198693	0.38806	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03831	3.89;3.89;3.9;3.79	5.47	2.66	0.31614	.	0.000000	0.39544	N	0.001328	T	0.06826	0.0174	M	0.73598	2.24	0.31676	N	0.643723	B;B;B;B;B	0.26258	0.145;0.058;0.02;0.033;0.033	B;B;B;B;B	0.21546	0.032;0.035;0.016;0.035;0.035	T	0.04203	-1.0969	10	0.56958	D	0.05	.	5.6355	0.17534	0.2544:0.0:0.6107:0.135	.	716;3445;3445;3441;3433	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	H	3441;3445;3391;3445;1287	ENSP00000348573:Q3441H;ENSP00000351922:Q3445H;ENSP00000350813:Q3391H;ENSP00000378042:Q1287H	ENSP00000348573:Q3441H	Q	+	3	2	AKAP9	91564532	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.986000	0.40677	0.356000	0.24157	-0.181000	0.13052	CAG		PASS	0.393	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		7	104	7	104	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98508832	98508832	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:98508832G>T	ENST00000359863.4	+	17	2154	c.1945G>T	c.(1945-1947)Gaa>Taa	p.E649*	TRRAP_ENST00000446306.3_Nonsense_Mutation_p.E648*|TRRAP_ENST00000355540.3_Nonsense_Mutation_p.E649*	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	649					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.E649*(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AACGTTCAAAGAAATCTTCCA	0.403																																						uc003upp.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(1945-1947)GAA>TAA		transformation/transcription domain-associated							118.0	111.0	113.0					7																	98508832		2203	4300	6503	SO:0001587	stop_gained	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98508832G>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.1945G>T	7.37:g.98508832G>T	ENSP00000352925:p.Glu649*					TRRAP_uc011kis.1_Nonsense_Mutation_p.E649*|TRRAP_uc003upr.2_Nonsense_Mutation_p.E341*	p.E649*	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		17	2154	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		649					A4D265|O75218|Q9Y631|Q9Y6H4	Nonsense_Mutation	SNP	ENST00000359863.4	37	c.1945G>T	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	9.891014|9.891014	0.99289|0.99289	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	.|T	.|0.44881	.|0.91	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.59390	.|0.2190	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.47686	.|-0.9098	.|5	0.87932|0.30854	D|T	0|0.27	.|.	20.422|20.422	0.99049|0.99049	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	649;649;647|363	.|ENSP00000394645:K363N	ENSP00000347733:E649X|ENSP00000394645:K363N	E|K	+|+	1|3	0|2	TRRAP|TRRAP	98346768|98346768	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.869000|9.869000	0.99810|0.99810	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GAA|AAG		PASS	0.403	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		10	106	10	106	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98588092	98588092	+	Missense_Mutation	SNP	G	G	C	rs77396759		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:98588092G>C	ENST00000359863.4	+	63	9827	c.9618G>C	c.(9616-9618)ttG>ttC	p.L3206F	TRRAP_ENST00000446306.3_Missense_Mutation_p.L3177F|TRRAP_ENST00000355540.3_Missense_Mutation_p.L3177F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3206	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.L3177F(1)|p.L3206F(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGTGGCTTTTGAGTTTTGATG	0.473																																						uc003upp.2																			2	Substitution - Missense(2)		lung(2)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(9616-9618)TTG>TTC		transformation/transcription domain-associated							100.0	97.0	98.0					7																	98588092		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98588092G>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9618G>C	7.37:g.98588092G>C	ENSP00000352925:p.Leu3206Phe					TRRAP_uc011kis.1_Missense_Mutation_p.L3177F|TRRAP_uc003upr.2_Missense_Mutation_p.L2894F	p.L3206F	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		63	9827	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3206			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.9618G>C	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.968703|3.968703	0.74131|0.74131	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.05925|.	3.37;3.38|.	5.67|5.67	4.79|4.79	0.61399|0.61399	PIK-related kinase (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|.	0.81356|.	0.4805|.	M|M	0.93550|0.93550	3.43|3.43	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.76575|.	0.988;0.964;0.964|.	D|.	0.85140|.	0.0980|.	10|.	0.72032|.	D|.	0.01|.	.|.	10.9561|10.9561	0.47358|0.47358	0.0702:0.13:0.7999:0.0|0.0702:0.13:0.7999:0.0	.|.	3177;2916;3206|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	F|S	3206;3177;3176|2917	ENSP00000352925:L3206F;ENSP00000347733:L3177F|.	ENSP00000347733:L3177F|.	L|X	+|+	3|2	2|2	TRRAP|TRRAP	98426028|98426028	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.038000|3.038000	0.49783|0.49783	1.396000|1.396000	0.46663|0.46663	0.655000|0.655000	0.94253|0.94253	TTG|TGA		PASS	0.473	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		14	222	14	222	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98601931	98601931	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:98601931G>T	ENST00000359863.4	+	67	10595	c.10386G>T	c.(10384-10386)gaG>gaT	p.E3462D	TRRAP_ENST00000446306.3_Missense_Mutation_p.E3451D|TRRAP_ENST00000355540.3_Missense_Mutation_p.E3433D	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3462					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.E3433D(1)|p.E3462D(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCTCATAGAGGAAAAGTGCC	0.428																																						uc003upp.2																			2	Substitution - Missense(2)		lung(2)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(10384-10386)GAG>GAT		transformation/transcription domain-associated							90.0	100.0	97.0					7																	98601931		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98601931G>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10386G>T	7.37:g.98601931G>T	ENSP00000352925:p.Glu3462Asp					TRRAP_uc011kis.1_Missense_Mutation_p.E3433D|TRRAP_uc003upr.2_Missense_Mutation_p.E3168D	p.E3462D	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		67	10595	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3462					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.10386G>T	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.69|19.69	3.875492|3.875492	0.72180|0.72180	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	D;D|.	0.81659|.	-1.52;-1.52|.	5.46|5.46	1.82|1.82	0.25136|0.25136	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73806|0.73806	0.3634|0.3634	M|M	0.87269|0.87269	2.87|2.87	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.87578|.	0.998;0.97;0.97|.	T|T	0.71550|0.71550	-0.4559|-0.4559	10|5	0.54805|.	T|.	0.06|.	.|.	8.7021|8.7021	0.34332|0.34332	0.611:0.0:0.389:0.0|0.611:0.0:0.389:0.0	.|.	3433;3190;3462|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	D|M	3462;3433;3450|3191	ENSP00000352925:E3462D;ENSP00000347733:E3433D|.	ENSP00000347733:E3433D|.	E|R	+|+	3|2	2|0	TRRAP|TRRAP	98439867|98439867	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	0.767000|0.767000	0.26575|0.26575	0.072000|0.072000	0.16694|0.16694	-0.312000|-0.312000	0.09012|0.09012	GAG|AGG		PASS	0.428	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		15	588	15	588	---	---	---	---
EPHB4	2050	broad.mit.edu	37	7	100404041	100404041	+	Splice_Site	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:100404041C>T	ENST00000358173.3	-	14	2953		c.e14+1		EPHB4_ENST00000360620.3_Splice_Site	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4						angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGACACTTACGTCCTGATTG	0.542																																					GBM(200;2113 3072 25865 52728)	uc003uwn.1																			1	Unknown(1)		lung(1)	lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15						c.e14+1		EPH receptor B4 precursor							176.0	133.0	148.0					7																	100404041		2203	4300	6503	SO:0001630	splice_region_variant	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100404041C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2484+1G>A	7.37:g.100404041C>T						EPHB4_uc003uwm.1_Splice_Site_p.D735_splice|EPHB4_uc010lhj.1_Splice_Site_p.D828_splice	p.D828_splice	NM_004444	NP_004435	P54760	EPHB4_HUMAN			14	2975	-	Lung NSC(181;0.041)|all_lung(186;0.0581)							B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Splice_Site	SNP	ENST00000358173.3	37	c.2484_splice	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631427	0.46944	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5502	0.68059	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPHB4	100241977	1.000000	0.71417	0.976000	0.42696	0.365000	0.29674	7.818000	0.86416	2.021000	0.59480	0.455000	0.32223	.		PASS	0.542	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444	Intron	23	25	23	25	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100679392	100679392	+	Silent	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:100679392C>A	ENST00000306151.4	+	3	4759	c.4695C>A	c.(4693-4695)acC>acA	p.T1565T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1565	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T1565T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCATGCAAACCTCAACTTATA	0.488																																						uc003uxp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4693-4695)ACC>ACA		mucin 17 precursor							266.0	249.0	255.0					7																	100679392		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679392C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4695C>A	7.37:g.100679392C>A						MUC17_uc010lho.1_RNA	p.T1565T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4748	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1565			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|24.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.4695C>A	CCDS34711.1																																																																																				PASS	0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	189	8	189	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100683654	100683654	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:100683654G>A	ENST00000306151.4	+	3	9021	c.8957G>A	c.(8956-8958)aGa>aAa	p.R2986K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2986	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.R2986K(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCGAAAGAAGAACTCCATTA	0.517																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(8956-8958)AGA>AAA		mucin 17 precursor							234.0	244.0	240.0					7																	100683654		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683654G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8957G>A	7.37:g.100683654G>A	ENSP00000302716:p.Arg2986Lys					MUC17_uc010lho.1_RNA	p.R2986K	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	9010	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2986			Extracellular (Potential).|Ser-rich.|48.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8957G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	1.390	-0.581033	0.03854	.	.	ENSG00000169876	ENST00000306151	T	0.01767	4.65	0.49	-0.866	0.10659	.	.	.	.	.	T	0.00784	0.0026	N	0.08118	0	0.09310	N	1	B	0.33494	0.414	B	0.22386	0.039	T	0.47761	-0.9092	8	0.12430	T	0.62	.	.	.	.	.	2986	Q685J3	MUC17_HUMAN	K	2986	ENSP00000302716:R2986K	ENSP00000302716:R2986K	R	+	2	0	MUC17	100470374	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.321000	0.02697	-0.358000	0.08162	0.121000	0.15741	AGA		PASS	0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		101	107	101	107	---	---	---	---
IQUB	154865	broad.mit.edu	37	7	123104992	123104992	+	Silent	SNP	T	T	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:123104992T>C	ENST00000466202.1	-	10	2229	c.1653A>G	c.(1651-1653)ggA>ggG	p.G551G	IQUB_ENST00000434450.1_Silent_p.G551G|IQUB_ENST00000324698.6_Silent_p.G551G	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	551					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.G551G(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GATGTTTGACTCCTCTCATCA	0.323																																						uc003vkn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1651-1653)GGA>GGG		IQ motif and ubiquitin domain containing							146.0	161.0	156.0					7																	123104992		2203	4297	6500	SO:0001819	synonymous_variant	154865							g.chr7:123104992T>C	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1653A>G	7.37:g.123104992T>C						IQUB_uc003vko.2_Silent_p.G551G|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Silent_p.G551G	p.G551G	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			10	2230	-			551					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Silent	SNP	ENST00000466202.1	37	c.1653A>G	CCDS5787.1																																																																																				PASS	0.323	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		4	13	4	13	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131853105	131853105	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:131853105T>C	ENST00000359827.3	-	22	5206	c.4244A>G	c.(4243-4245)aAg>aGg	p.K1415R	PLXNA4_ENST00000321063.4_Missense_Mutation_p.K1415R			Q9HCM2	PLXA4_HUMAN	plexin A4	1415					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.K1415R(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCCAGGTTCTTGTCAATGAG	0.607																																						uc003vra.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(4243-4245)AAG>AGG		plexin A4 isoform 1							66.0	69.0	68.0					7																	131853105		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131853105T>C	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4244A>G	7.37:g.131853105T>C	ENSP00000352882:p.Lys1415Arg						p.K1415R	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			22	4473	-			1415			Cytoplasmic (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.4244A>G	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.354313	0.61293	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.12361	2.69;2.69	5.28	5.28	0.74379	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.051154	0.85682	D	0.000000	T	0.17746	0.0426	L	0.54965	1.715	0.58432	D	0.99999	B	0.27316	0.175	B	0.29785	0.107	T	0.01858	-1.1259	10	0.51188	T	0.08	.	15.1984	0.73116	0.0:0.0:0.0:1.0	.	1415	Q9HCM2	PLXA4_HUMAN	R	1415	ENSP00000323194:K1415R;ENSP00000352882:K1415R	ENSP00000323194:K1415R	K	-	2	0	PLXNA4	131503645	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.078000	0.71282	2.000000	0.58554	0.379000	0.24179	AAG		PASS	0.607	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		6	15	6	15	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131872233	131872233	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:131872233T>C	ENST00000359827.3	-	15	3952	c.2990A>G	c.(2989-2991)cAc>cGc	p.H997R	PLXNA4_ENST00000321063.4_Missense_Mutation_p.H997R			Q9HCM2	PLXA4_HUMAN	plexin A4	997	IPT/TIG 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.H997R(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GAGTTACCTGTGGAAGAGACA	0.532																																						uc003vra.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2989-2991)CAC>CGC		plexin A4 isoform 1							226.0	242.0	237.0					7																	131872233		2047	4205	6252	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131872233T>C	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2990A>G	7.37:g.131872233T>C	ENSP00000352882:p.His997Arg						p.H997R	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			15	3219	-			997			IPT/TIG 2.|Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.2990A>G	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.690737	0.29962	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.76316	-1.01;-1.01	5.54	5.54	0.83059	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.138546	0.32624	N	0.005851	T	0.62048	0.2396	N	0.08118	0	0.80722	D	1	B	0.16802	0.019	B	0.25759	0.063	T	0.58025	-0.7709	10	0.23891	T	0.37	.	15.6748	0.77307	0.0:0.0:0.0:1.0	.	997	Q9HCM2	PLXA4_HUMAN	R	997	ENSP00000323194:H997R;ENSP00000352882:H997R	ENSP00000323194:H997R	H	-	2	0	PLXNA4	131522773	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.039000	0.49791	2.114000	0.64651	0.454000	0.30748	CAC		PASS	0.532	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		75	106	75	106	---	---	---	---
SLC13A4	26266	broad.mit.edu	37	7	135387595	135387595	+	Nonsense_Mutation	SNP	C	C	A	rs563522177		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:135387595C>A	ENST00000354042.4	-	6	1317	c.628G>T	c.(628-630)Gag>Tag	p.E210*	RP11-644N4.1_ENST00000609370.1_RNA	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	210					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.E210K(1)|p.E210*(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GGCCATACCTCGTTGTGCATC	0.522																																						uc003vta.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(1)|endometrium(1)		0						c.(628-630)GAG>TAG		solute carrier family 13 (sodium/sulfate							122.0	102.0	109.0					7																	135387595		2203	4300	6503	SO:0001587	stop_gained	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135387595C>A	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.628G>T	7.37:g.135387595C>A	ENSP00000297282:p.Glu210*					SLC13A4_uc003vtb.2_Nonsense_Mutation_p.E211*	p.E210*	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN			6	1317	-			210					A4D1Q4|Q8N631	Nonsense_Mutation	SNP	ENST00000354042.4	37	c.628G>T	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	C	39	7.376926	0.98245	.	.	ENSG00000164707	ENST00000354042	.	.	.	4.18	2.91	0.33838	.	0.547316	0.19135	N	0.121837	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	6.369	0.21471	0.0:0.1145:0.0:0.8855	.	.	.	.	X	210	.	ENSP00000297282:E210X	E	-	1	0	SLC13A4	135038135	1.000000	0.71417	0.991000	0.47740	0.080000	0.17528	2.236000	0.43052	0.752000	0.32923	-0.459000	0.05422	GAG		PASS	0.522	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		5	95	5	95	---	---	---	---
DENND2A	27147	broad.mit.edu	37	7	140301337	140301337	+	Silent	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:140301337G>T	ENST00000275884.6	-	2	1278	c.861C>A	c.(859-861)atC>atA	p.I287I	DENND2A_ENST00000496613.1_Silent_p.I287I|DENND2A_ENST00000537639.1_Silent_p.I287I|DENND2A_ENST00000492720.1_Silent_p.I287I			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	287					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.I287I(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCCTGAAGCCGATGCCAGGCT	0.572																																						uc010lnj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(859-861)ATC>ATA		DENN/MADD domain containing 2A							91.0	99.0	96.0					7																	140301337		1981	4156	6137	SO:0001819	synonymous_variant	27147							g.chr7:140301337G>T	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.861C>A	7.37:g.140301337G>T						DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Silent_p.I287I|DENND2A_uc003vvw.2_Silent_p.I287I|DENND2A_uc003vvx.2_Silent_p.I287I	p.I287I	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			1	1006	-	Melanoma(164;0.00956)		287					C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	c.861C>A	CCDS43659.1																																																																																				PASS	0.572	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		4	50	4	50	---	---	---	---
EZH2	2146	broad.mit.edu	37	7	148512011	148512011	+	Nonsense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:148512011G>C	ENST00000460911.1	-	14	1740	c.1652C>G	c.(1651-1653)tCa>tGa	p.S551*	EZH2_ENST00000478654.1_Intron|EZH2_ENST00000320356.2_Nonsense_Mutation_p.S556*|EZH2_ENST00000483967.1_Nonsense_Mutation_p.S542*|EZH2_ENST00000350995.2_Nonsense_Mutation_p.S512*|EZH2_ENST00000541220.1_Intron|EZH2_ENST00000476773.1_Intron			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	551	CXC. {ECO:0000255|PROSITE- ProRule:PRU00970}.|Cys-rich.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.S512*(1)|p.S556*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CTTACACTCTGAACTACATTG	0.373			Mis		DLBCL																																	uc003wfd.1				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		2	Substitution - Nonsense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183						c.(1651-1653)TCA>TGA		enhancer of zeste 2 isoform a							84.0	80.0	82.0					7																	148512011		2203	4300	6503	SO:0001587	stop_gained	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148512011G>C		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1652C>G	7.37:g.148512011G>C	ENSP00000419711:p.Ser551*					EZH2_uc011kug.1_Intron|EZH2_uc003wfb.1_Nonsense_Mutation_p.S556*|EZH2_uc003wfc.1_Nonsense_Mutation_p.S512*|EZH2_uc011kuh.1_Nonsense_Mutation_p.S542*	p.S551*	NM_004456	NP_004447	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		14	1818	-	Melanoma(164;0.15)		551			Cys-rich.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Nonsense_Mutation	SNP	ENST00000460911.1	37	c.1652C>G	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	g	38	6.953324	0.97960	.	.	ENSG00000106462	ENST00000320356;ENST00000460911;ENST00000350995;ENST00000483967	.	.	.	5.32	4.44	0.53790	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	14.0595	0.64790	0.0725:0.0:0.9275:0.0	.	.	.	.	X	556;551;512;542	.	ENSP00000320147:S556X	S	-	2	0	EZH2	148142944	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.277000	0.65586	1.240000	0.43803	0.563000	0.77884	TCA		PASS	0.373	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		8	11	8	11	---	---	---	---
ZNF425	155054	broad.mit.edu	37	7	148801651	148801651	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:148801651C>T	ENST00000378061.2	-	4	1444	c.1312G>A	c.(1312-1314)Ggg>Agg	p.G438R		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	438					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G438R(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGCCGCTTCCCAATGTGCTGC	0.607																																						uc003wfj.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(1312-1314)GGG>AGG		zinc finger protein 425							44.0	46.0	45.0					7																	148801651		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801651C>T	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1312G>A	7.37:g.148801651C>T	ENSP00000367300:p.Gly438Arg						p.G438R	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1385	-	Melanoma(164;0.15)		438					B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.1312G>A	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577372	0.45902	.	.	ENSG00000204947	ENST00000378061	T	0.20332	2.08	3.34	2.41	0.29592	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36771	0.0979	L	0.55743	1.74	0.09310	N	1	D	0.57257	0.979	D	0.65233	0.933	T	0.08659	-1.0711	9	0.56958	D	0.05	.	10.0914	0.42449	0.0:0.7924:0.2076:0.0	.	438	Q6IV72	ZN425_HUMAN	R	438	ENSP00000367300:G438R	ENSP00000367300:G438R	G	-	1	0	ZNF425	148432584	0.022000	0.18835	0.005000	0.12908	0.036000	0.12997	2.901000	0.48695	0.690000	0.31570	0.655000	0.94253	GGG		PASS	0.607	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		28	26	28	26	---	---	---	---
SMARCD3	6604	broad.mit.edu	37	7	150939642	150939642	+	Silent	SNP	C	C	A	rs200087546		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr7:150939642C>A	ENST00000262188.8	-	5	914	c.504G>T	c.(502-504)gcG>gcT	p.A168A	SMARCD3_ENST00000392811.2_Silent_p.A155A|SMARCD3_ENST00000477169.1_5'UTR|SMARCD3_ENST00000356800.2_Silent_p.A155A|RP4-548D19.3_ENST00000607902.1_RNA	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	168					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.A155A(3)|p.A168A(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCAGGCTTCGCAGGGTTAA	0.577																																						uc003wjs.2																			4	Substitution - coding silent(4)		large_intestine(2)|lung(2)	ovary(1)|lung(1)	2						c.(502-504)GCG>GCT		SWI/SNF related, matrix associated, actin							111.0	119.0	116.0					7																	150939642		2203	4300	6503	SO:0001819	synonymous_variant	6604				cellular lipid metabolic process|chromatin modification|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	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	g.chr7:150939642C>A	U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.504G>T	7.37:g.150939642C>A						SMARCD3_uc003wjt.2_Silent_p.A155A|SMARCD3_uc003wju.2_Silent_p.A155A|SMARCD3_uc011kvh.1_Silent_p.A168A|SMARCD3_uc010lqa.1_Silent_p.A168A	p.A168A	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	605	-			168					D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Silent	SNP	ENST00000262188.8	37	c.504G>T	CCDS34780.1																																																																																				PASS	0.577	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801		5	94	5	94	---	---	---	---
SGCZ	137868	broad.mit.edu	37	8	14412436	14412436	+	Splice_Site	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr8:14412436C>T	ENST00000382080.1	-	2	755		c.e2-1		SGCZ_ENST00000421524.2_5'Flank	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta						membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.?(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CTCGTGTCATCTGaaaaagaa	0.333																																						uc003wwq.2																			1	Unknown(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.e2-1		sarcoglycan zeta							155.0	150.0	152.0					8																	14412436		2203	4300	6503	SO:0001630	splice_region_variant	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:14412436C>T	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.40-1G>A	8.37:g.14412436C>T						SGCZ_uc010lss.2_Splice_Site_p.M1_splice	p.M14_splice	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	2	700	-								Q6REU0	Splice_Site	SNP	ENST00000382080.1	37	c.40_splice	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782818	0.49891	.	.	ENSG00000185053	ENST00000382080	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1557	0.89690	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SGCZ	14456807	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.445000	0.80570	2.708000	0.92522	0.650000	0.86243	.		PASS	0.333	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167	Intron	6	12	6	12	---	---	---	---
XPO7	23039	broad.mit.edu	37	8	21848343	21848343	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr8:21848343G>T	ENST00000252512.9	+	18	2054	c.1954G>T	c.(1954-1956)Ggt>Tgt	p.G652C	XPO7_ENST00000434536.1_Missense_Mutation_p.G661C|XPO7_ENST00000433566.4_Missense_Mutation_p.G653C	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	652					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)	p.G652C(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TTCATTTTTGGGTATTAACAA	0.408																																						uc003xaa.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5						c.(1954-1956)GGT>TGT		exportin 7 isoform b							192.0	183.0	186.0					8																	21848343		1868	4104	5972	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21848343G>T	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1954G>T	8.37:g.21848343G>T	ENSP00000252512:p.Gly652Cys					XPO7_uc010lti.2_Missense_Mutation_p.G661C|XPO7_uc010ltk.2_Missense_Mutation_p.G653C	p.G652C	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	18	2056	+			652					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.1954G>T	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098951	0.94197	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.67523	-0.27;-0.27;-0.27	5.94	5.94	0.96194	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83723	0.5316	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.987;0.982	D	0.83601	0.0128	10	0.54805	T	0.06	-13.5487	19.9641	0.97260	0.0:0.0:1.0:0.0	.	653;661;652	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	C	661;652;653	ENSP00000404853:G661C;ENSP00000252512:G652C;ENSP00000410249:G653C	ENSP00000252512:G652C	G	+	1	0	XPO7	21904289	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.841000	0.99482	2.819000	0.97034	0.650000	0.86243	GGT		PASS	0.408	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		6	99	6	99	---	---	---	---
CHMP7	91782	broad.mit.edu	37	8	23114092	23114092	+	Silent	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr8:23114092C>A	ENST00000397677.1	+	5	1425	c.777C>A	c.(775-777)tcC>tcA	p.S259S	CHMP7_ENST00000313219.7_Silent_p.S259S	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	259					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)	p.S259S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGTCCTTATCCCAGGAAGCAG	0.512																																						uc003xdc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(775-777)TCC>TCA		CHMP family, member 7							208.0	192.0	198.0					8																	23114092		2203	4300	6503	SO:0001819	synonymous_variant	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23114092C>A	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.777C>A	8.37:g.23114092C>A						CHMP7_uc011kzs.1_RNA|CHMP7_uc003xdd.2_Silent_p.S149S|CHMP7_uc003xde.2_Silent_p.S117S	p.S259S	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	5	1425	+		Prostate(55;0.0513)	259			Potential.		B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Silent	SNP	ENST00000397677.1	37	c.777C>A	CCDS6040.1																																																																																				PASS	0.512	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272		8	144	8	144	---	---	---	---
NRG1	3084	broad.mit.edu	37	8	32617716	32617716	+	Splice_Site	SNP	A	A	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr8:32617716A>T	ENST00000405005.3	+	11	1061		c.e11-1		NRG1_ENST00000338921.4_Splice_Site|NRG1_ENST00000356819.4_Splice_Site|NRG1_ENST00000287842.3_Splice_Site|NRG1_ENST00000523079.1_Splice_Site|NRG1_ENST00000341377.5_Splice_Site|NRG1_ENST00000539990.1_Splice_Site|NRG1_ENST00000287845.5_Splice_Site|NRG1_ENST00000521670.1_Splice_Site|NRG1_ENST00000519301.1_Splice_Site			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TTTCCTCCGCAGCTGGAGCAA	0.433																																						uc003xiv.2																			2	Unknown(2)		lung(2)		0						c.e11-2		neuregulin 1 isoform HRG-alpha							68.0	69.0	69.0					8																	32617716		2203	4300	6503	SO:0001630	splice_region_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32617716A>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1062-1A>T	8.37:g.32617716A>T						NRG1_uc011lbf.1_Splice_Site_p.S351_splice|NRG1_uc010lvo.2_Splice_Site_p.S351_splice|NRG1_uc003xiu.2_Splice_Site_p.S359_splice|NRG1_uc003xiw.2_Splice_Site_p.S351_splice|NRG1_uc003xit.2_Splice_Site_p.S354_splice|NRG1_uc010lvr.2_Splice_Site_p.S96_splice|NRG1_uc010lvs.2_Splice_Site_p.S96_splice|NRG1_uc010lvp.2_Splice_Site_p.S308_splice|NRG1_uc010lvq.2_Splice_Site_p.S291_splice|NRG1_uc011lbg.1_Splice_Site_p.S200_splice|NRG1_uc011lbh.1_Splice_Site_p.S197_splice|NRG1_uc003xja.2_Splice_Site_p.S165_splice	p.S354_splice	NM_013964	NP_039258	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	11	1579	+		Breast(100;0.203)						A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Splice_Site	SNP	ENST00000405005.3	37	c.1062_splice	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.159919	0.38119	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000521670;ENST00000539990	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.167	0.81768	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NRG1	32737258	0.991000	0.36638	0.929000	0.37066	0.115000	0.19883	2.692000	0.47018	2.214000	0.71695	0.528000	0.53228	.		PASS	0.433	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1		Intron	14	24	14	24	---	---	---	---
FUT10	84750	broad.mit.edu	37	8	33246586	33246586	+	Missense_Mutation	SNP	C	C	A	rs369687063		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr8:33246586C>A	ENST00000327671.5	-	4	1738	c.1107G>T	c.(1105-1107)agG>agT	p.R369S	FUT10_ENST00000524021.1_Missense_Mutation_p.R341S|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000335589.3_Missense_Mutation_p.R307S|FUT10_ENST00000518672.1_Missense_Mutation_p.R341S	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	369					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)	p.R369S(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		ATTTCCGTTCCCTGAGAGCTG	0.483																																						uc003xje.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1105-1107)AGG>AGT		fucosyltransferase 10							222.0	189.0	200.0					8																	33246586		2203	4300	6503	SO:0001583	missense	84750				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr8:33246586C>A	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.1107G>T	8.37:g.33246586C>A	ENSP00000332757:p.Arg369Ser					FUT10_uc003xjc.2_Missense_Mutation_p.R376S|FUT10_uc003xjd.2_Missense_Mutation_p.R341S|FUT10_uc011lbi.1_Missense_Mutation_p.R419S|FUT10_uc003xjf.2_Missense_Mutation_p.R307S|FUT10_uc003xjg.2_Missense_Mutation_p.R341S|FUT10_uc003xjh.2_Missense_Mutation_p.R369S	p.R369S	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)	4	1463	-			369			Lumenal (Potential).		A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	c.1107G>T	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799880	0.31869	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.37752	1.18;1.18;1.18;1.79	5.04	3.17	0.36434	.	0.386859	0.26944	N	0.021718	T	0.25494	0.0620	L	0.49126	1.545	0.23336	N	0.997884	B;B;B;B;B;B	0.18166	0.026;0.002;0.003;0.003;0.019;0.001	B;B;B;B;B;B	0.23716	0.048;0.007;0.007;0.017;0.021;0.02	T	0.28839	-1.0031	10	0.08837	T	0.75	-5.4093	4.5371	0.12038	0.1781:0.6371:0.0:0.1848	.	419;369;341;307;369;411	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	S	369;411;341;341;307	ENSP00000332757:R369S;ENSP00000430428:R341S;ENSP00000429870:R341S;ENSP00000334997:R307S	ENSP00000332757:R369S	R	-	3	2	FUT10	33366128	0.950000	0.32346	0.986000	0.45419	0.987000	0.75469	0.453000	0.21811	0.585000	0.29608	0.557000	0.71058	AGG		PASS	0.483	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		7	67	7	67	---	---	---	---
BAG4	9530	broad.mit.edu	37	8	38067632	38067632	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr8:38067632C>A	ENST00000287322.4	+	5	1266	c.995C>A	c.(994-996)tCa>tAa	p.S332*	BAG4_ENST00000432471.2_Nonsense_Mutation_p.S296*	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	332					cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)	p.S332*(1)		breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				AATGATGATTCAGATCTTTTG	0.458																																						uc003xky.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(994-996)TCA>TAA		BCL2-associated athanogene 4							167.0	135.0	146.0					8																	38067632		2203	4300	6503	SO:0001587	stop_gained	9530				anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity	g.chr8:38067632C>A	AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"""silencer of death domains"""	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.995C>A	8.37:g.38067632C>A	ENSP00000287322:p.Ser332*					BAG4_uc003xkz.1_Nonsense_Mutation_p.S296*	p.S332*	NM_004874	NP_004865	O95429	BAG4_HUMAN			5	1277	+	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	332					B4E217|O95818	Nonsense_Mutation	SNP	ENST00000287322.4	37	c.995C>A	CCDS6104.1	.	.	.	.	.	.	.	.	.	.	C	35	5.541279	0.96474	.	.	ENSG00000156735	ENST00000432471;ENST00000287322	.	.	.	5.11	5.11	0.69529	.	0.332987	0.26662	N	0.023142	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7725	16.0355	0.80625	0.0:1.0:0.0:0.0	.	.	.	.	X	296;332	.	ENSP00000287322:S332X	S	+	2	0	BAG4	38186789	0.003000	0.15002	0.020000	0.16555	0.856000	0.48823	1.737000	0.38197	2.515000	0.84797	0.650000	0.86243	TCA		PASS	0.458	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2	NM_004874		28	43	28	43	---	---	---	---
AGPAT6	137964	broad.mit.edu	37	8	41467233	41467233	+	Missense_Mutation	SNP	G	G	T	rs557789924		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr8:41467233G>T	ENST00000396987.3	+	4	1222	c.295G>T	c.(295-297)Ggt>Tgt	p.G99C	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	99					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.G99C(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			TCGTCGAAGTGGTAGTAGTAA	0.468																																						uc003xnz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(295-297)GGT>TGT		lysophosphatidic acid acyltransferase zeta							107.0	102.0	104.0					8																	41467233		2203	4300	6503	SO:0001583	missense	137964				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	g.chr8:41467233G>T	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20880	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, zeta"""	608143	"""1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"""			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.295G>T	8.37:g.41467233G>T	ENSP00000380184:p.Gly99Cys						p.G99C	NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		4	1234	+	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	99					Q86V89	Missense_Mutation	SNP	ENST00000396987.3	37	c.295G>T	CCDS6117.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830290	0.91036	.	.	ENSG00000158669	ENST00000396987;ENST00000519853	T	0.45668	0.89	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.46678	0.1405	L	0.43152	1.355	0.80722	D	1	P	0.44478	0.836	P	0.48227	0.571	T	0.44498	-0.9324	10	0.52906	T	0.07	.	17.4163	0.87500	0.0:0.0:1.0:0.0	.	99	Q86UL3	GPAT4_HUMAN	C	99;53	ENSP00000380184:G99C	ENSP00000380184:G99C	G	+	1	0	AGPAT6	41586390	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.275000	0.95738	2.643000	0.89663	0.563000	0.77884	GGT		PASS	0.468	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819		11	219	11	219	---	---	---	---
ANK1	286	broad.mit.edu	37	8	41615563	41615563	+	Silent	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr8:41615563G>T	ENST00000347528.4	-	2	203	c.120C>A	c.(118-120)acC>acA	p.T40T	ANK1_ENST00000379758.2_Silent_p.T40T|ANK1_ENST00000396942.1_Silent_p.T40T|ANK1_ENST00000265709.8_Silent_p.T73T|ANK1_ENST00000352337.4_Silent_p.T40T|ANK1_ENST00000396945.1_Silent_p.T40T|ANK1_ENST00000289734.7_Silent_p.T40T	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	40	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.T40T(1)|p.T73T(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCTGGTTACAGGTGTTAATAT	0.498																																						uc003xok.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(118-120)ACC>ACA		ankyrin 1 isoform 1							326.0	311.0	316.0					8																	41615563		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41615563G>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.120C>A	8.37:g.41615563G>T						NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.T40T|ANK1_uc003xoj.2_Silent_p.T40T|ANK1_uc003xol.2_Silent_p.T40T|ANK1_uc003xom.2_Silent_p.T73T	p.T40T	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		2	204	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	40			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.120C>A	CCDS6119.1																																																																																				PASS	0.498	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		11	533	11	533	---	---	---	---
SPIDR	23514	broad.mit.edu	37	8	48614343	48614343	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr8:48614343G>T	ENST00000297423.4	+	13	2218	c.1834G>T	c.(1834-1836)Gga>Tga	p.G612*	SPIDR_ENST00000517693.1_Nonsense_Mutation_p.G87*|SPIDR_ENST00000518074.1_Nonsense_Mutation_p.G552*|SPIDR_ENST00000541342.1_Nonsense_Mutation_p.G542*|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	612					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)		p.G612*(1)									TCCAAATCTGGGACAAATTGA	0.403																																						uc003xqd.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1834-1836)GGA>TGA		hypothetical protein LOC23514							163.0	155.0	157.0					8																	48614343		1889	4115	6004	SO:0001587	stop_gained	23514							g.chr8:48614343G>T	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1834G>T	8.37:g.48614343G>T	ENSP00000297423:p.Gly612*					KIAA0146_uc011ldb.1_Nonsense_Mutation_p.G612*|KIAA0146_uc010lxs.2_Nonsense_Mutation_p.G87*|KIAA0146_uc011ldc.1_Nonsense_Mutation_p.G542*|KIAA0146_uc011ldd.1_Nonsense_Mutation_p.G552*|KIAA0146_uc003xqe.2_Nonsense_Mutation_p.G87*|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Nonsense_Mutation_p.G301*|KIAA0146_uc010lxt.2_Nonsense_Mutation_p.G301*|KIAA0146_uc011ldf.1_Nonsense_Mutation_p.G117*|KIAA0146_uc011ldg.1_Nonsense_Mutation_p.G102*|KIAA0146_uc010lxv.1_Nonsense_Mutation_p.G106*	p.G612*	NM_001080394	NP_001073863	Q14159	K0146_HUMAN			13	1843	+		Lung NSC(58;0.175)	612					B4DFV2|B4E0Y6|Q96BI5	Nonsense_Mutation	SNP	ENST00000297423.4	37	c.1834G>T	CCDS43737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.453430|4.453430	0.84209|0.84209	.|.	.|.	ENSG00000164808|ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362|ENST00000519401	.|.	.|.	.|.	5.41|5.41	4.53|4.53	0.55603|0.55603	.|.	0.231431|.	0.34025|.	N|.	0.004331|.	.|T	.|0.44519	.|0.1297	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.55398	.|-0.8147	.|3	0.06891|.	T|.	0.86|.	.|.	7.4763|7.4763	0.27378|0.27378	0.2318:0.0:0.7682:0.0|0.2318:0.0:0.7682:0.0	.|.	.|.	.|.	.|.	X|C	612;552;542;117;87;87|293	.|.	ENSP00000297423:G612X|.	G|W	+|+	1|3	0|0	KIAA0146|KIAA0146	48776896|48776896	0.682000|0.682000	0.27624|0.27624	0.041000|0.041000	0.18516|0.18516	0.221000|0.221000	0.24807|0.24807	3.675000|3.675000	0.54605|0.54605	1.280000|1.280000	0.44463|0.44463	0.655000|0.655000	0.94253|0.94253	GGA|TGG		PASS	0.403	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		8	187	8	187	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55533754	55533754	+	Silent	SNP	C	C	A	rs142600056		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr8:55533754C>A	ENST00000220676.1	+	2	376	c.228C>A	c.(226-228)ctC>ctA	p.L76L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	76	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.L76L(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGGTGCCCCTCCCTTTTGGAG	0.612																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(226-228)CTC>CTA		retinitis pigmentosa RP1 protein							118.0	94.0	102.0					8																	55533754		2203	4300	6503	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533754C>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.228C>A	8.37:g.55533754C>A						RP1_uc011ldy.1_Silent_p.L76L	p.L76L	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	376	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	76			Doublecortin 1.			Silent	SNP	ENST00000220676.1	37	c.228C>A	CCDS6160.1																																																																																				PASS	0.612	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		31	94	31	94	---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73848373	73848373	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr8:73848373C>G	ENST00000523207.1	+	3	1371	c.783C>G	c.(781-783)ttC>ttG	p.F261L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	261					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.F261L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AATGGAAGTTCTTCAAAGGCC	0.453																																						uc003xzb.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(781-783)TTC>TTG		potassium voltage-gated channel, Shab-related							158.0	145.0	150.0					8																	73848373		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848373C>G	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.783C>G	8.37:g.73848373C>G	ENSP00000430846:p.Phe261Leu						p.F261L	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1371	+	Breast(64;0.137)		261			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.783C>G	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804089	0.70682	.	.	ENSG00000182674	ENST00000523207	D	0.98747	-5.11	5.93	5.93	0.95920	Ion transport (1);	0.000000	0.47852	D	0.000206	D	0.99468	0.9811	H	0.97783	4.075	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	D	0.98316	1.0526	10	0.87932	D	0	.	13.5376	0.61655	0.0:0.9291:0.0:0.0709	.	261	Q92953	KCNB2_HUMAN	L	261	ENSP00000430846:F261L	ENSP00000430846:F261L	F	+	3	2	KCNB2	74010927	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	4.018000	0.57174	2.808000	0.96608	0.655000	0.94253	TTC		PASS	0.453	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		6	96	6	96	---	---	---	---
LRRCC1	85444	broad.mit.edu	37	8	86050478	86050478	+	Splice_Site	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr8:86050478G>T	ENST00000360375.3	+	16	2851	c.2702G>T	c.(2701-2703)aGt>aTt	p.S901I	LRRCC1_ENST00000414626.2_Splice_Site_p.S881I	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	901					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S881I(1)|p.S901I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAAGCTTACAGGTATTATATA	0.289																																						uc003ycw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2701-2703)AGT>ATT		sodium channel associated protein 2 isoform a							42.0	41.0	41.0					8																	86050478		1799	4063	5862	SO:0001630	splice_region_variant	85444				cell division|mitosis	centriole|nucleus		g.chr8:86050478G>T	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2702+1G>T	8.37:g.86050478G>T						LRRCC1_uc010maa.1_3'UTR|LRRCC1_uc003ycx.2_Missense_Mutation_p.S808I|LRRCC1_uc003ycy.2_Missense_Mutation_p.S881I	p.S901I	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			16	2856	+			901					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.2702G>T	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378937	0.82682	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.34667	1.35;1.35	5.34	5.34	0.76211	.	0.000000	0.44688	D	0.000430	T	0.59595	0.2205	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.997;0.959	T	0.59910	-0.7365	10	0.54805	T	0.06	-19.5465	18.6256	0.91336	0.0:0.0:1.0:0.0	.	881;808;901	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	I	901;881	ENSP00000353538:S901I;ENSP00000394695:S881I	ENSP00000353538:S901I	S	+	2	0	LRRCC1	86237730	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.811000	0.75221	2.507000	0.84556	0.650000	0.86243	AGT		PASS	0.289	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402	Missense_Mutation	6	27	6	27	---	---	---	---
RPL30	6156	broad.mit.edu	37	8	99057209	99057209	+	Silent	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr8:99057209C>A	ENST00000521291.1	-	2	275	c.129G>T	c.(127-129)gcG>gcT	p.A43A	RPL30_ENST00000287038.3_Silent_p.A43A|RPL30_ENST00000396070.2_Silent_p.A43A|KB-1208A12.3_ENST00000501016.2_RNA|RPL30_ENST00000523172.1_Intron|RPL30_ENST00000518164.1_5'UTR|SNORA72_ENST00000384339.1_RNA			P62888	RL30_HUMAN	ribosomal protein L30	43					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.A43A(1)		kidney(2)|lung(4)|skin(1)	7	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.192)			TGACCAATTTCGCTTTGCCTT	0.488																																						uc003yif.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(127-129)GCG>GCT		ribosomal protein L30							195.0	180.0	185.0					8																	99057209		2203	4300	6503	SO:0001819	synonymous_variant	6156				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr8:99057209C>A		CCDS34928.1	8q22	2013-05-09			ENSG00000156482	ENSG00000156482		"""L ribosomal proteins"""	10333	protein-coding gene	gene with protein product		180467				1577483	Standard	NM_000989		Approved	L30	uc003yif.3	P62888	OTTHUMG00000164796	ENST00000521291.1:c.129G>T	8.37:g.99057209C>A						RPL30_uc010mbk.1_Silent_p.A43A|SNORA72_uc003yig.1_5'Flank	p.A43A	NM_000989	NP_000980	P62888	RL30_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.192)		3	199	-	Breast(36;1.43e-06)		43					B2R591|P04645|Q502Z6	Silent	SNP	ENST00000521291.1	37	c.129G>T	CCDS34928.1																																																																																				PASS	0.488	RPL30-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380450.1			7	303	7	303	---	---	---	---
SLC25A32	81034	broad.mit.edu	37	8	104427350	104427350	+	5'Flank	SNP	G	G	C	rs140179211	byFrequency	TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr8:104427350G>C	ENST00000297578.4	-	0	0				DCAF13_ENST00000521971.1_5'Flank|DCAF13_ENST00000521716.1_5'Flank|SLC25A32_ENST00000543107.1_5'Flank|DCAF13_ENST00000297579.5_Silent_p.T44T|DCAF13_ENST00000519682.1_5'Flank	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)	p.T44T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	GGGCAAGAACGGGGCACAGAC	0.657																																						uc003yln.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(130-132)ACG>ACC		WD repeats and SOF1 domain containing							44.0	42.0	43.0					8																	104427350		2203	4300	6503	SO:0001631	upstream_gene_variant	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104427350G>C	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790		8.37:g.104427350G>C	Exception_encountered					SLC25A32_uc003yll.2_5'UTR|SLC25A32_uc011lhr.1_5'UTR|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR	p.T44T	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN			1	409	+			Error:Variant_position_missing_in_Q9NV06_after_alignment					Q96JZ6|Q96SU7	Silent	SNP	ENST00000297578.4	37	c.132G>C	CCDS6300.1																																																																																				PASS	0.657	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		23	34	23	34	---	---	---	---
KCNV1	27012	broad.mit.edu	37	8	110984530	110984530	+	Silent	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr8:110984530C>G	ENST00000524391.1	-	3	1980	c.948G>C	c.(946-948)ctG>ctC	p.L316L	KCNV1_ENST00000297404.1_Silent_p.L316L|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	316					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)	p.L316L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GAGCCCTGAGCAGCCTCAACA	0.507																																						uc003ynr.3																			1	Substitution - coding silent(1)		lung(1)	lung(1)|kidney(1)	2						c.(946-948)CTG>CTC		potassium channel, subfamily V, member 1							83.0	73.0	77.0					8																	110984530		2203	4300	6503	SO:0001819	synonymous_variant	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984530C>G	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.948G>C	8.37:g.110984530C>G						KCNV1_uc010mcw.2_Silent_p.L316L	p.L316L	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		2	1290	-	all_neural(195;0.219)		316			Helical; Voltage-sensor; Name=Segment S4; (Potential).		Q9UHJ4	Silent	SNP	ENST00000524391.1	37	c.948G>C	CCDS6314.1																																																																																				PASS	0.507	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		8	40	8	40	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113249469	113249469	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr8:113249469C>A	ENST00000297405.5	-	67	10821	c.10577G>T	c.(10576-10578)gGg>gTg	p.G3526V	CSMD3_ENST00000352409.3_Missense_Mutation_p.G3456V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3486V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3357V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3526						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G3526V(1)|p.G3486V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTTAACTCTCCCAGTGGAAGC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10576-10578)GGG>GTG		CUB and Sushi multiple domains 3 isoform 1							211.0	194.0	200.0					8																	113249469		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113249469C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10577G>T	8.37:g.113249469C>A	ENSP00000297405:p.Gly3526Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G2728V|CSMD3_uc003ynt.2_Missense_Mutation_p.G3486V|CSMD3_uc011lhx.1_Missense_Mutation_p.G3357V	p.G3526V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			67	10736	-			3526			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10577G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680181	0.88542	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.26518	2.02;2.01;2.07;1.73;2.05	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000002	T	0.46580	0.1400	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.964	D;D;P	0.87578	0.998;0.994;0.839	T	0.29336	-1.0015	10	0.41790	T	0.15	.	18.1948	0.89818	0.0:1.0:0.0:0.0	.	3357;3526;3486	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	3486;3526;2796;3357;3456	ENSP00000345799:G3486V;ENSP00000297405:G3526V;ENSP00000341558:G2796V;ENSP00000412263:G3357V;ENSP00000343124:G3456V	ENSP00000297405:G3526V	G	-	2	0	CSMD3	113318645	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.627000	0.83176	2.514000	0.84764	0.467000	0.42956	GGG		PASS	0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		9	34	9	34	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113301647	113301647	+	Nonsense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr8:113301647G>C	ENST00000297405.5	-	57	9339	c.9095C>G	c.(9094-9096)tCa>tGa	p.S3032*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S2962*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S2992*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S2863*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3032	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S3032*(1)|p.S2992*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCAGGTTCTTGATGACTGGCC	0.443										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9094-9096)TCA>TGA		CUB and Sushi multiple domains 3 isoform 1							131.0	122.0	125.0					8																	113301647		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113301647G>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9095C>G	8.37:g.113301647G>C	ENSP00000297405:p.Ser3032*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.S2234*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.S2992*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.S2863*	p.S3032*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			57	9254	-			3032			Sushi 21.|Extracellular (Potential).		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.9095C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	51	17.781171	0.99893	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	6.17	6.17	0.99709	.	0.091290	0.46442	D	0.000296	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	2992;3032;2302;2863;2962	.	ENSP00000297405:S3032X	S	-	2	0	CSMD3	113370823	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	TCA		PASS	0.443	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		12	15	12	15	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113332130	113332130	+	Splice_Site	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr8:113332130C>A	ENST00000297405.5	-	46	7490	c.7246G>T	c.(7246-7248)Ggt>Tgt	p.G2416C	CSMD3_ENST00000352409.3_Splice_Site_p.G2346C|CSMD3_ENST00000343508.3_Splice_Site_p.G2376C|CSMD3_ENST00000455883.2_Splice_Site_p.G2312C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2416	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G2416C(1)|p.G2376C(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACAGCTTTACCTATTTCAAAT	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7246-7248)GGT>TGT		CUB and Sushi multiple domains 3 isoform 1							112.0	116.0	115.0					8																	113332130		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113332130C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7246+1G>T	8.37:g.113332130C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G1618C|CSMD3_uc003ynt.2_Missense_Mutation_p.G2376C|CSMD3_uc011lhx.1_Missense_Mutation_p.G2312C|CSMD3_uc003ynw.1_Missense_Mutation_p.G127C	p.G2416C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			46	7405	-			2416			Extracellular (Potential).|Sushi 13.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7246G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780030	0.90195	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7	5.07	5.07	0.68467	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.90553	0.7039	H	0.97983	4.12	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.94062	0.7327	9	.	.	.	.	18.7972	0.91999	0.0:1.0:0.0:0.0	.	2312;2416;2376	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	2376;2416;1686;2312;2346	ENSP00000345799:G2376C;ENSP00000297405:G2416C;ENSP00000341558:G1686C;ENSP00000412263:G2312C;ENSP00000343124:G2346C	.	G	-	1	0	CSMD3	113401306	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.018000	0.70811	2.517000	0.84864	0.579000	0.79373	GGT		PASS	0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	8	30	8	30	---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116631517	116631517	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr8:116631517C>T	ENST00000220888.5	-	2	928	c.769G>A	c.(769-771)Gat>Aat	p.D257N	TRPS1_ENST00000520276.1_Missense_Mutation_p.D261N|TRPS1_ENST00000519674.1_Missense_Mutation_p.D257N|TRPS1_ENST00000395715.3_Missense_Mutation_p.D270N|TRPS1_ENST00000519076.1_Missense_Mutation_p.D211N			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	257					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D257N(1)|p.D270N(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGCTCAGCATCTTGCCTGGTG	0.468									Langer-Giedion syndrome																													uc003ynz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(769-771)GAT>AAT		zinc finger transcription factor TRPS1							103.0	99.0	100.0					8																	116631517		1929	4159	6088	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116631517C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.769G>A	8.37:g.116631517C>T	ENSP00000220888:p.Asp257Asn					TRPS1_uc011lhy.1_Missense_Mutation_p.D261N|TRPS1_uc003yny.2_Missense_Mutation_p.D270N|TRPS1_uc010mcy.2_Missense_Mutation_p.D257N	p.D257N	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		2	1228	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		257					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.769G>A		.	.	.	.	.	.	.	.	.	.	C	25.0	4.596347	0.86953	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.88202	0.6373	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	D	0.89952	0.4080	10	0.87932	D	0	.	19.1937	0.93677	0.0:1.0:0.0:0.0	.	261;257;270	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	N	270;257;211;261;257	ENSP00000379065:D270N;ENSP00000220888:D257N;ENSP00000428910:D211N;ENSP00000428680:D261N;ENSP00000429174:D257N	ENSP00000220888:D257N	D	-	1	0	TRPS1	116700692	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	2.542000	0.85734	0.460000	0.39030	GAT		PASS	0.468	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		13	33	13	33	---	---	---	---
SLC45A4	57210	broad.mit.edu	37	8	142228416	142228416	+	Silent	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr8:142228416C>G	ENST00000024061.3	-	4	1477	c.1170G>C	c.(1168-1170)cgG>cgC	p.R390R	SLC45A4_ENST00000519067.1_Silent_p.R390R|SLC45A4_ENST00000433583.2_Silent_p.R383R|SLC45A4_ENST00000517878.1_Silent_p.R441R	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)		p.R390R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGTTGGCGCGCCGGTAGCGGT	0.687																																						uc003ywd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1168-1170)CGG>CGC		solute carrier family 45, member 4							40.0	43.0	42.0					8																	142228416		2202	4298	6500	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142228416C>G	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1170G>C	8.37:g.142228416C>G						SLC45A4_uc003ywc.1_Silent_p.R390R|SLC45A4_uc010meq.1_Silent_p.R388R	p.R390R	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1478	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		441					Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.1170G>C	CCDS34948.1																																																																																				PASS	0.687	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		18	18	18	18	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8436665	8436665	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr9:8436665G>T	ENST00000381196.4	-	32	4556	c.4013C>A	c.(4012-4014)cCc>cAc	p.P1338H	PTPRD_ENST00000356435.5_Missense_Mutation_p.P1338H|PTPRD_ENST00000397606.3_Missense_Mutation_p.P931H|PTPRD_ENST00000397611.3_Missense_Mutation_p.P928H|PTPRD_ENST00000537002.1_Missense_Mutation_p.P928H|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1325H|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1316H|PTPRD_ENST00000355233.5_Missense_Mutation_p.P932H|PTPRD_ENST00000486161.1_Missense_Mutation_p.P931H|PTPRD_ENST00000397617.3_Missense_Mutation_p.P931H|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1338H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1338					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P1338H(2)|p.P809H(1)|p.P932H(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCCAAGATGGGTATTGGAGG	0.338										TSP Lung(15;0.13)																												uc003zkk.2																			4	Substitution - Missense(4)		lung(4)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(4012-4014)CCC>CAC		protein tyrosine phosphatase, receptor type, D							123.0	123.0	123.0					9																	8436665		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8436665G>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4013C>A	9.37:g.8436665G>T	ENSP00000370593:p.Pro1338His	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.P932H|PTPRD_uc003zkq.2_Missense_Mutation_p.P931H|PTPRD_uc003zkr.2_Missense_Mutation_p.P922H|PTPRD_uc003zks.2_Missense_Mutation_p.P931H|PTPRD_uc003zkl.2_Missense_Mutation_p.P1329H|PTPRD_uc003zkm.2_Missense_Mutation_p.P1325H|PTPRD_uc003zkn.2_Missense_Mutation_p.P927H|PTPRD_uc003zko.2_Missense_Mutation_p.P928H	p.P1338H	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	34	4724	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1338			Cytoplasmic (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4013C>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246250	0.80024	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.57273	0.42;0.42;0.45;0.5;0.63;0.74;0.51;0.41;0.42;0.62;0.74	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.79046	0.4380	M	0.88775	2.98	0.80722	D	1	D;D;D;D;P;D;P;D;P	0.89917	0.999;0.999;0.999;0.999;0.782;0.999;0.955;1.0;0.675	D;D;D;D;B;D;P;D;B	0.87578	0.976;0.976;0.976;0.976;0.386;0.989;0.708;0.998;0.347	T	0.80236	-0.1466	9	.	.	.	.	20.5596	0.99324	0.0:0.0:1.0:0.0	.	931;922;931;932;928;928;1325;1338;1338	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	1338;1338;1325;1316;932;931;928;928;809;1338;931;931	ENSP00000370593:P1338H;ENSP00000348812:P1338H;ENSP00000353187:P1325H;ENSP00000351293:P1316H;ENSP00000347373:P932H;ENSP00000380741:P931H;ENSP00000380735:P928H;ENSP00000440515:P928H;ENSP00000438164:P1338H;ENSP00000417093:P931H;ENSP00000380731:P931H	.	P	-	2	0	PTPRD	8426665	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.444000	0.97578	2.868000	0.98415	0.555000	0.69702	CCC		PASS	0.338	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			4	12	4	12	---	---	---	---
TYRP1	7306	broad.mit.edu	37	9	12695714	12695714	+	Silent	SNP	A	A	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr9:12695714A>C	ENST00000388918.5	+	3	714	c.585A>C	c.(583-585)tcA>tcC	p.S195S	TYRP1_ENST00000381136.2_5'Flank|TYRP1_ENST00000381137.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	195					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S195S(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		ACTATTACTCAGTCAAAAAGA	0.453									Oculocutaneous Albinism																													uc003zkv.3																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(583-585)TCA>TCC		tyrosinase-related protein 1 precursor							96.0	95.0	96.0					9																	12695714		2203	4300	6503	SO:0001819	synonymous_variant	7306	Oculocutaneous_Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12695714A>C	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.585A>C	9.37:g.12695714A>C							p.S195S	NM_000550	NP_000541	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	3	763	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	195			Lumenal, melanosome (Potential).		P78468|P78469|Q13721|Q15679	Silent	SNP	ENST00000388918.5	37	c.585A>C	CCDS34990.1																																																																																				PASS	0.453	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		10	12	10	12	---	---	---	---
ELAVL2	1993	broad.mit.edu	37	9	23701421	23701421	+	Silent	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr9:23701421G>A	ENST00000397312.2	-	5	943	c.669C>T	c.(667-669)aaC>aaT	p.N223N	ELAVL2_ENST00000223951.6_Silent_p.N223N|ELAVL2_ENST00000380110.4_Silent_p.N252N|ELAVL2_ENST00000380117.1_Silent_p.N223N|ELAVL2_ENST00000544538.1_Silent_p.N223N	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	223					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.N223N(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GATACCTTCTGTTTGGAGACT	0.488																																						uc003zpu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(667-669)AAC>AAT		ELAV (embryonic lethal, abnormal vision,							297.0	291.0	293.0					9																	23701421		2203	4300	6503	SO:0001819	synonymous_variant	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23701421G>A	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.669C>T	9.37:g.23701421G>A						ELAVL2_uc003zps.2_Silent_p.N223N|ELAVL2_uc003zpt.2_Silent_p.N223N|ELAVL2_uc003zpv.2_Silent_p.N223N|ELAVL2_uc003zpw.2_Silent_p.N223N	p.N223N	NM_004432	NP_004423	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	5	944	-			223					D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Silent	SNP	ENST00000397312.2	37	c.669C>T	CCDS6515.1																																																																																				PASS	0.488	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		39	50	39	50	---	---	---	---
HINT2	84681	broad.mit.edu	37	9	35813519	35813519	+	Nonsense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr9:35813519G>A	ENST00000259667.5	-	3	291	c.250C>T	c.(250-252)Cag>Tag	p.Q84*	AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000479751.1_5'Flank|HINT2_ENST00000474908.1_5'UTR|TMEM8B_ENST00000377996.1_5'Flank|SPAG8_ENST00000340291.2_5'Flank|SPAG8_ENST00000396638.2_5'Flank|SPAG8_ENST00000484764.1_5'Flank	NM_032593.2	NP_115982.1	Q9BX68	HINT2_HUMAN	histidine triad nucleotide binding protein 2	84	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				apoptotic process (GO:0006915)|steroid biosynthetic process (GO:0006694)	mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)	p.Q84*(1)		NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			ACAGGAGCCTGAGGGGCCACA	0.542											OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(185;1694 2122 5473 25431 37228)	uc003zyh.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(250-252)CAG>TAG		PKCI-1-related HIT protein precursor							55.0	54.0	54.0					9																	35813519		2203	4300	6503	SO:0001587	stop_gained	84681				apoptosis|steroid biosynthetic process	mitochondrion	hydrolase activity	g.chr9:35813519G>A	AY033094	CCDS6594.1	9p11.2	2005-12-20			ENSG00000137133	ENSG00000137133			18344	protein-coding gene	gene with protein product		609997					Standard	NM_032593		Approved		uc003zyh.3	Q9BX68	OTTHUMG00000019886	ENST00000259667.5:c.250C>T	9.37:g.35813519G>A	ENSP00000259667:p.Gln84*		OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	858	SPAG8_uc003zye.2_5'Flank|SPAG8_uc003zyf.2_5'Flank|SPAG8_uc003zyg.2_5'Flank|HINT2_uc003zyi.2_Nonsense_Mutation_p.Q80*	p.Q84*	NM_032593	NP_115982	Q9BX68	HINT2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		3	316	-	all_epithelial(49;0.161)		84			HIT.		Q5TCW3	Nonsense_Mutation	SNP	ENST00000259667.5	37	c.250C>T	CCDS6594.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688012	0.88639	.	.	ENSG00000137133	ENST00000259667	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	0.4547	15.4246	0.75041	0.0:0.0:1.0:0.0	.	.	.	.	X	84	.	ENSP00000259667:Q84X	Q	-	1	0	HINT2	35803519	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.348000	0.90064	2.476000	0.83614	0.655000	0.94253	CAG		PASS	0.542	HINT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052390.1	NM_032593		25	22	25	22	---	---	---	---
CENPP	401541	broad.mit.edu	37	9	95256390	95256390	+	Intron	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr9:95256390G>A	ENST00000375587.3	+	5	1079				ECM2_ENST00000444490.2_Missense_Mutation_p.S636L	NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P						CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.S636*(1)|p.S636L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						GGCCACATCTGATCTGTTTGT	0.423																																						uc004asf.3																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(1)|liver(1)	ovary(1)|skin(1)	2						c.(1906-1908)TCA>TTA		extracellular matrix protein 2 precursor							119.0	106.0	110.0					9																	95256390		876	1991	2867	SO:0001627	intron_variant	1842				cell-matrix adhesion		integrin binding	g.chr9:95256390G>A	AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.564+114249G>A	9.37:g.95256390G>A						CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron	p.S636L	NM_001393	NP_001384	O94769	ECM2_HUMAN			10	2057	-			Error:Variant_position_missing_in_O94769_after_alignment					B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Missense_Mutation	SNP	ENST00000375587.3	37	c.1907C>T	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	G	9.357	1.066950	0.20067	.	.	ENSG00000106823	ENST00000444490	T	0.49432	0.78	2.9	-0.377	0.12501	.	.	.	.	.	T	0.29190	0.0726	.	.	.	0.09310	N	1	B	0.17038	0.02	B	0.13407	0.009	T	0.18209	-1.0344	8	0.35671	T	0.21	.	4.7536	0.13073	0.0:0.2588:0.3309:0.4103	.	636	O94769-2	.	L	636	ENSP00000393971:S636L	ENSP00000393971:S636L	S	-	2	0	ECM2	94296211	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	0.169000	0.16641	-0.100000	0.12241	0.650000	0.86243	TCA		PASS	0.423	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267		26	60	26	60	---	---	---	---
ZNF484	83744	broad.mit.edu	37	9	95609565	95609565	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr9:95609565C>A	ENST00000375495.3	-	5	1652	c.1504G>T	c.(1504-1506)Ggt>Tgt	p.G502C	ZNF484_ENST00000395506.3_Missense_Mutation_p.G504C|ZNF484_ENST00000395505.2_Missense_Mutation_p.G466C|ZNF484_ENST00000332591.6_Missense_Mutation_p.G466C|ANKRD19P_ENST00000473204.1_RNA	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	502			G -> D (in dbSNP:rs3739602).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G502C(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AAGGCCTTACCACACACAGTA	0.378																																						uc004asu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1504-1506)GGT>TGT		zinc finger protein 484 isoform a							89.0	94.0	92.0					9																	95609565		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95609565C>A	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1504G>T	9.37:g.95609565C>A	ENSP00000364645:p.Gly502Cys					ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.G504C|ZNF484_uc010mrb.1_Missense_Mutation_p.G466C|ZNF484_uc004asv.1_Missense_Mutation_p.G466C	p.G502C	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN			5	1653	-			502			C2H2-type 9.		B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.1504G>T	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	15.44	2.835503	0.50951	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	2.32	2.32	0.28847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.80276	0.4593	H	0.96547	3.84	0.39376	D	0.966179	D;D	0.89917	1.0;1.0	D;D	0.66979	0.948;0.948	D	0.85458	0.1165	9	0.72032	D	0.01	.	10.8132	0.46559	0.0:1.0:0.0:0.0	.	504;502	B4DRI2;Q5JVG2	.;ZN484_HUMAN	C	466;504;502;466	ENSP00000378881:G466C;ENSP00000378882:G504C;ENSP00000364645:G502C;ENSP00000364646:G466C	ENSP00000364646:G466C	G	-	1	0	ZNF484	94649386	0.992000	0.36948	0.998000	0.56505	0.818000	0.46254	3.689000	0.54706	1.618000	0.50286	0.545000	0.68477	GGT		PASS	0.378	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		4	29	4	29	---	---	---	---
CCDC180	100499483	broad.mit.edu	37	9	100124649	100124649	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr9:100124649C>G	ENST00000357054.1	+	40	4697	c.3762C>G	c.(3760-3762)ttC>ttG	p.F1254L	CCDC180_ENST00000375202.2_Missense_Mutation_p.F1320L|CCDC180_ENST00000529487.1_Missense_Mutation_p.F1320L|MIR1302-8_ENST00000408342.1_RNA|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1254						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.F1320L(1)|p.F1254L(1)									CCAAAGGCTTCAAGCGACATC	0.617																																						uc011lut.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|skin(1)	7						c.(4375-4377)TTC>TTG		hypothetical protein LOC57653							138.0	137.0	137.0					9																	100124649		2203	4300	6503	SO:0001583	missense	57653							g.chr9:100124649C>G	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3762C>G	9.37:g.100124649C>G	ENSP00000349562:p.Phe1254Leu					KIAA1529_uc004axe.1_Missense_Mutation_p.F1254L|KIAA1529_uc004axg.1_Missense_Mutation_p.F1320L|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.F439L	p.F1459L	NM_020893	NP_065944					40	5150	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.4377C>G		.	.	.	.	.	.	.	.	.	.	C	4.492	0.091213	0.08632	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.07114	3.26;3.22;3.22	4.46	-2.26	0.06867	.	0.860667	0.10111	N	0.714683	T	0.02083	0.0065	N	0.00707	-1.245	0.32368	N	0.556264	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.51044	-0.8755	10	0.02654	T	1	0.559	12.7762	0.57451	0.0876:0.7154:0.1969:0.0	.	1459;1254	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	L	1254;1320;1320	ENSP00000349562:F1254L;ENSP00000364348:F1320L;ENSP00000434727:F1320L	ENSP00000349562:F1254L	F	+	3	2	C9orf174	99164470	0.000000	0.05858	0.107000	0.21349	0.081000	0.17604	-1.137000	0.03219	-0.421000	0.07416	-0.165000	0.13383	TTC		PASS	0.617	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		63	47	63	47	---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104357046	104357046	+	Intron	SNP	G	G	A	rs201878659	byFrequency	TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr9:104357046G>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.P56L	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.P56L(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CCGCACCAACGGGTTGTGGCG	0.562													G|||	2	0.000399361	0.0	0.0014	5008	,	,		16493	0.001		0.0	False		,,,				2504	0.0					uc004bbr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(166-168)CCG>CTG		protein phosphatase 3 regulatory subunit B, beta	Cyclosporine(DB00091)						68.0	67.0	67.0					9																	104357046		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104357046G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15404C>T	9.37:g.104357046G>A						GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron	p.P56L	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN			1	238	-		Acute lymphoblastic leukemia(62;0.0527)	53			EF-hand 2.		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.167C>T	CCDS6758.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.43	3.387472	0.61956	.	.	ENSG00000188386	ENST00000374806;ENST00000541976	T	0.40756	1.02	3.94	3.94	0.45596	EF-hand-like domain (1);	0.000000	0.39544	N	0.001334	T	0.61261	0.2333	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.65689	-0.6107	10	0.87932	D	0	-19.5863	14.2872	0.66254	0.0:0.0:1.0:0.0	.	53	Q96LZ3	CANB2_HUMAN	L	56	ENSP00000363939:P56L	ENSP00000363939:P56L	P	-	2	0	PPP3R2	103396867	1.000000	0.71417	0.826000	0.32828	0.191000	0.23601	7.338000	0.79269	2.491000	0.84063	0.563000	0.77884	CCG		PASS	0.562	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			38	28	38	28	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117853072	117853072	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr9:117853072C>A	ENST00000350763.4	-	2	637	c.226G>T	c.(226-228)Gac>Tac	p.D76Y	TNC_ENST00000341037.4_Missense_Mutation_p.D76Y|TNC_ENST00000542877.1_Missense_Mutation_p.D76Y|TNC_ENST00000346706.3_Missense_Mutation_p.D76Y|TNC_ENST00000340094.3_Missense_Mutation_p.D76Y|TNC_ENST00000537320.1_Missense_Mutation_p.D76Y|TNC_ENST00000423613.2_Missense_Mutation_p.D76Y|TNC_ENST00000535648.1_Missense_Mutation_p.D76Y|TNC_ENST00000345230.3_Missense_Mutation_p.D76Y	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	76					bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.D76Y(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGTGCCAGGTCTTTCTCCCCA	0.547																																						uc004bjj.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(226-228)GAC>TAC		tenascin C precursor							158.0	150.0	153.0					9																	117853072		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117853072C>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.226G>T	9.37:g.117853072C>A	ENSP00000265131:p.Asp76Tyr					TNC_uc010mvf.2_Missense_Mutation_p.D76Y	p.D76Y	NM_002160	NP_002151	P24821	TENA_HUMAN			2	588	-			76					C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.226G>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460622	0.63513	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877;ENST00000534839	T;T;T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	5.94	5.04	0.67666	.	0.291610	0.36167	N	0.002745	T	0.40015	0.1100	L	0.48642	1.525	0.42382	D	0.992492	D;P	0.60575	0.988;0.897	P;B	0.53722	0.733;0.285	T	0.21177	-1.0253	10	0.87932	D	0	.	13.649	0.62299	0.0:0.9263:0.0:0.0737	.	76;76	E9PC84;P24821	.;TENA_HUMAN	Y	76	ENSP00000344400:D76Y;ENSP00000438152:D76Y;ENSP00000344555:D76Y;ENSP00000345861:D76Y;ENSP00000265131:D76Y;ENSP00000339553:D76Y;ENSP00000411406:D76Y;ENSP00000443478:D76Y;ENSP00000442242:D76Y;ENSP00000443469:D76Y	ENSP00000344400:D76Y	D	-	1	0	TNC	116892893	0.997000	0.39634	0.998000	0.56505	0.731000	0.41821	3.343000	0.52167	2.803000	0.96430	0.655000	0.94253	GAC		PASS	0.547	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		80	56	80	56	---	---	---	---
PRRC2B	84726	broad.mit.edu	37	9	134305587	134305587	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr9:134305587C>T	ENST00000357304.4	+	1	111	c.56C>T	c.(55-57)tCg>tTg	p.S19L	PRRC2B_ENST00000405995.1_Missense_Mutation_p.S19L|PRRC2B_ENST00000458550.1_Missense_Mutation_p.S19L	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	19							poly(A) RNA binding (GO:0044822)	p.S19L(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGCAAGTACTCGACTCTCAGC	0.458																																						uc004can.3																			2	Substitution - Missense(2)		lung(2)		0						c.(55-57)TCG>TTG		HLA-B associated transcript 2-like							77.0	75.0	76.0					9																	134305587		1939	4132	6071	SO:0001583	missense	84726						protein binding	g.chr9:134305587C>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.56C>T	9.37:g.134305587C>T	ENSP00000349856:p.Ser19Leu					BAT2L1_uc004cam.1_Missense_Mutation_p.S19L	p.S19L	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			1	111	+			19					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.56C>T	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	36	5.716758	0.96830	.	.	ENSG00000130723	ENST00000405995;ENST00000541684;ENST00000357304;ENST00000458550	T;T;T	0.24908	1.83;1.83;1.83	6.17	6.17	0.99709	BAT2, N-terminal (1);	0.000000	0.35436	U	0.003206	T	0.50051	0.1593	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.32481	-0.9905	10	0.62326	D	0.03	-4.7213	19.8676	0.96824	0.0:1.0:0.0:0.0	.	19	Q5JSZ5	PRC2B_HUMAN	L	19	ENSP00000384606:S19L;ENSP00000349856:S19L;ENSP00000398853:S19L	ENSP00000349856:S19L	S	+	2	0	PRRC2B	133295408	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.773000	0.68898	2.941000	0.99782	0.655000	0.94253	TCG		PASS	0.458	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				22	20	22	20	---	---	---	---
POMT1	10585	broad.mit.edu	37	9	134393924	134393924	+	Splice_Site	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr9:134393924G>T	ENST00000372228.3	+	14	1610	c.1431G>T	c.(1429-1431)aaG>aaT	p.K477N	POMT1_ENST00000402686.3_Splice_Site_p.K455N|POMT1_ENST00000341012.7_Splice_Site_p.K401N|RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000541219.1_Splice_Site_p.K233N|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000423007.1_Splice_Site_p.K455N|POMT1_ENST00000354713.4_Splice_Site_p.K425N|POMT1_ENST00000404875.2_Splice_Site_p.K338N|POMT1_ENST00000419118.2_Splice_Site_p.K303N	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	477	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)	p.K477N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		CTGTCTTAAAGGTAAGGACAC	0.552																																						uc004cav.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1429-1431)AAG>AAT		protein-O-mannosyltransferase 1 isoform a							161.0	151.0	154.0					9																	134393924		2203	4300	6503	SO:0001630	splice_region_variant	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134393924G>T	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.1431+1G>T	9.37:g.134393924G>T						POMT1_uc004cax.2_Missense_Mutation_p.K455N|POMT1_uc011mcj.1_Missense_Mutation_p.K233N|POMT1_uc004cau.2_Missense_Mutation_p.K455N|POMT1_uc004caw.2_Missense_Mutation_p.K401N|POMT1_uc011mck.1_Missense_Mutation_p.K338N|POMT1_uc011mcl.1_Missense_Mutation_p.K303N|POMT1_uc011mcm.1_Missense_Mutation_p.K425N|POMT1_uc011mcn.1_Missense_Mutation_p.K180N	p.K477N	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	14	1633	+		Myeloproliferative disorder(178;0.204)	477			MIR 3.		B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	c.1431G>T	CCDS6943.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470277	0.63625	.	.	ENSG00000130714	ENST00000423007;ENST00000404875;ENST00000341012;ENST00000372228;ENST00000402686;ENST00000419118;ENST00000541219;ENST00000354713;ENST00000372220	D;D;D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-1.82	5.47	5.47	0.80525	MIR motif (2);MIR (2);	0.140236	0.64402	D	0.000006	D	0.93703	0.7988	M	0.83312	2.635	0.80722	D	1	D;D;D;D;D	0.76494	0.988;0.999;0.993;0.999;0.991	D;D;D;D;D	0.76071	0.909;0.987;0.955;0.945;0.965	D	0.94132	0.7389	10	0.62326	D	0.03	-22.198	16.4948	0.84237	0.0:0.0:1.0:0.0	.	180;425;233;477;455	B4DU61;B4DTW4;B4DI80;Q9Y6A1;Q9Y6A1-2	.;.;.;POMT1_HUMAN;.	N	455;338;401;477;455;303;233;425;76	ENSP00000404119:K455N;ENSP00000384531:K338N;ENSP00000343034:K401N;ENSP00000361302:K477N;ENSP00000385797:K455N;ENSP00000403032:K303N;ENSP00000440895:K233N;ENSP00000346748:K425N;ENSP00000361294:K76N	ENSP00000343034:K401N	K	+	3	2	POMT1	133383745	1.000000	0.71417	0.997000	0.53966	0.036000	0.12997	8.864000	0.92294	2.553000	0.86117	0.655000	0.94253	AAG		PASS	0.552	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171	Missense_Mutation	9	194	9	194	---	---	---	---
SETX	23064	broad.mit.edu	37	9	135204730	135204730	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr9:135204730G>A	ENST00000224140.5	-	10	2437	c.2255C>T	c.(2254-2256)aCt>aTt	p.T752I	SETX_ENST00000393220.1_Missense_Mutation_p.T752I|SETX_ENST00000372169.2_Missense_Mutation_p.T752I	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	752					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.T752I(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CAAAGCATCAGTGCTAGAATC	0.373																																						uc004cbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2254-2256)ACT>ATT		senataxin							135.0	132.0	133.0					9																	135204730		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135204730G>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2255C>T	9.37:g.135204730G>A	ENSP00000224140:p.Thr752Ile					SETX_uc004cbj.2_Missense_Mutation_p.T371I|SETX_uc010mzt.2_Missense_Mutation_p.T371I	p.T752I	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	2438	-		Myeloproliferative disorder(178;0.204)	752					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.2255C>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431455	0.25813	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.87412	-2.16;-2.25;-1.87	5.59	0.237	0.15475	.	1.955730	0.02631	N	0.104298	T	0.79215	0.4408	L	0.29908	0.895	0.09310	N	1	B;B;B	0.11235	0.004;0.001;0.004	B;B;B	0.14023	0.01;0.001;0.01	T	0.61491	-0.7052	10	0.62326	D	0.03	.	1.3434	0.02159	0.2477:0.2788:0.3382:0.1352	.	752;752;752	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	I	752	ENSP00000224140:T752I;ENSP00000361242:T752I;ENSP00000376913:T752I	ENSP00000224140:T752I	T	-	2	0	SETX	134194551	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-0.097000	0.11042	-0.218000	0.10018	0.655000	0.94253	ACT		PASS	0.373	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		36	21	36	21	---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	372998	372998	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr10:372998C>T	ENST00000280886.6	-	31	3959	c.3872G>A	c.(3871-3873)cGg>cAg	p.R1291Q		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1291						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.R1291Q(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCTGACGGCCCGCGGGTGAAG	0.607																																						uc001ifp.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|ovary(2)|large_intestine(1)	7						c.(3871-3873)CGG>CAG		DIP2 disco-interacting protein 2 homolog C							81.0	68.0	73.0					10																	372998		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:372998C>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3872G>A	10.37:g.372998C>T	ENSP00000280886:p.Arg1291Gln						p.R1291Q	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	31	3962	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1291					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.3872G>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	37	6.198549	0.97367	.	.	ENSG00000151240	ENST00000280886;ENST00000535541;ENST00000381503	T	0.41065	1.01	5.91	5.91	0.95273	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.64940	0.2644	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.58901	-0.7554	10	0.36615	T	0.2	-32.8803	20.2985	0.98592	0.0:1.0:0.0:0.0	.	1291	Q9Y2E4	DIP2C_HUMAN	Q	1291;216;140	ENSP00000280886:R1291Q	ENSP00000280886:R1291Q	R	-	2	0	DIP2C	362998	1.000000	0.71417	0.995000	0.50966	0.851000	0.48451	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	CGG		PASS	0.607	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		10	17	10	17	---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7608015	7608015	+	Silent	SNP	G	G	T	rs149503594		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr10:7608015G>T	ENST00000256861.6	-	13	2583	c.2505C>A	c.(2503-2505)tcC>tcA	p.S835S	ITIH5_ENST00000298441.6_Silent_p.S621S|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000446830.2_Silent_p.S617S	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	835					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S835S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGCAGTTGCTGGAAAGGCCCT	0.557																																						uc001ijq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(2503-2505)TCC>TCA		inter-alpha trypsin inhibitor heavy chain							100.0	97.0	98.0					10																	7608015		2203	4300	6503	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7608015G>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2505C>A	10.37:g.7608015G>T						ITIH5_uc001ijp.2_Silent_p.S621S	p.S835S	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			13	2584	-			835					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.2505C>A																																																																																					PASS	0.557	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		23	30	23	30	---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7679442	7679442	+	Splice_Site	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr10:7679442C>G	ENST00000256861.6	-	5	480		c.e5-1		ITIH5_ENST00000397145.2_Splice_Site|ITIH5_ENST00000397146.2_Splice_Site|ITIH5_ENST00000446830.2_Splice_Site|ITIH5_ENST00000434980.1_Splice_Site	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5						hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CCCCTTCTCTCTGTCAGGAAA	0.547																																						uc001ijq.2																			2	Unknown(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.e5-1		inter-alpha trypsin inhibitor heavy chain							52.0	58.0	56.0					10																	7679442		2203	4300	6503	SO:0001630	splice_region_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7679442C>G			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.402-1G>C	10.37:g.7679442C>G						ITIH5_uc001ijr.1_Splice_Site_p.G134_splice	p.G134_splice	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			5	481	-								Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Splice_Site	SNP	ENST00000256861.6	37	c.402_splice		.	.	.	.	.	.	.	.	.	.	C	10.63	1.405259	0.25378	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9365	0.97143	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITIH5	7719448	1.000000	0.71417	1.000000	0.80357	0.166000	0.22503	4.634000	0.61325	2.715000	0.92844	0.655000	0.94253	.		PASS	0.547	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569	Intron	19	22	19	22	---	---	---	---
TAF3	83860	broad.mit.edu	37	10	8007024	8007024	+	Silent	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr10:8007024C>A	ENST00000344293.5	+	3	1757	c.1551C>A	c.(1549-1551)tcC>tcA	p.S517S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	517	Lys-rich.				maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)	p.S517S(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGCTGCCTTCCTCCGTGGAGG	0.443																																						uc010qbd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1549-1551)TCC>TCA		RNA polymerase II transcription factor TAFII140							71.0	67.0	69.0					10																	8007024		1852	4100	5952	SO:0001819	synonymous_variant	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8007024C>A	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1551C>A	10.37:g.8007024C>A							p.S517S	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			3	1551	+			517			Lys-rich.		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	ENST00000344293.5	37	c.1551C>A	CCDS41487.1																																																																																				PASS	0.443	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		5	35	5	35	---	---	---	---
SPAG6	9576	broad.mit.edu	37	10	22675703	22675703	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr10:22675703G>C	ENST00000376624.3	+	5	635	c.493G>C	c.(493-495)Gat>Cat	p.D165H	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.D140H|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000376603.2_Missense_Mutation_p.D241H|SPAG6_ENST00000313311.6_Missense_Mutation_p.D165H	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	165					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.D165H(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AGCTGTGGTGGATGCAGGAGC	0.458																																						uc001iri.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(493-495)GAT>CAT		sperm associated antigen 6 isoform 1							104.0	97.0	100.0					10																	22675703		2203	4300	6503	SO:0001583	missense	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22675703G>C	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.493G>C	10.37:g.22675703G>C	ENSP00000365811:p.Asp165His					SPAG6_uc001irj.2_Missense_Mutation_p.D165H|SPAG6_uc010qct.1_Missense_Mutation_p.D135H|SPAG6_uc009xkh.2_Missense_Mutation_p.D143H	p.D165H	NM_012443	NP_036575	O75602	SPAG6_HUMAN			5	635	+			165			ARM 4.		A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	c.493G>C	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054425	0.75960	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311;ENST00000435326	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;0.57	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.041866	0.85682	D	0.000000	D	0.89543	0.6745	H	0.95645	3.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.987;0.991;0.993	D	0.91917	0.5544	10	0.87932	D	0	-37.3087	19.9756	0.97304	0.0:0.0:1.0:0.0	.	140;241;165;165	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	H	165;241;140;165;241	ENSP00000365811:D165H;ENSP00000365788:D241H;ENSP00000441325:D140H;ENSP00000323599:D165H;ENSP00000406594:D241H	ENSP00000323599:D165H	D	+	1	0	SPAG6	22715709	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.916000	0.87491	2.793000	0.96121	0.563000	0.77884	GAT		PASS	0.458	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			6	6	6	6	---	---	---	---
NRP1	8829	broad.mit.edu	37	10	33552639	33552639	+	Nonsense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr10:33552639G>C	ENST00000265371.4	-	5	1118	c.593C>G	c.(592-594)tCa>tGa	p.S198*	NRP1_ENST00000395995.1_Nonsense_Mutation_p.S198*|NRP1_ENST00000374875.1_Nonsense_Mutation_p.S17*|NRP1_ENST00000374816.3_Nonsense_Mutation_p.S198*|NRP1_ENST00000374867.2_Nonsense_Mutation_p.S198*|NRP1_ENST00000374822.4_Nonsense_Mutation_p.S198*|NRP1_ENST00000374821.5_Nonsense_Mutation_p.S198*|NRP1_ENST00000374823.5_Nonsense_Mutation_p.S198*|NRP1_ENST00000432372.2_Nonsense_Mutation_p.S198*			O14786	NRP1_HUMAN	neuropilin 1	198	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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.S198*(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)	TGGAGGATTTGAGTCAGGCTC	0.463																																					Melanoma(104;886 1489 44640 45944 51153)	uc001iwx.3																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(592-594)TCA>TGA		neuropilin 1 isoform a	Palifermin(DB00039)|Pegaptanib(DB04895)						75.0	77.0	76.0					10																	33552639		2203	4300	6503	SO:0001587	stop_gained	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.chr10:33552639G>C	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.593C>G	10.37:g.33552639G>C	ENSP00000265371:p.Ser198*					NRP1_uc001iwv.3_Nonsense_Mutation_p.S198*|NRP1_uc009xlz.2_Nonsense_Mutation_p.S198*|NRP1_uc001iww.3_Nonsense_Mutation_p.S17*|NRP1_uc001iwy.3_Nonsense_Mutation_p.S198*|NRP1_uc001iwz.2_Nonsense_Mutation_p.S198*|NRP1_uc001ixa.2_Nonsense_Mutation_p.S198*|NRP1_uc001ixb.1_Nonsense_Mutation_p.S198*|NRP1_uc001ixc.1_Nonsense_Mutation_p.S198*	p.S198*	NM_003873	NP_003864	O14786	NRP1_HUMAN			4	1116	-			198			Extracellular (Potential).|CUB 2.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Nonsense_Mutation	SNP	ENST00000265371.4	37	c.593C>G	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	G	38	6.826584	0.97869	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000374818	.	.	.	5.76	5.76	0.90799	.	0.649699	0.16385	N	0.216730	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.1371	19.9664	0.97271	0.0:0.0:1.0:0.0	.	.	.	.	X	198;17;198;198;198;198;198;198;17	.	ENSP00000265371:S198X	S	-	2	0	NRP1	33592645	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	5.524000	0.67105	2.718000	0.92993	0.655000	0.94253	TCA		PASS	0.463	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			5	32	5	32	---	---	---	---
AGAP7P	653268	broad.mit.edu	37	10	51465352	51465352	+	Silent	SNP	C	C	A	rs4043643		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr10:51465352C>A	ENST00000374095.5	-	7	1229	c.1104G>T	c.(1102-1104)ccG>ccT	p.P368P		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		368	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.P368P(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GAGAGGGGGGCGGGTTGAGCT	0.512																																						uc001jio.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1102-1104)CCG>CCT		ArfGAP with GTPase domain, ankyrin repeat and PH							50.0	63.0	58.0					10																	51465352		2183	4267	6450	SO:0001819	synonymous_variant	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51465352C>A																												ENST00000374095.5:c.1104G>T	10.37:g.51465352C>A						PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	p.P368P	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN			7	1230	-			368			PH.		A6NGH4	Silent	SNP	ENST00000374095.5	37	c.1104G>T	CCDS41524.1																																																																																				PASS	0.512	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			83	117	83	117	---	---	---	---
TMEM26	219623	broad.mit.edu	37	10	63212763	63212763	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr10:63212763C>A	ENST00000399298.3	-	1	445	c.77G>T	c.(76-78)cGa>cTa	p.R26L	TMEM26_ENST00000399293.1_Missense_Mutation_p.R26L|RP11-809M12.1_ENST00000389640.4_RNA	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	26						integral component of membrane (GO:0016021)		p.R26L(1)		kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					CTCGGTCACTCGCCAGACCCC	0.632																																						uc001jlo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(76-78)CGA>CTA		transmembrane protein 26							67.0	79.0	75.0					10																	63212763		2064	4202	6266	SO:0001583	missense	219623					integral to membrane		g.chr10:63212763C>A	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.77G>T	10.37:g.63212763C>A	ENSP00000382237:p.Arg26Leu					TMEM26_uc010qij.1_RNA|TMEM26_uc001jlq.2_RNA|uc001jlr.2_RNA	p.R26L	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN			1	446	-	Prostate(12;0.0112)		26					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.77G>T	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110909	0.94292	.	.	ENSG00000196932	ENST00000399298;ENST00000399293	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.77356	0.4118	L	0.58810	1.83	0.47862	D	0.999535	D	0.89917	1.0	D	0.91635	0.999	T	0.78836	-0.2047	9	0.72032	D	0.01	-26.2497	18.7853	0.91952	0.0:1.0:0.0:0.0	.	26	Q6ZUK4	TMM26_HUMAN	L	26	.	ENSP00000382232:R26L	R	-	2	0	TMEM26	62882769	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.829000	0.62737	2.671000	0.90904	0.655000	0.94253	CGA		PASS	0.632	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		5	71	5	71	---	---	---	---
CH25H	9023	broad.mit.edu	37	10	90966727	90966727	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr10:90966727G>A	ENST00000371852.2	-	1	344	c.323C>T	c.(322-324)gCc>gTc	p.A108V		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	108					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholesterol 25-hydroxylase activity (GO:0001567)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)	p.A108V(1)		kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		CGGGCTGCGGGCCCAATGCAG	0.627																																						uc001kfz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(322-324)GCC>GTC		cholesterol 25-hydroxylase							35.0	37.0	37.0					10																	90966727		2203	4300	6503	SO:0001583	missense	9023				bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding	g.chr10:90966727G>A	AF059212	CCDS7400.1	10q23	2013-03-04			ENSG00000138135	ENSG00000138135	1.14.99.38	"""Fatty acid hydroxylase domain containing"""	1907	protein-coding gene	gene with protein product		604551				9852097	Standard	NM_003956		Approved		uc001kfz.3	O95992	OTTHUMG00000018705	ENST00000371852.2:c.323C>T	10.37:g.90966727G>A	ENSP00000360918:p.Ala108Val						p.A108V	NM_003956	NP_003947	O95992	CH25H_HUMAN		GBM - Glioblastoma multiforme(2;0.000133)	1	345	-		Colorectal(252;0.0161)	108					B2RBY3	Missense_Mutation	SNP	ENST00000371852.2	37	c.323C>T	CCDS7400.1	.	.	.	.	.	.	.	.	.	.	G	4.072	0.011139	0.07912	.	.	ENSG00000138135	ENST00000371852	T	0.69806	-0.43	5.3	-1.49	0.08718	.	1.180280	0.05936	N	0.636024	T	0.44540	0.1298	N	0.25144	0.715	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14227	-1.0480	10	0.17369	T	0.5	-7.0895	1.9073	0.03280	0.3355:0.0888:0.3935:0.1822	.	108	O95992	CH25H_HUMAN	V	108	ENSP00000360918:A108V	ENSP00000360918:A108V	A	-	2	0	CH25H	90956707	0.240000	0.23847	0.016000	0.15963	0.393000	0.30537	0.429000	0.21412	-0.145000	0.11294	-0.133000	0.14855	GCC		PASS	0.627	CH25H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049291.1	NM_003956		15	6	15	6	---	---	---	---
CPEB3	22849	broad.mit.edu	37	10	93841226	93841226	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr10:93841226C>A	ENST00000265997.4	-	9	1892	c.1720G>T	c.(1720-1722)Ggt>Tgt	p.G574C	CPEB3_ENST00000412050.4_Missense_Mutation_p.G560C	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	574	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|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)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)	p.G574C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				CAGACACCACCATACAAACGG	0.473																																						uc001khw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1720-1722)GGT>TGT		cytoplasmic polyadenylation element binding							88.0	76.0	80.0					10																	93841226		2203	4300	6503	SO:0001583	missense	22849						nucleotide binding|RNA binding	g.chr10:93841226C>A	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1720G>T	10.37:g.93841226C>A	ENSP00000265997:p.Gly574Cys					CPEB3_uc001khu.1_Missense_Mutation_p.G583C|CPEB3_uc001khv.1_Missense_Mutation_p.G560C|CPEB3_uc010qnn.1_Missense_Mutation_p.G560C	p.G574C	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN			9	1893	-		Colorectal(252;0.0869)	574			RRM 2.		Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	37	c.1720G>T	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019109	0.93462	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.16196	2.36;2.36	5.81	5.81	0.92471	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.57140	0.2033	H	0.94423	3.535	0.80722	D	1	P;D;D	0.89917	0.931;1.0;1.0	P;D;D	0.97110	0.867;1.0;1.0	T	0.68059	-0.5509	10	0.66056	D	0.02	-10.1372	20.0782	0.97758	0.0:1.0:0.0:0.0	.	574;560;560	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	C	560;560;574	ENSP00000398310:G560C;ENSP00000265997:G574C	ENSP00000265997:G574C	G	-	1	0	CPEB3	93831206	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	7.818000	0.86416	2.746000	0.94184	0.655000	0.94253	GGT		PASS	0.473	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		4	45	4	45	---	---	---	---
SLC35G1	159371	broad.mit.edu	37	10	95661025	95661025	+	Silent	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr10:95661025G>T	ENST00000427197.1	+	3	937	c.876G>T	c.(874-876)ggG>ggT	p.G292G	SLC35G1_ENST00000371408.3_Silent_p.G291G	NM_001134658.1|NM_153226.2	NP_001128130.1|NP_694958.1	Q2M3R5	S35G1_HUMAN	solute carrier family 35, member G1	292	EamA 2.				calcium ion export from cell (GO:1990034)|cytosolic calcium ion homeostasis (GO:0051480)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G291G(1)									TATTCATTGGGCTCTTTGGTT	0.428																																						uc001kjg.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(874-876)GGG>GGT		transmembrane protein 20 isoform 1							93.0	95.0	95.0					10																	95661025		2203	4300	6503	SO:0001819	synonymous_variant	159371					integral to membrane		g.chr10:95661025G>T	AK091309	CCDS7432.1, CCDS44459.1	10q23.33	2013-05-22	2011-08-03	2011-08-03	ENSG00000176273	ENSG00000176273		"""Solute carriers"""	26607	protein-coding gene	gene with protein product			"""transmembrane protein 20"""	TMEM20		21569384	Standard	NM_153226		Approved	FLJ33990, C10orf60	uc001kjg.2	Q2M3R5	OTTHUMG00000018779	ENST00000427197.1:c.876G>T	10.37:g.95661025G>T						TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Silent_p.G291G|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Silent_p.G275G|TMEM20_uc001kjj.2_Intron	p.G292G	NM_001134658	NP_001128130	Q2M3R5	TMM20_HUMAN		STAD - Stomach adenocarcinoma(243;0.00345)	3	937	+		Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189)	292			DUF6 2.|Helical; (Potential).		Q86YG5|Q8NBA5	Silent	SNP	ENST00000427197.1	37	c.876G>T	CCDS44459.1																																																																																				PASS	0.428	SLC35G1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_153226		12	12	12	12	---	---	---	---
SORBS1	10580	broad.mit.edu	37	10	97170424	97170424	+	Silent	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr10:97170424G>C	ENST00000361941.3	-	8	947	c.921C>G	c.(919-921)gtC>gtG	p.V307V	SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000306402.6_Silent_p.V184V|SORBS1_ENST00000371245.3_Silent_p.V238V|SORBS1_ENST00000371249.2_Silent_p.V275V|SORBS1_ENST00000353505.5_Silent_p.V238V|SORBS1_ENST00000371239.1_Silent_p.V152V|SORBS1_ENST00000354106.3_Silent_p.V298V|SORBS1_ENST00000371227.4_Silent_p.V307V|SORBS1_ENST00000371246.2_Silent_p.V307V|SORBS1_ENST00000393949.1_Silent_p.V298V|SORBS1_ENST00000371247.2_Silent_p.V307V|SORBS1_ENST00000371241.1_Silent_p.V143V|SORBS1_ENST00000607232.1_Silent_p.V152V|SORBS1_ENST00000277982.5_Silent_p.V307V|SORBS1_ENST00000347291.4_Silent_p.V175V	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.V238V(1)|p.V307V(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TAGTAGGATTGACAATCGTTG	0.463																																						uc001kkp.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(919-921)GTC>GTG		sorbin and SH3 domain containing 1 isoform 3							137.0	118.0	125.0					10																	97170424		2203	4300	6503	SO:0001819	synonymous_variant	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97170424G>C	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.921C>G	10.37:g.97170424G>C						SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Silent_p.V140V|SORBS1_uc001kkm.2_Silent_p.V163V|SORBS1_uc001kko.2_Silent_p.V307V|SORBS1_uc001kkq.2_Silent_p.V238V|SORBS1_uc001kkr.2_Silent_p.V143V|SORBS1_uc001kks.2_Silent_p.V143V|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Silent_p.V184V|SORBS1_uc001kkv.2_Silent_p.V275V|SORBS1_uc001kkw.2_Silent_p.V307V|SORBS1_uc010qoe.1_Silent_p.V152V|SORBS1_uc010qof.1_Silent_p.V505V	p.V307V	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	8	966	-		Colorectal(252;0.0429)	307						Silent	SNP	ENST00000361941.3	37	c.921C>G	CCDS31255.1																																																																																				PASS	0.463	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			12	26	12	26	---	---	---	---
SORBS1	10580	broad.mit.edu	37	10	97174525	97174525	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr10:97174525G>C	ENST00000361941.3	-	7	562	c.536C>G	c.(535-537)cCt>cGt	p.P179R	SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371249.2_Missense_Mutation_p.P147R|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000354106.3_Missense_Mutation_p.P170R|SORBS1_ENST00000371227.4_Missense_Mutation_p.P179R|SORBS1_ENST00000371246.2_Missense_Mutation_p.P179R|SORBS1_ENST00000393949.1_Missense_Mutation_p.P170R|SORBS1_ENST00000371247.2_Missense_Mutation_p.P179R|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.P179R|SORBS1_ENST00000347291.4_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.P179R(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGGTGTTGGAGGTCTGGCAGT	0.582																																						uc001kkp.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(535-537)CCT>CGT		sorbin and SH3 domain containing 1 isoform 3							63.0	66.0	65.0					10																	97174525		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97174525G>C	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.536C>G	10.37:g.97174525G>C	ENSP00000355136:p.Pro179Arg					SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Missense_Mutation_p.P179R|SORBS1_uc001kkq.2_Intron|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Missense_Mutation_p.P147R|SORBS1_uc001kkw.2_Missense_Mutation_p.P179R|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Missense_Mutation_p.P377R|SORBS1_uc001kkx.1_Missense_Mutation_p.P147R	p.P179R	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	7	581	-		Colorectal(252;0.0429)	179						Missense_Mutation	SNP	ENST00000361941.3	37	c.536C>G	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462721	0.63513	.	.	ENSG00000095637	ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000361941;ENST00000277982;ENST00000354106	T;T;T;T;T;T;T;T	0.13420	2.59;2.91;2.68;3.19;2.68;2.91;3.19;2.68	5.48	5.48	0.80851	.	0.628152	0.13315	N	0.397144	T	0.20901	0.0503	N	0.19112	0.55	0.80722	D	1	D;P;P;P;B;P	0.60160	0.987;0.773;0.903;0.879;0.177;0.919	P;B;P;P;B;P	0.53912	0.737;0.414;0.671;0.448;0.1;0.587	T	0.08066	-1.0740	10	0.72032	D	0.01	-0.7546	19.358	0.94422	0.0:0.0:1.0:0.0	.	377;147;179;147;179;179	B7Z9B7;F2Z2S3;Q9BX66-11;Q9BX66-10;Q9BX66;Q9BX66-2	.;.;.;.;SRBS1_HUMAN;.	R	147;179;179;179;170;179;179;170	ENSP00000360295:P147R;ENSP00000360293:P179R;ENSP00000360271:P179R;ENSP00000360292:P179R;ENSP00000377521:P170R;ENSP00000355136:P179R;ENSP00000277982:P179R;ENSP00000277984:P170R	ENSP00000277982:P179R	P	-	2	0	SORBS1	97164515	1.000000	0.71417	0.897000	0.35233	0.685000	0.39939	7.049000	0.76613	2.590000	0.87494	0.555000	0.69702	CCT		PASS	0.582	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			40	17	40	17	---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105166544	105166544	+	Silent	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr10:105166544G>A	ENST00000369797.3	+	7	961	c.867G>A	c.(865-867)caG>caA	p.Q289Q		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	289	S1 motif 3. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.Q289Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTCAGGTACAGAAGGTAAGCT	0.368																																						uc001kwy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(865-867)CAG>CAA		programmed cell death 11							87.0	81.0	83.0					10																	105166544		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105166544G>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.867G>A	10.37:g.105166544G>A							p.Q289Q	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	7	954	+		Colorectal(252;0.0747)|Breast(234;0.128)	289			S1 motif 3.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.867G>A	CCDS31276.1																																																																																				PASS	0.368	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			6	44	6	44	---	---	---	---
ITPRIP	85450	broad.mit.edu	37	10	106074526	106074526	+	Silent	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr10:106074526G>A	ENST00000337478.1	-	2	1455	c.1284C>T	c.(1282-1284)ctC>ctT	p.L428L	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000278071.2_Silent_p.L428L|ITPRIP_ENST00000358187.2_Silent_p.L428L	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	428						membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L428L(1)		breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GGTAGCTGCTGAGCCCGCTGG	0.667																																						uc001kye.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1282-1284)CTC>CTT		inositol 1,4,5-triphosphate receptor interacting							26.0	28.0	28.0					10																	106074526		2203	4300	6503	SO:0001819	synonymous_variant	85450					plasma membrane		g.chr10:106074526G>A	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.1284C>T	10.37:g.106074526G>A						ITPRIP_uc001kyf.2_Silent_p.L428L|ITPRIP_uc001kyg.2_Silent_p.L428L	p.L428L	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN			2	1357	-			428					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Silent	SNP	ENST00000337478.1	37	c.1284C>T	CCDS7557.1																																																																																				PASS	0.667	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		9	24	9	24	---	---	---	---
NRAP	4892	broad.mit.edu	37	10	115381824	115381824	+	Missense_Mutation	SNP	A	A	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr10:115381824A>T	ENST00000359988.3	-	24	2817	c.2573T>A	c.(2572-2574)cTg>cAg	p.L858Q	NRAP_ENST00000369358.4_Missense_Mutation_p.L866Q|NRAP_ENST00000360478.3_Missense_Mutation_p.L823Q|NRAP_ENST00000369360.3_Missense_Mutation_p.L831Q	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.L858Q(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTTGTACTCCAGCTCACTCTG	0.517																																						uc001laj.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(2572-2574)CTG>CAG		nebulin-related anchoring protein isoform S							201.0	154.0	170.0					10																	115381824		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115381824A>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2573T>A	10.37:g.115381824A>T	ENSP00000353078:p.Leu858Gln					NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.L823Q|NRAP_uc001lal.3_Missense_Mutation_p.L858Q	p.L858Q	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	24	2737	-		Colorectal(252;0.0233)|Breast(234;0.188)	858			Nebulin 21.			Missense_Mutation	SNP	ENST00000359988.3	37	c.2573T>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.947523	0.53186	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.99	5.99	0.97316	.	0.150662	0.44097	D	0.000499	T	0.63803	0.2542	M	0.66939	2.045	0.38585	D	0.950277	D;D;D	0.63046	0.992;0.983;0.985	D;D;D	0.73380	0.98;0.925;0.925	T	0.63928	-0.6526	10	0.25751	T	0.34	.	12.3543	0.55165	0.8595:0.1405:0.0:0.0	.	858;823;858	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	Q	866;831;858;823	ENSP00000358365:L866Q;ENSP00000358367:L831Q;ENSP00000353078:L858Q;ENSP00000353666:L823Q	ENSP00000353078:L858Q	L	-	2	0	NRAP	115371814	0.999000	0.42202	0.994000	0.49952	0.995000	0.86356	1.957000	0.40392	2.291000	0.77112	0.533000	0.62120	CTG		PASS	0.517	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		24	19	24	19	---	---	---	---
DHX32	55760	broad.mit.edu	37	10	127555576	127555576	+	Silent	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr10:127555576G>T	ENST00000284690.3	-	2	949	c.459C>A	c.(457-459)acC>acA	p.T153T	DHX32_ENST00000284688.6_Silent_p.T153T	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	153	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.T153T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTGTTTCGTTGGTACAGCAGT	0.502																																						uc001ljf.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|lung(1)	4						c.(457-459)ACC>ACA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32							172.0	137.0	149.0					10																	127555576		2203	4300	6503	SO:0001819	synonymous_variant	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127555576G>T		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.459C>A	10.37:g.127555576G>T						DHX32_uc001ljg.1_Silent_p.T153T	p.T153T	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN			2	950	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	153			Helicase ATP-binding.		A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Silent	SNP	ENST00000284690.3	37	c.459C>A	CCDS7652.1																																																																																				PASS	0.502	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		6	108	6	108	---	---	---	---
LRRC27	80313	broad.mit.edu	37	10	134175013	134175013	+	Missense_Mutation	SNP	C	C	A	rs571846495	byFrequency	TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr10:134175013C>A	ENST00000368614.3	+	9	1328	c.1223C>A	c.(1222-1224)cCa>cAa	p.P408Q	LRRC27_ENST00000368613.4_Missense_Mutation_p.P408Q|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368612.1_Missense_Mutation_p.P346Q|LRRC27_ENST00000432555.2_Missense_Mutation_p.P281Q|LRRC27_ENST00000368610.3_Missense_Mutation_p.P346Q|LRRC27_ENST00000475747.1_3'UTR	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	408								p.P408Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGGAAAGTACCACTGAATCCG	0.433													C|||	2	0.000399361	0.0	0.0	5008	,	,		18994	0.0		0.0	False		,,,				2504	0.002					uc010quw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1222-1224)CCA>CAA		leucine rich repeat containing 27 isoform a							125.0	128.0	127.0					10																	134175013		2203	4300	6503	SO:0001583	missense	80313							g.chr10:134175013C>A	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.1223C>A	10.37:g.134175013C>A	ENSP00000357603:p.Pro408Gln					LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Missense_Mutation_p.P408Q|LRRC27_uc001llj.2_Missense_Mutation_p.P346Q|LRRC27_uc001llk.3_Missense_Mutation_p.P281Q	p.P408Q	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	9	1418	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	408					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	c.1223C>A	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	C	7.928	0.740031	0.15642	.	.	ENSG00000148814	ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555	T;T;T;T;T	0.45668	2.61;2.61;4.36;4.36;0.89	3.36	1.49	0.22878	.	0.403473	0.18477	N	0.140047	T	0.45155	0.1328	L	0.43923	1.385	0.09310	N	1	D;D;P	0.55385	0.971;0.971;0.952	P;P;P	0.57425	0.82;0.755;0.665	T	0.26744	-1.0094	10	0.30854	T	0.27	-6.4777	9.118	0.36769	0.0:0.878:0.0:0.122	.	281;346;408	B4DW88;Q9C0I9-2;Q9C0I9	.;.;LRC27_HUMAN	Q	408;408;346;346;281	ENSP00000357603:P408Q;ENSP00000357602:P408Q;ENSP00000357601:P346Q;ENSP00000357599:P346Q;ENSP00000407949:P281Q	ENSP00000357599:P346Q	P	+	2	0	LRRC27	134025003	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.626000	0.24492	0.425000	0.26087	-0.940000	0.02684	CCA		PASS	0.433	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		9	227	9	227	---	---	---	---
OR51G1	79324	broad.mit.edu	37	11	4945326	4945326	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:4945326T>C	ENST00000321961.2	-	1	311	c.244A>G	c.(244-246)Act>Gct	p.T82A	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T82A(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCAGCACAGTGGGCAGTGTG	0.493																																						uc010qyr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(244-246)ACT>GCT		olfactory receptor, family 51, subfamily G,							96.0	84.0	88.0					11																	4945326		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945326T>C	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.244A>G	11.37:g.4945326T>C	ENSP00000322546:p.Thr82Ala						p.T82A	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	244	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	82			Extracellular (Potential).		B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.244A>G	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.667858	0.29604	.	.	ENSG00000176879	ENST00000321961	T	0.02916	4.11	4.2	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40469	U	0.001097	T	0.08223	0.0205	M	0.85542	2.76	0.09310	N	0.999999	P	0.45986	0.87	P	0.47251	0.542	T	0.08249	-1.0731	10	0.87932	D	0	.	8.4122	0.32651	0.0:0.0:0.1985:0.8015	.	82	Q8NGK1	O51G1_HUMAN	A	82	ENSP00000322546:T82A	ENSP00000322546:T82A	T	-	1	0	OR51G1	4901902	0.000000	0.05858	0.976000	0.42696	0.361000	0.29550	0.290000	0.18975	0.615000	0.30124	0.455000	0.32223	ACT		PASS	0.493	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		11	13	11	13	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6648290	6648290	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:6648290C>A	ENST00000299441.3	-	14	6391	c.5980G>T	c.(5980-5982)Ggt>Tgt	p.G1994C		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1994	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G1994C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCATTGGCACCAGCATCACGA	0.622																																						uc001mem.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(5980-5982)GGT>TGT		dachsous 1 precursor							49.0	43.0	45.0					11																	6648290		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6648290C>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5980G>T	11.37:g.6648290C>A	ENSP00000299441:p.Gly1994Cys						p.G1994C	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	14	6390	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1994			Cadherin 19.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.5980G>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968804	0.74131	.	.	ENSG00000166341	ENST00000299441	T	0.67698	-0.28	5.18	5.18	0.71444	Cadherin (3);Cadherin-like (1);	0.000000	0.48286	D	0.000200	D	0.84374	0.5458	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87083	0.2167	10	0.87932	D	0	.	15.9972	0.80260	0.0:1.0:0.0:0.0	.	1994	Q96JQ0	PCD16_HUMAN	C	1994	ENSP00000299441:G1994C	ENSP00000299441:G1994C	G	-	1	0	DCHS1	6604866	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.651000	0.83577	2.700000	0.92200	0.462000	0.41574	GGT		PASS	0.622	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		5	37	5	37	---	---	---	---
NLRP10	338322	broad.mit.edu	37	11	7982058	7982058	+	Missense_Mutation	SNP	C	C	G	rs375877314		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:7982058C>G	ENST00000328600.2	-	2	1262	c.1101G>C	c.(1099-1101)caG>caC	p.Q367H		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	367	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.Q367H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCTCTCCATCTGCCCCTGCA	0.522																																						uc001mfv.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(1099-1101)CAG>CAC		NLR family, pyrin domain containing 10							87.0	65.0	73.0					11																	7982058		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982058C>G	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1101G>C	11.37:g.7982058C>G	ENSP00000327763:p.Gln367His						p.Q367H	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1118	-			367			NACHT.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.1101G>C	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068232	0.36470	.	.	ENSG00000182261	ENST00000328600	T	0.80480	-1.38	5.25	4.32	0.51571	.	0.437866	0.17082	N	0.187728	D	0.88284	0.6395	M	0.85542	2.76	0.09310	N	0.999996	D	0.64830	0.994	P	0.61940	0.896	T	0.80185	-0.1487	10	0.62326	D	0.03	.	10.4079	0.44274	0.0:0.9045:0.0:0.0955	.	367	Q86W26	NAL10_HUMAN	H	367	ENSP00000327763:Q367H	ENSP00000327763:Q367H	Q	-	3	2	NLRP10	7938634	0.001000	0.12720	0.997000	0.53966	0.364000	0.29643	0.470000	0.22084	2.635000	0.89317	0.655000	0.94253	CAG		PASS	0.522	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		19	46	19	46	---	---	---	---
MICAL2	9645	broad.mit.edu	37	11	12280014	12280014	+	Splice_Site	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:12280014G>T	ENST00000256194.4	+	25	3430		c.e25-1		MICAL2_ENST00000379612.3_Splice_Site|RP11-265D17.2_ENST00000527288.1_RNA|MICAL2_ENST00000537344.1_Splice_Site|MICAL2_ENST00000342902.5_Splice_Site|MICAL2_ENST00000527546.1_Splice_Site	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2						actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCTTTTTACAGGCAAATTTTA	0.408																																						uc001mjz.2																			1	Unknown(1)		lung(1)	upper_aerodigestive_tract(2)	2						c.e25-1		microtubule associated monoxygenase, calponin							85.0	88.0	87.0					11																	12280014		2201	4294	6495	SO:0001630	splice_region_variant	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12280014G>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3143-1G>T	11.37:g.12280014G>T						MICAL2_uc010rch.1_Splice_Site_p.G858_splice|MICAL2_uc001mka.2_Splice_Site_p.G1048_splice|MICAL2_uc010rci.1_Splice_Site_p.G1027_splice|MICAL2_uc001mkb.2_Splice_Site_p.G822_splice|MICAL2_uc001mkc.2_Splice_Site_p.G801_splice|MICAL2_uc001mkd.2_Splice_Site_p.G630_splice|MICAL2_uc010rcj.1_Splice_Site_p.G260_splice|MICAL2_uc001mkf.2_Splice_Site	p.G1048_splice	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	25	3431	+								B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Splice_Site	SNP	ENST00000256194.4	37	c.3143_splice	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961531	0.74016	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4007	0.94629	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MICAL2	12236590	1.000000	0.71417	0.999000	0.59377	0.784000	0.44337	9.450000	0.97607	2.682000	0.91365	0.655000	0.94253	.		PASS	0.408	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632	Intron	6	107	6	107	---	---	---	---
C11orf58	10944	broad.mit.edu	37	11	16766187	16766187	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:16766187G>A	ENST00000228136.4	+	2	481	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	C11orf58_ENST00000422258.2_5'UTR|C11orf58_ENST00000527893.1_3'UTR|C11orf58_ENST00000525684.1_Missense_Mutation_p.E35K			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	35								p.E35K(1)		NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						CTTGGGTAATGAAGAGAGAAA	0.333																																						uc001mmk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(103-105)GAA>AAA		small acidic protein isoform a							103.0	96.0	98.0					11																	16766187		2200	4294	6494	SO:0001583	missense	10944							g.chr11:16766187G>A	BC007103	CCDS7822.1	11p15.1	2012-05-30			ENSG00000110696	ENSG00000110696			16990	protein-coding gene	gene with protein product	"""small acidic protein"""					9263035	Standard	NM_014267		Approved	SMAP	uc001mmk.2	O00193	OTTHUMG00000165910	ENST00000228136.4:c.103G>A	11.37:g.16766187G>A	ENSP00000228136:p.Glu35Lys					C11orf58_uc010rct.1_5'UTR	p.E35K	NM_014267	NP_055082	O00193	SMAP_HUMAN			2	281	+			35					B2RD28	Missense_Mutation	SNP	ENST00000228136.4	37	c.103G>A	CCDS7822.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547980	0.86022	.	.	ENSG00000110696	ENST00000228136;ENST00000528634;ENST00000525684	.	.	.	5.41	5.41	0.78517	.	0.101644	0.64402	D	0.000003	T	0.58163	0.2103	L	0.42245	1.32	0.80722	D	1	P	0.48694	0.914	P	0.46975	0.533	T	0.59220	-0.7495	9	0.48119	T	0.1	.	17.3274	0.87252	0.0:0.0:1.0:0.0	.	35	O00193	SMAP_HUMAN	K	35	.	ENSP00000228136:E35K	E	+	1	0	C11orf58	16722763	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.808000	0.62583	2.685000	0.91497	0.585000	0.79938	GAA		PASS	0.333	C11orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387023.2	NM_014267		10	16	10	16	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	31099473	31099473	+	Splice_Site	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:31099473C>T	ENST00000597505.1	-	16	2237		c.e16-1		DCDC1_ENST00000437348.1_Splice_Site			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction (GO:0035556)			p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCCACTATGTCTGTAACGAAA	0.368																																						uc009yjk.1																			1	Unknown(1)		lung(1)								c.e6-1		RecName: Full=Doublecortin domain-containing protein 5;							109.0	101.0	104.0					11																	31099473		1846	4093	5939	SO:0001630	splice_region_variant	0							g.chr11:31099473C>T	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2238-1G>A	11.37:g.31099473C>T						uc009yjl.1_Splice_Site_p.R122_splice|DCDC1_uc001msu.1_Splice_Site_p.R365_splice	p.R194_splice							6	651	-								A6PVL6|B7WNX6|Q6ZU04	Splice_Site	SNP	ENST00000597505.1	37	c.582_splice																																																																																					PASS	0.368	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807	Intron	6	6	6	6	---	---	---	---
TRIM48	79097	broad.mit.edu	37	11	55032762	55032762	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:55032762C>A	ENST00000417545.2	+	2	517	c.431C>A	c.(430-432)cCc>cAc	p.P144H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	128						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.P128H(1)|p.P144H(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACACTGTCCCGCTGAGTGG	0.493																																						uc010rid.1																			2	Substitution - Missense(2)		lung(2)		0						c.(430-432)CCC>CAC		tripartite motif-containing 48							45.0	42.0	43.0					11																	55032762		2187	4250	6437	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55032762C>A	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.431C>A	11.37:g.55032762C>A	ENSP00000402414:p.Pro144His						p.P144H	NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN			2	517	+			128			B box-type.		Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.431C>A	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	c	12.10	1.836684	0.32421	.	.	ENSG00000150244	ENST00000417545	T	0.50813	0.73	0.596	0.596	0.17496	Zinc finger, B-box (3);	.	.	.	.	T	0.65780	0.2724	M	0.84082	2.675	0.24871	N	0.99228	D	0.89917	1.0	D	0.81914	0.995	T	0.52109	-0.8619	9	0.87932	D	0	.	7.1377	0.25537	0.0:0.9999:0.0:1.0E-4	.	128	Q8IWZ4	TRI48_HUMAN	H	144	ENSP00000402414:P144H	ENSP00000402414:P144H	P	+	2	0	TRIM48	54789338	0.071000	0.21146	0.038000	0.18304	0.043000	0.13939	3.040000	0.49799	0.629000	0.30376	0.413000	0.27773	CCC		PASS	0.493	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			11	24	11	24	---	---	---	---
OR5D13	390142	broad.mit.edu	37	11	55541450	55541450	+	Silent	SNP	T	T	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:55541450T>C	ENST00000361760.1	+	1	537	c.537T>C	c.(535-537)ttT>ttC	p.F179F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F179F(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TAAATAATTTTATCTGTGACC	0.418																																						uc010ril.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(535-537)TTT>TTC		olfactory receptor, family 5, subfamily D,							112.0	110.0	111.0					11																	55541450		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541450T>C	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.537T>C	11.37:g.55541450T>C							p.F179F	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	537	+		all_epithelial(135;0.196)	179			Extracellular (Potential).		Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.537T>C	CCDS31507.1																																																																																				PASS	0.418	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		21	27	21	27	---	---	---	---
OR5R1	219479	broad.mit.edu	37	11	56184925	56184925	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:56184925G>C	ENST00000312253.1	-	1	783	c.784C>G	c.(784-786)Ccc>Gcc	p.P262A		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P262A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TTTGATTTGGGCTGTAGGTAC	0.448																																						uc010rji.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(784-786)CCC>GCC		olfactory receptor, family 5, subfamily R,							173.0	162.0	166.0					11																	56184925		2201	4296	6497	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56184925G>C	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.784C>G	11.37:g.56184925G>C	ENSP00000308595:p.Pro262Ala						p.P262A	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			1	784	-	Esophageal squamous(21;0.00448)		262			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000312253.1	37	c.784C>G	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109272	0.37242	.	.	ENSG00000174942	ENST00000312253	T	0.00269	8.37	5.62	4.66	0.58398	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32640	U	0.005831	T	0.00875	0.0029	H	0.97962	4.115	0.09310	N	1	D	0.71674	0.998	D	0.71414	0.973	T	0.25363	-1.0134	10	0.72032	D	0.01	-16.1943	9.2442	0.37515	0.0768:0.1472:0.776:0.0	.	262	Q8NH85	OR5R1_HUMAN	A	262	ENSP00000308595:P262A	ENSP00000308595:P262A	P	-	1	0	OR5R1	55941501	0.953000	0.32496	0.981000	0.43875	0.341000	0.28922	3.683000	0.54663	2.648000	0.89879	0.643000	0.83706	CCC		PASS	0.448	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		23	19	23	19	---	---	---	---
OR5M1	390168	broad.mit.edu	37	11	56380709	56380709	+	Missense_Mutation	SNP	C	C	A	rs532045516		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:56380709C>A	ENST00000526538.1	-	1	269	c.270G>T	c.(268-270)aaG>aaT	p.K90N		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K90N(1)|p.K90K(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AGGAGATGGTCTTCTGTTCTG	0.448																																						uc001nja.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	central_nervous_system(1)	1						c.(268-270)AAG>AAT		olfactory receptor, family 5, subfamily M,							148.0	139.0	142.0					11																	56380709		1927	4130	6057	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380709C>A	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.270G>T	11.37:g.56380709C>A	ENSP00000435416:p.Lys90Asn						p.K90N	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			1	270	-			90			Extracellular (Potential).		Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.270G>T	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.382617	0.42207	.	.	ENSG00000255012	ENST00000526538	T	0.02032	4.49	3.71	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	D	0.000857	T	0.08179	0.0204	L	0.54965	1.715	0.29148	N	0.878555	D	0.89917	1.0	D	0.69307	0.963	T	0.06303	-1.0834	10	0.30078	T	0.28	-53.0232	14.3562	0.66740	0.0:1.0:0.0:0.0	.	90	Q8NGP8	OR5M1_HUMAN	N	90	ENSP00000435416:K90N	ENSP00000435416:K90N	K	-	3	2	OR5M1	56137285	0.000000	0.05858	1.000000	0.80357	0.749000	0.42624	-0.726000	0.04936	1.949000	0.56562	0.280000	0.19369	AAG		PASS	0.448	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		20	55	20	55	---	---	---	---
OR5AR1	219493	broad.mit.edu	37	11	56431846	56431846	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:56431846C>T	ENST00000302969.2	+	1	709	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R229C(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CATCAGAATGCGTTCAGCTGA	0.478																																						uc010rjm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(685-687)CGT>TGT		olfactory receptor, family 5, subfamily AR,							161.0	136.0	145.0					11																	56431846		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431846C>T	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.685C>T	11.37:g.56431846C>T	ENSP00000302639:p.Arg229Cys						p.R229C	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			1	685	+			229			Cytoplasmic (Potential).		Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.685C>T	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	C	4.260	0.047333	0.08243	.	.	ENSG00000172459	ENST00000302969	T	0.40225	1.04	4.91	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	0.446534	0.19182	N	0.120646	T	0.36608	0.0973	M	0.66378	2.025	0.21020	N	0.9998	B	0.10296	0.003	B	0.06405	0.002	T	0.36407	-0.9749	10	0.62326	D	0.03	.	5.8326	0.18588	0.4193:0.4373:0.0:0.1434	.	229	Q8NGP9	O5AR1_HUMAN	C	229	ENSP00000302639:R229C	ENSP00000302639:R229C	R	+	1	0	OR5AR1	56188422	0.000000	0.05858	0.994000	0.49952	0.149000	0.21700	-0.966000	0.03825	0.622000	0.30249	0.573000	0.79308	CGT		PASS	0.478	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		21	24	21	24	---	---	---	---
MS4A2	2206	broad.mit.edu	37	11	59857872	59857872	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:59857872G>C	ENST00000278888.3	+	3	352	c.250G>C	c.(250-252)Gat>Cat	p.D84H		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	84					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)		p.D84H(1)		endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	CTCTGTACTTGATATTTCACA	0.323																																						uc001nop.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(250-252)GAT>CAT		membrane-spanning 4-domains, subfamily A, member	Omalizumab(DB00043)						214.0	205.0	208.0					11																	59857872		2201	4295	6496	SO:0001583	missense	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59857872G>C	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.250G>C	11.37:g.59857872G>C	ENSP00000278888:p.Asp84His					MS4A2_uc009ymu.2_Missense_Mutation_p.D84H	p.D84H	NM_000139	NP_000130	Q01362	FCERB_HUMAN			3	352	+		all_epithelial(135;0.245)	84			Extracellular (Potential).		Q54A81	Missense_Mutation	SNP	ENST00000278888.3	37	c.250G>C	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	G	7.434	0.639239	0.14386	.	.	ENSG00000149534	ENST00000278888	T	0.02369	4.32	4.68	-6.52	0.01872	.	3.205420	0.00775	N	0.001239	T	0.02267	0.0070	N	0.14661	0.345	0.09310	N	1	B;B	0.33777	0.425;0.425	B;B	0.43575	0.424;0.424	T	0.38735	-0.9647	10	0.16896	T	0.51	3.0E-4	1.5181	0.02510	0.2615:0.1274:0.3738:0.2373	.	14;84	Q14298;Q01362	.;FCERB_HUMAN	H	84	ENSP00000278888:D84H	ENSP00000278888:D84H	D	+	1	0	MS4A2	59614448	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.377000	0.02558	-1.143000	0.02866	-0.300000	0.09419	GAT		PASS	0.323	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1			30	38	30	38	---	---	---	---
MS4A13	503497	broad.mit.edu	37	11	60310041	60310041	+	Missense_Mutation	SNP	C	C	T	rs556095593		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:60310041C>T	ENST00000527948.1	+	3	737	c.179C>T	c.(178-180)aCt>aTt	p.T60I	MS4A13_ENST00000437058.2_Missense_Mutation_p.T92I|MS4A13_ENST00000378185.2_Missense_Mutation_p.T111I|MS4A13_ENST00000378186.2_Missense_Mutation_p.T151I			Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 13	0						integral component of membrane (GO:0016021)		p.T151I(1)		endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						GCTGAGAGCACTCCTTAAAAA	0.358																																						uc001nps.2																			1	Substitution - Missense(1)		lung(1)		0						c.(451-453)ACT>ATT		membrane-spanning 4-domains, subfamily A, member							85.0	87.0	86.0					11																	60310041		2203	4300	6503	SO:0001583	missense	503497					integral to membrane		g.chr11:60310041C>T	AY324188	CCDS31571.1, CCDS41653.1, CCDS60801.1	11q12.2	2005-12-05	2005-12-05		ENSG00000204979	ENSG00000204979			16674	protein-coding gene	gene with protein product							Standard	NM_001012417		Approved		uc001nps.3	Q5J8X5	OTTHUMG00000167615	ENST00000527948.1:c.179C>T	11.37:g.60310041C>T	ENSP00000432713:p.Thr60Ile					MS4A13_uc009ync.2_Missense_Mutation_p.T111I|MS4A13_uc009ynd.2_Missense_Mutation_p.T92I	p.T151I	NM_001012417	NP_001012417	Q5J8X5	M4A13_HUMAN			7	775	+			151					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000527948.1	37	c.452C>T		.	.	.	.	.	.	.	.	.	.	C	14.54	2.566015	0.45694	.	.	ENSG00000204979	ENST00000378186;ENST00000378185;ENST00000437058;ENST00000527948	T;T;T;T	0.39229	2.18;1.84;1.42;1.09	4.37	-4.9	0.03094	.	1.888410	0.02512	N	0.091650	T	0.24353	0.0590	N	0.19112	0.55	0.09310	N	1	B;B;B	0.18461	0.017;0.017;0.028	B;B;B	0.12837	0.008;0.008;0.006	T	0.16482	-1.0401	10	0.72032	D	0.01	.	2.063	0.03596	0.2425:0.181:0.4075:0.1689	.	92;111;151	Q5J8X5-3;Q5J8X5-2;Q5J8X5	.;.;M4A13_HUMAN	I	151;111;92;60	ENSP00000367428:T151I;ENSP00000367427:T111I;ENSP00000415535:T92I;ENSP00000432713:T60I	ENSP00000367427:T111I	T	+	2	0	MS4A13	60066617	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.688000	0.01925	-0.958000	0.03622	-0.873000	0.02984	ACT		PASS	0.358	MS4A13-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000395411.1	NM_001012417		3	11	3	11	---	---	---	---
CCDC88B	283234	broad.mit.edu	37	11	64124516	64124516	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:64124516G>T	ENST00000356786.5	+	27	4425	c.4381G>T	c.(4381-4383)Gag>Tag	p.E1461*	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_Nonsense_Mutation_p.E124*|RPS6KA4_ENST00000334205.4_5'Flank|CCDC88B_ENST00000359902.2_Silent_p.L565L|RPS6KA4_ENST00000528057.1_5'Flank|RPS6KA4_ENST00000294261.4_5'Flank	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1461						membrane (GO:0016020)		p.E1461*(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCTAGGCCCTGAGGTACAGGA	0.637																																						uc001nzy.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(4381-4383)GAG>TAG		coiled-coil domain containing 88							134.0	103.0	113.0					11																	64124516		2201	4297	6498	SO:0001587	stop_gained	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64124516G>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.4381G>T	11.37:g.64124516G>T	ENSP00000349238:p.Glu1461*					CCDC88B_uc001oaa.2_Silent_p.L565L|CCDC88B_uc001oab.1_3'UTR|CCDC88B_uc001oac.2_Silent_p.L76L|RPS6KA4_uc001oad.2_5'Flank|RPS6KA4_uc001oae.2_5'Flank|RPS6KA4_uc010rnl.1_5'Flank|RPS6KA4_uc001oaf.2_5'Flank|RPS6KA4_uc009ypp.2_5'Flank	p.E1461*	NM_032251	NP_115627	A6NC98	CC88B_HUMAN			27	4425	+			1461					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Nonsense_Mutation	SNP	ENST00000356786.5	37	c.4381G>T	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	N	51	17.381066	0.99885	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000301897	.	.	.	3.89	-6.84	0.01687	.	.	.	.	.	.	.	.	.	.	.	0.36707	D	0.880421	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	1.9582	0.03381	0.2729:0.3769:0.2271:0.1231	.	.	.	.	X	1343;1461;124	.	ENSP00000301897:E124X	E	+	1	0	CCDC88B	63881092	0.002000	0.14202	0.009000	0.14445	0.178000	0.23041	0.010000	0.13242	-1.173000	0.02758	-0.719000	0.03609	GAG		PASS	0.637	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		6	122	6	122	---	---	---	---
ATG2A	23130	broad.mit.edu	37	11	64664289	64664289	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:64664289C>T	ENST00000377264.3	-	38	5315	c.5203G>A	c.(5203-5205)Gac>Aac	p.D1735N	ATG2A_ENST00000421419.2_Missense_Mutation_p.D1737N	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1735					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.D1735N(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TTGCGGATGTCCTGCAGCCAC	0.637											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001obx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(5203-5205)GAC>AAC		autophagy related 2A							53.0	52.0	52.0					11																	64664289		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64664289C>T		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.5203G>A	11.37:g.64664289C>T	ENSP00000366475:p.Asp1735Asn		OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1078	ATG2A_uc001obw.2_Missense_Mutation_p.D500N	p.D1735N	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			38	5318	-			1735					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.5203G>A	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.899563|4.899563	0.91962|0.91962	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377262;ENST00000377264|ENST00000418259	T;T|.	0.12672|.	2.66;2.67|.	4.05|4.05	4.05|4.05	0.47172|0.47172	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78400|0.78400	0.4277|0.4277	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.996;0.998|.	T|T	0.81826|0.81826	-0.0754|-0.0754	10|5	0.72032|.	D|.	0.01|.	.|.	14.0919|14.0919	0.64995|0.64995	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1735;1737|.	Q2TAZ0;Q2TAZ0-3|.	ATG2A_HUMAN;.|.	N|E	1737;128;1735|1538	ENSP00000410522:D1737N;ENSP00000366475:D1735N|.	ENSP00000366473:D128N|.	D|G	-|-	1|2	0|0	ATG2A|ATG2A	64420865|64420865	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.848000|0.848000	0.48234|0.48234	6.896000|6.896000	0.75665|0.75665	2.273000|2.273000	0.75805|0.75805	0.561000|0.561000	0.74099|0.74099	GAC|GGA		PASS	0.637	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		10	22	10	22	---	---	---	---
C11orf80	79703	broad.mit.edu	37	11	66555707	66555707	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:66555707G>A	ENST00000360962.4	+	5	607	c.600G>A	c.(598-600)atG>atA	p.M200I	C11orf80_ENST00000525449.2_Missense_Mutation_p.M45I|C11orf80_ENST00000540737.1_Missense_Mutation_p.M34I|C11orf80_ENST00000527634.1_Intron|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000346672.4_Missense_Mutation_p.M45I|C11orf80_ENST00000532565.2_5'UTR	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	200								p.M200I(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						CTCAGGATATGACAGGGGTAA	0.388																																						uc001ojf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(598-600)ATG>ATA		hypothetical protein LOC79703							96.0	92.0	93.0					11																	66555707		1882	4108	5990	SO:0001583	missense	79703							g.chr11:66555707G>A			11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.600G>A	11.37:g.66555707G>A	ENSP00000354227:p.Met200Ile					C11orf80_uc001ojg.2_5'UTR|C11orf80_uc001ojh.2_Intron|C11orf80_uc001oji.2_5'UTR|C11orf80_uc010rpk.1_Missense_Mutation_p.M34I	p.M200I	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN			5	607	+			45					Q9H677	Missense_Mutation	SNP	ENST00000360962.4	37	c.600G>A	CCDS53664.1	.	.	.	.	.	.	.	.	.	.	G	0.624	-0.819800	0.02776	.	.	ENSG00000173715	ENST00000525908;ENST00000360962;ENST00000346672;ENST00000528340;ENST00000540737;ENST00000525449	T;T	0.31510	1.52;1.49	4.86	-6.09	0.02145	.	1.304110	0.05100	N	0.487008	T	0.08802	0.0218	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.24368	-1.0162	10	0.05525	T	0.97	.	1.2302	0.01942	0.2372:0.1267:0.3643:0.2718	.	34	E9PKZ8	.	I	151;200;45;34;34;45	ENSP00000432039:M151I;ENSP00000354227:M200I	ENSP00000317408:M45I	M	+	3	0	C11orf80	66312283	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.674000	0.05233	-1.021000	0.03350	-0.136000	0.14681	ATG		PASS	0.388	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024650		10	55	10	55	---	---	---	---
PPFIA1	8500	broad.mit.edu	37	11	70171654	70171654	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:70171654G>T	ENST00000253925.7	+	5	795	c.580G>T	c.(580-582)Gag>Tag	p.E194*	CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_Nonsense_Mutation_p.E194*|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	194					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.E194*(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTTGTTAGAAGAGGAATTAGG	0.373																																						uc001opo.2																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|ovary(1)	3						c.(580-582)GAG>TAG		PTPRF interacting protein alpha 1 isoform b							118.0	115.0	116.0					11																	70171654		2200	4294	6494	SO:0001587	stop_gained	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70171654G>T	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.580G>T	11.37:g.70171654G>T	ENSP00000253925:p.Glu194*					PPFIA1_uc001opn.1_Nonsense_Mutation_p.E194*|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_5'Flank	p.E194*	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		5	778	+			194			Potential.		A6NLE3|Q13135|Q14567|Q8N4I2	Nonsense_Mutation	SNP	ENST00000253925.7	37	c.580G>T	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	39	7.319498	0.98210	.	.	ENSG00000131626	ENST00000253925;ENST00000389547	.	.	.	5.02	4.1	0.47936	.	0.134538	0.48286	U	0.000190	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.4055	0.74874	0.0:0.1398:0.8602:0.0	.	.	.	.	X	194	.	ENSP00000253925:E194X	E	+	1	0	PPFIA1	69849302	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.375000	0.97178	1.100000	0.41517	0.558000	0.71614	GAG		PASS	0.373	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		6	113	6	113	---	---	---	---
ATG16L2	89849	broad.mit.edu	37	11	72539821	72539821	+	Splice_Site	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:72539821G>T	ENST00000321297.5	+	16	1808	c.1670G>T	c.(1669-1671)aGc>aTc	p.S557I	ATG16L2_ENST00000534905.1_3'UTR	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	557					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S557I(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GCTGTGTTCAGGTATGTCCGT	0.587																																						uc001otd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1669-1671)AGC>ATC		ATG16 autophagy related 16-like 2							306.0	261.0	276.0					11																	72539821		2200	4293	6493	SO:0001630	splice_region_variant	89849				autophagy|protein transport	cytoplasm	protein binding	g.chr11:72539821G>T	AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.1670+1G>T	11.37:g.72539821G>T						ATG16L2_uc001ote.2_Missense_Mutation_p.S451I|ATG16L2_uc009ytj.1_3'UTR|ATG16L2_uc001otf.2_Missense_Mutation_p.S312I|ATG16L2_uc001otg.2_Missense_Mutation_p.S291I|ATG16L2_uc009ytk.2_Missense_Mutation_p.S312I	p.S557I	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		16	1710	+			557			WD 6.		A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	ENST00000321297.5	37	c.1670G>T	CCDS31634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.4|25.4	4.630590|4.630590	0.87660|0.87660	.|.	.|.	ENSG00000168010|ENSG00000168010	ENST00000540222|ENST00000321297;ENST00000538973;ENST00000541367	.|D;D;D	.|0.84370	.|-1.84;-1.55;-1.84	5.37|5.37	5.37|5.37	0.77165|0.77165	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.095715	.|0.64402	.|D	.|0.000003	D|D	0.95306|0.95306	0.8477|0.8477	H|H	0.97682|0.97682	4.055|4.055	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	D|D	0.96855|0.96855	0.9628|0.9628	5|10	.|0.87932	.|D	.|0	.|.	16.5932|16.5932	0.84781|0.84781	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|451;557	.|Q8NAA4-2;Q8NAA4	.|.;A16L2_HUMAN	H|I	334|557;388;388	.|ENSP00000326340:S557I;ENSP00000441989:S388I;ENSP00000437412:S388I	.|ENSP00000326340:S557I	Q|S	+|+	3|2	2|0	ATG16L2|ATG16L2	72217469|72217469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.749000|0.749000	0.42624|0.42624	7.914000|7.914000	0.87478|0.87478	2.529000|2.529000	0.85273|0.85273	0.561000|0.561000	0.74099|0.74099	CAG|AGC		PASS	0.587	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1	NM_033388	Missense_Mutation	9	196	9	196	---	---	---	---
SLCO2B1	11309	broad.mit.edu	37	11	74880411	74880411	+	Silent	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:74880411C>A	ENST00000289575.5	+	5	1037	c.642C>A	c.(640-642)atC>atA	p.I214I	SLCO2B1_ENST00000525650.1_Silent_p.I70I|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000532236.1_Silent_p.I98I|SLCO2B1_ENST00000428359.2_Silent_p.I192I|SLCO2B1_ENST00000341411.4_Intron	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	214					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.I214I(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	TCTCCTACATCGATGACTTTG	0.602																																						uc001owb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(640-642)ATC>ATA		solute carrier organic anion transporter family,	Ergoloid mesylate(DB01049)						91.0	88.0	89.0					11																	74880411		2200	4293	6493	SO:0001819	synonymous_variant	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74880411C>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.642C>A	11.37:g.74880411C>A						SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Silent_p.I70I|SLCO2B1_uc010rrs.1_Silent_p.I98I|SLCO2B1_uc001owc.2_Intron|SLCO2B1_uc001owd.2_Silent_p.I192I	p.I214I	NM_007256	NP_009187	O94956	SO2B1_HUMAN			5	1029	+			214			Helical; Name=4; (Potential).		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Silent	SNP	ENST00000289575.5	37	c.642C>A	CCDS8235.1																																																																																				PASS	0.602	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		4	59	4	59	---	---	---	---
AQP11	282679	broad.mit.edu	37	11	77301476	77301476	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:77301476C>T	ENST00000313578.3	+	1	797	c.439C>T	c.(439-441)Cac>Tac	p.H147Y	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	147					endosomal lumen acidification (GO:0048388)|protein homooligomerization (GO:0051260)|proximal tubule development (GO:0072014)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.H147Y(1)		kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GACCCAGTATCACGTCAGCGA	0.592																																						uc001oyj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)CAC>TAC		aquaporin 11							98.0	80.0	87.0					11																	77301476		2200	4292	6492	SO:0001583	missense	282679					cell surface|integral to membrane	transporter activity	g.chr11:77301476C>T	AB028147	CCDS8251.1	11q13.5	2008-02-05			ENSG00000178301	ENSG00000178301		"""Ion channels / Aquaporins"""	19940	protein-coding gene	gene with protein product		609914				16107722	Standard	NM_173039		Approved		uc001oyj.3	Q8NBQ7	OTTHUMG00000165194	ENST00000313578.3:c.439C>T	11.37:g.77301476C>T	ENSP00000318770:p.His147Tyr					AQP11_uc009yuu.2_Intron	p.H147Y	NM_173039	NP_766627	Q8NBQ7	AQP11_HUMAN	Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)		1	797	+	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		147						Missense_Mutation	SNP	ENST00000313578.3	37	c.439C>T	CCDS8251.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215919	0.79352	.	.	ENSG00000178301	ENST00000313578	D	0.84370	-1.84	5.54	5.54	0.83059	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.91392	0.7284	M	0.80982	2.52	0.54753	D	0.999989	D	0.89917	1.0	D	0.83275	0.996	D	0.89427	0.3714	10	0.25751	T	0.34	-18.8252	12.7803	0.57472	0.0:0.9252:0.0:0.0748	.	147	Q8NBQ7	AQP11_HUMAN	Y	147	ENSP00000318770:H147Y	ENSP00000318770:H147Y	H	+	1	0	AQP11	76979124	0.999000	0.42202	0.974000	0.42286	0.772000	0.43724	4.632000	0.61311	2.606000	0.88127	0.491000	0.48974	CAC		PASS	0.592	AQP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382582.1	NM_173039		19	51	19	51	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88780767	88780767	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:88780767C>A	ENST00000305447.4	-	1	423	c.274G>T	c.(274-276)Ggc>Tgc	p.G92C	GRM5_ENST00000393294.3_Missense_Mutation_p.G92C|GRM5_ENST00000393297.1_Missense_Mutation_p.G92C|GRM5_ENST00000305432.5_Missense_Mutation_p.G92C|GRM5_ENST00000418177.2_Missense_Mutation_p.G92C|GRM5_ENST00000455756.2_Missense_Mutation_p.G92C	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	92					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.G92C(2)|p.G92R(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ATCTCACAGCCCAGTGTGATG	0.522																																						uc001pcq.2																			3	Substitution - Missense(3)	p.G92R(1)	lung(2)|ovary(1)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(274-276)GGC>TGC		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						85.0	74.0	78.0					11																	88780767		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780767C>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.274G>T	11.37:g.88780767C>A	ENSP00000306138:p.Gly92Cys					GRM5_uc009yvm.2_Missense_Mutation_p.G92C|GRM5_uc009yvn.1_Missense_Mutation_p.G92C	p.G92C	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			1	474	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	92			Extracellular (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.274G>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245272	0.80024	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.56	5.56	0.83823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91341	0.7269	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92858	0.6303	9	.	.	.	.	19.5349	0.95247	0.0:1.0:0.0:0.0	.	92;92;92	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	C	92	ENSP00000402912:G92C;ENSP00000405690:G92C;ENSP00000305905:G92C;ENSP00000306138:G92C;ENSP00000376975:G92C;ENSP00000376972:G92C	.	G	-	1	0	GRM5	88420415	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.687000	0.84139	2.605000	0.88082	0.563000	0.77884	GGC		PASS	0.522	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		7	16	7	16	---	---	---	---
TRPC6	7225	broad.mit.edu	37	11	101362388	101362388	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:101362388C>A	ENST00000344327.3	-	3	1451	c.1027G>T	c.(1027-1029)Gag>Tag	p.E343*	TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Nonsense_Mutation_p.E343*|TRPC6_ENST00000360497.4_Nonsense_Mutation_p.E343*	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	343					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.E343*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGAATGGCCTCGACTTCTTCA	0.408																																					Colon(166;1315 1927 11094 12848 34731)	uc001pgk.3																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1027-1029)GAG>TAG		transient receptor potential cation channel,							122.0	118.0	119.0					11																	101362388		2203	4299	6502	SO:0001587	stop_gained	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101362388C>A	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1027G>T	11.37:g.101362388C>A	ENSP00000340913:p.Glu343*					TRPC6_uc009ywy.2_Intron|TRPC6_uc009ywz.1_Nonsense_Mutation_p.E343*	p.E343*	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	3	1452	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	343			Cytoplasmic (Potential).		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Nonsense_Mutation	SNP	ENST00000344327.3	37	c.1027G>T	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521263	0.64747	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000360497	.	.	.	6.14	6.14	0.99180	.	0.043007	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-11.1893	20.8597	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	343	.	ENSP00000340913:E343X	E	-	1	0	TRPC6	100867598	1.000000	0.71417	0.971000	0.41717	0.078000	0.17371	4.844000	0.62846	2.937000	0.99478	0.650000	0.86243	GAG		PASS	0.408	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		6	167	6	167	---	---	---	---
BIRC3	330	broad.mit.edu	37	11	102201750	102201750	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:102201750G>A	ENST00000263464.3	+	6	3852	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	BIRC3_ENST00000532808.1_Missense_Mutation_p.E368K	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	368					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E368K(1)|p.E368*(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TGAACCTGGAGAAGACCATTC	0.333			T	MALT1	MALT																																	uc001pgx.2				Dom	yes		11	11q22-q23	330	T	baculoviral IAP repeat-containing 3			L	MALT1		MALT		2	Substitution - Missense(1)|Substitution - Nonsense(1)		large_intestine(1)|lung(1)	ovary(3)|skin(1)	4						c.(1102-1104)GAA>AAA		baculoviral IAP repeat-containing protein 3							69.0	72.0	71.0					11																	102201750		2203	4299	6502	SO:0001583	missense	330				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102201750G>A	L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1102G>A	11.37:g.102201750G>A	ENSP00000263464:p.Glu368Lys						p.E368K	NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)	7	1324	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	368					Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	c.1102G>A	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152548	0.57259	.	.	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000527309	T;T;T	0.77098	2.01;2.01;-1.07	5.28	5.28	0.74379	.	0.042995	0.85682	D	0.000000	D	0.86628	0.5978	M	0.81802	2.56	0.58432	D	0.999999	D	0.60575	0.988	D	0.69824	0.966	D	0.85085	0.0948	10	0.33940	T	0.23	.	12.4164	0.55496	0.0763:0.0:0.9237:0.0	.	368	Q13489	BIRC3_HUMAN	K	368;368;172	ENSP00000263464:E368K;ENSP00000432907:E368K;ENSP00000431718:E172K	ENSP00000263464:E368K	E	+	1	0	BIRC3	101706960	1.000000	0.71417	0.970000	0.41538	0.204000	0.24138	7.315000	0.78998	2.741000	0.93983	0.561000	0.74099	GAA		PASS	0.333	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		7	45	7	45	---	---	---	---
BIRC3	330	broad.mit.edu	37	11	102201903	102201903	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:102201903G>C	ENST00000263464.3	+	6	4005	c.1255G>C	c.(1255-1257)Gac>Cac	p.D419H	BIRC3_ENST00000532808.1_Missense_Mutation_p.D419H	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	419					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D419H(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TCTTGTGTTAGACTTACTCAA	0.363			T	MALT1	MALT																																	uc001pgx.2				Dom	yes		11	11q22-q23	330	T	baculoviral IAP repeat-containing 3			L	MALT1		MALT		1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1255-1257)GAC>CAC		baculoviral IAP repeat-containing protein 3							97.0	103.0	101.0					11																	102201903		2203	4299	6502	SO:0001583	missense	330				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102201903G>C	L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1255G>C	11.37:g.102201903G>C	ENSP00000263464:p.Asp419His						p.D419H	NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)	7	1477	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	419					Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	c.1255G>C	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296983	0.60086	.	.	ENSG00000023445	ENST00000263464;ENST00000532808	T;T	0.25579	1.79;1.79	5.32	5.32	0.75619	.	0.215588	0.56097	D	0.000038	T	0.45975	0.1369	M	0.79258	2.445	0.80722	D	1	P	0.49783	0.928	P	0.51453	0.67	T	0.47497	-0.9113	10	0.62326	D	0.03	.	19.185	0.93639	0.0:0.0:1.0:0.0	.	419	Q13489	BIRC3_HUMAN	H	419	ENSP00000263464:D419H;ENSP00000432907:D419H	ENSP00000263464:D419H	D	+	1	0	BIRC3	101707113	1.000000	0.71417	0.013000	0.15412	0.140000	0.21249	9.511000	0.98006	2.762000	0.94881	0.591000	0.81541	GAC		PASS	0.363	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		11	51	11	51	---	---	---	---
TMPRSS5	80975	broad.mit.edu	37	11	113568023	113568023	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:113568023C>A	ENST00000299882.5	-	5	594	c.446G>T	c.(445-447)tGg>tTg	p.W149L	TMPRSS5_ENST00000545579.1_Missense_Mutation_p.W140L|TMPRSS5_ENST00000540540.1_5'UTR|TMPRSS5_ENST00000536856.1_5'UTR|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.W105L|TMPRSS5_ENST00000544634.1_Missense_Mutation_p.W149L|TMPRSS5_ENST00000544476.1_Missense_Mutation_p.W105L	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	149	SRCR.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.W149L(2)		endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		CCCAAGGCTCCAGCAGATCTG	0.617																																						uc001poc.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(445-447)TGG>TTG		transmembrane protease, serine 5							56.0	60.0	59.0					11																	113568023		1989	4186	6175	SO:0001583	missense	80975				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:113568023C>A	AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"""Serine peptidases / Transmembrane"""	14908	protein-coding gene	gene with protein product	"""spinesin"""	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.446G>T	11.37:g.113568023C>A	ENSP00000299882:p.Trp149Leu					TMPRSS5_uc009yys.2_Missense_Mutation_p.W140L|TMPRSS5_uc009yyt.2_Missense_Mutation_p.W105L|TMPRSS5_uc001pod.3_5'UTR|TMPRSS5_uc010rww.1_Missense_Mutation_p.W139L|TMPRSS5_uc009yyu.2_5'UTR|TMPRSS5_uc010rwx.1_Missense_Mutation_p.W105L	p.W149L	NM_030770	NP_110397	Q9H3S3	TMPS5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)	5	568	-		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	149			SRCR.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000299882.5	37	c.446G>T	CCDS44735.1	.	.	.	.	.	.	.	.	.	.	C	7.237	0.600461	0.13939	.	.	ENSG00000166682	ENST00000299882;ENST00000545579;ENST00000538955;ENST00000544634;ENST00000544476	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	5.31	-0.989	0.10242	Speract/scavenger receptor (1);Speract/scavenger receptor-related (1);	0.548767	0.16670	N	0.204415	T	0.32496	0.0831	N	0.08118	0	0.09310	N	1	B;B;B	0.26845	0.075;0.161;0.116	B;B;B	0.25759	0.023;0.063;0.021	T	0.20806	-1.0264	10	0.52906	T	0.07	.	9.3134	0.37919	0.0:0.5386:0.0:0.4614	.	149;140;149	F5GYA3;F5GX83;Q9H3S3	.;.;TMPS5_HUMAN	L	149;140;105;149;105	ENSP00000299882:W149L;ENSP00000441104:W140L;ENSP00000445528:W105L;ENSP00000440783:W149L;ENSP00000445930:W105L	ENSP00000299882:W149L	W	-	2	0	TMPRSS5	113073233	0.000000	0.05858	0.454000	0.27019	0.208000	0.24298	-1.044000	0.03532	-0.196000	0.10366	0.563000	0.77884	TGG		PASS	0.617	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398652.1	NM_030770		6	76	6	76	---	---	---	---
TMPRSS5	80975	broad.mit.edu	37	11	113570845	113570845	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:113570845C>T	ENST00000299882.5	-	2	197	c.49G>A	c.(49-51)Gag>Aag	p.E17K	TMPRSS5_ENST00000545579.1_5'UTR|TMPRSS5_ENST00000540540.1_Intron|TMPRSS5_ENST00000536856.1_Intron|TMPRSS5_ENST00000538955.1_Intron|TMPRSS5_ENST00000544634.1_Missense_Mutation_p.E17K|TMPRSS5_ENST00000544476.1_Intron	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	17					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.E17K(2)		endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		GGGCCCTCCTCTGCATACTGG	0.602																																						uc001poc.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(49-51)GAG>AAG		transmembrane protease, serine 5							32.0	34.0	33.0					11																	113570845		1908	4115	6023	SO:0001583	missense	80975				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:113570845C>T	AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"""Serine peptidases / Transmembrane"""	14908	protein-coding gene	gene with protein product	"""spinesin"""	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.49G>A	11.37:g.113570845C>T	ENSP00000299882:p.Glu17Lys					TMPRSS5_uc009yys.2_5'UTR|TMPRSS5_uc009yyt.2_Intron|TMPRSS5_uc001pod.3_Intron|TMPRSS5_uc010rww.1_Missense_Mutation_p.E7K|TMPRSS5_uc009yyu.2_Intron|TMPRSS5_uc010rwx.1_Intron	p.E17K	NM_030770	NP_110397	Q9H3S3	TMPS5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)	2	171	-		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	17			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000299882.5	37	c.49G>A	CCDS44735.1	.	.	.	.	.	.	.	.	.	.	c	16.25	3.070981	0.55646	.	.	ENSG00000166682	ENST00000299882;ENST00000544634	D;D	0.91011	-2.56;-2.77	3.64	3.64	0.41730	.	0.000000	0.53938	D	0.000046	D	0.86855	0.6033	L	0.32530	0.975	0.50632	D	0.999881	D;P	0.54207	0.965;0.941	P;P	0.50270	0.636;0.534	T	0.82760	-0.0298	10	0.16896	T	0.51	.	11.1566	0.48491	0.0:1.0:0.0:0.0	.	17;17	F5GYA3;Q9H3S3	.;TMPS5_HUMAN	K	17	ENSP00000299882:E17K;ENSP00000440783:E17K	ENSP00000299882:E17K	E	-	1	0	TMPRSS5	113076055	0.998000	0.40836	0.286000	0.24833	0.558000	0.35554	3.238000	0.51352	2.332000	0.79248	0.298000	0.19748	GAG		PASS	0.602	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398652.1	NM_030770		7	11	7	11	---	---	---	---
SIDT2	51092	broad.mit.edu	37	11	117063911	117063911	+	Silent	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:117063911C>A	ENST00000324225.4	+	23	2679	c.2148C>A	c.(2146-2148)tcC>tcA	p.S716S	SIDT2_ENST00000532062.1_Silent_p.S8S|SIDT2_ENST00000431081.2_Silent_p.S713S	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	716					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)	p.S716S(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		ATTTCGCTTCCTACTTGTTGG	0.552																																						uc001pqh.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(2146-2148)TCC>TCA		SID1 transmembrane family, member 2 precursor							431.0	407.0	415.0					11																	117063911		2201	4296	6497	SO:0001819	synonymous_variant	51092					integral to membrane|lysosomal membrane		g.chr11:117063911C>A	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.2148C>A	11.37:g.117063911C>A						SIDT2_uc010rxe.1_Silent_p.S716S|SIDT2_uc001pqg.2_Silent_p.S737S|SIDT2_uc001pqi.1_Silent_p.S713S|SIDT2_uc001pqj.1_Silent_p.S28S	p.S716S	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	23	2189	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	716			Helical; (Potential).		Q8NBY7|Q9Y357	Silent	SNP	ENST00000324225.4	37	c.2148C>A	CCDS31682.1																																																																																				PASS	0.552	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		13	621	13	621	---	---	---	---
RNF214	257160	broad.mit.edu	37	11	117153509	117153509	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:117153509C>G	ENST00000531452.1	+	13	1939	c.1893C>G	c.(1891-1893)atC>atG	p.I631M	RNF214_ENST00000530849.1_Intron|RNF214_ENST00000300650.4_Missense_Mutation_p.I631M|RNF214_ENST00000524917.1_3'UTR|RNF214_ENST00000531287.1_Missense_Mutation_p.I476M	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	631							zinc ion binding (GO:0008270)	p.I631M(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TGGCCCAAATCAGTACCCCAA	0.478																																						uc001pqt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1891-1893)ATC>ATG		ring finger protein 214							132.0	125.0	127.0					11																	117153509		1949	4146	6095	SO:0001583	missense	257160						zinc ion binding	g.chr11:117153509C>G	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1893C>G	11.37:g.117153509C>G	ENSP00000431643:p.Ile631Met					RNF214_uc001pqu.2_Missense_Mutation_p.I631M|RNF214_uc010rxf.1_Missense_Mutation_p.I476M	p.I631M	NM_207343	NP_997226	Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	13	1938	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	631					B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	c.1893C>G	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918670	0.52546	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000300650;ENST00000534709	T;T;T	0.47869	0.91;0.83;0.83	5.63	4.64	0.57946	.	0.219900	0.37178	N	0.002207	T	0.57844	0.2081	L	0.40543	1.245	0.32911	D	0.514464	D;D	0.69078	0.988;0.997	D;D	0.78314	0.965;0.991	T	0.61347	-0.7081	10	0.30078	T	0.28	-4.0889	14.7565	0.69569	0.1538:0.8462:0.0:0.0	.	476;631	B4DTD1;Q8ND24	.;RN214_HUMAN	M	476;631;631;183	ENSP00000435361:I476M;ENSP00000431643:I631M;ENSP00000300650:I631M	ENSP00000300650:I631M	I	+	3	3	RNF214	116658719	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.480000	0.35464	2.654000	0.90174	0.561000	0.74099	ATC		PASS	0.478	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		11	63	11	63	---	---	---	---
VSIG2	23584	broad.mit.edu	37	11	124617436	124617436	+	Missense_Mutation	SNP	C	C	A	rs554471393		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:124617436C>A	ENST00000326621.5	-	7	1079	c.979G>T	c.(979-981)Gtg>Ttg	p.V327L	RP11-677M14.2_ENST00000531241.1_RNA	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	327						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.V327L(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		AGAAGTCACACGACCATAGGG	0.527																																						uc001qas.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(979-981)GTG>TTG		V-set and immunoglobulin domain containing 2							89.0	80.0	83.0					11																	124617436		2201	4299	6500	SO:0001583	missense	23584					integral to plasma membrane|membrane fraction		g.chr11:124617436C>A	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.979G>T	11.37:g.124617436C>A	ENSP00000318684:p.Val327Leu						p.V327L	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	7	1055	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	327			Cytoplasmic (Potential).		O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	c.979G>T	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671237	0.47781	.	.	ENSG00000019102	ENST00000326621	T	0.75154	-0.91	5.35	4.44	0.53790	.	0.358364	0.24128	N	0.041299	T	0.70369	0.3216	M	0.68317	2.08	0.53688	D	0.999972	P	0.41710	0.76	B	0.38755	0.281	T	0.73874	-0.3845	10	0.87932	D	0	.	9.6205	0.39719	0.0:0.9071:0.0:0.0929	.	327	Q96IQ7	VSIG2_HUMAN	L	327	ENSP00000318684:V327L	ENSP00000318684:V327L	V	-	1	0	VSIG2	124122646	0.075000	0.21258	0.324000	0.25361	0.023000	0.10783	0.784000	0.26816	1.491000	0.48482	0.650000	0.86243	GTG		PASS	0.527	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		27	40	27	40	---	---	---	---
ADAMTS8	11095	broad.mit.edu	37	11	130286835	130286835	+	Splice_Site	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr11:130286835C>G	ENST00000257359.6	-	3	1802	c.1096G>C	c.(1096-1098)Ggg>Cgg	p.G366R		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	366	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G395R(1)|p.G366R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CAAATCTTACCTAGTTCATGG	0.562																																						uc001qgg.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1096-1098)GGG>CGG		ADAM metallopeptidase with thrombospondin type 1							133.0	139.0	137.0					11																	130286835		2013	4173	6186	SO:0001630	splice_region_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130286835C>G	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1096+1G>C	11.37:g.130286835C>G							p.G366R	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	3	1454	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	366			Peptidase M12B.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1096G>C	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948775	0.92660	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	D	0.98958	-5.27	4.66	4.66	0.58398	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98254	1.0495	9	.	.	.	.	17.91	0.88931	0.0:1.0:0.0:0.0	.	366	Q9UP79	ATS8_HUMAN	R	366;395	ENSP00000257359:G366R	.	G	-	1	0	ADAMTS8	129792045	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	7.810000	0.86072	2.281000	0.76405	0.655000	0.94253	GGG		PASS	0.562	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037	Missense_Mutation	49	47	49	47	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	1005676	1005676	+	Missense_Mutation	SNP	A	A	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:1005676A>G	ENST00000315939.6	+	24	6666	c.6023A>G	c.(6022-6024)aAt>aGt	p.N2008S	WNK1_ENST00000340908.4_Missense_Mutation_p.N1601S|WNK1_ENST00000537687.1_Missense_Mutation_p.N2268S|WNK1_ENST00000530271.2_Missense_Mutation_p.N2506S|WNK1_ENST00000535572.1_Missense_Mutation_p.N1760S	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2008					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.N2008S(1)|p.N2268S(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCACATCTAAATGGGCCGTCT	0.502																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			2	Substitution - Missense(2)		lung(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(6022-6024)AAT>AGT		WNK lysine deficient protein kinase 1							90.0	92.0	91.0					12																	1005676		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:1005676A>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.6023A>G	12.37:g.1005676A>G	ENSP00000313059:p.Asn2008Ser					WNK1_uc001qip.3_Missense_Mutation_p.N1760S|WNK1_uc001qir.3_Missense_Mutation_p.N1181S	p.N2008S	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		24	6530	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		2008					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.6023A>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.054741	0.55325	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.70516	-0.49;-0.43;-0.45;-0.48;0.74	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.79269	0.4417	M	0.61703	1.905	0.42222	D	0.991856	D;D;D	0.65815	0.995;0.986;0.976	P;P;P	0.61800	0.894;0.716;0.523	T	0.75725	-0.3217	10	0.17832	T	0.49	-19.0548	16.1864	0.81955	1.0:0.0:0.0:0.0	.	1761;1760;2008	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	S	1760;2008;2268;1181;2506;1601	ENSP00000441972:N1760S;ENSP00000313059:N2008S;ENSP00000444465:N2268S;ENSP00000433548:N2506S;ENSP00000341292:N1601S	ENSP00000252477:N1181S	N	+	2	0	WNK1	875937	0.998000	0.40836	0.992000	0.48379	0.993000	0.82548	3.821000	0.55700	2.225000	0.72522	0.533000	0.62120	AAT		PASS	0.502	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		28	61	28	61	---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	8975787	8975787	+	Silent	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:8975787G>T	ENST00000299698.7	+	2	252	c.72G>T	c.(70-72)ctG>ctT	p.L24L	A2ML1-AS2_ENST00000394240.3_RNA|A2ML1-AS1_ENST00000537288.1_RNA	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.L24L(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GAAACTACCTGGTGACATTAC	0.458																																						uc001quz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(70-72)CTG>CTT		alpha-2-macroglobulin-like 1 precursor							83.0	84.0	84.0					12																	8975787		1865	4108	5973	SO:0001819	synonymous_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8975787G>T	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.72G>T	12.37:g.8975787G>T							p.L24L	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			2	170	+			Error:Variant_position_missing_in_B3KVV6_after_alignment						Silent	SNP	ENST00000299698.7	37	c.72G>T	CCDS8596.2																																																																																				PASS	0.458	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		5	58	5	58	---	---	---	---
TAS2R42	353164	broad.mit.edu	37	12	11339450	11339450	+	Missense_Mutation	SNP	A	A	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:11339450A>T	ENST00000334266.1	-	1	93	c.94T>A	c.(94-96)Tgc>Agc	p.C32S		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	32					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C32S(1)		breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			CCTTCAGAGCAGTTTACCAGT	0.448																																					Melanoma(15;352 722 10077 19546 48810)	uc001qzr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(94-96)TGC>AGC		taste receptor, type 2, member 42							123.0	116.0	119.0					12																	11339450		2203	4300	6503	SO:0001583	missense	353164				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11339450A>T	AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.94T>A	12.37:g.11339450A>T	ENSP00000334050:p.Cys32Ser					PRB4_uc001qzf.1_Intron	p.C32S	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0455)		1	94	-			32			Cytoplasmic (Potential).		A2RRP4|Q645X0	Missense_Mutation	SNP	ENST00000334266.1	37	c.94T>A	CCDS31747.1	.	.	.	.	.	.	.	.	.	.	.	12.90	2.077285	0.36662	.	.	ENSG00000186136	ENST00000334266	T	0.00816	5.66	3.22	0.684	0.18003	GPCR, rhodopsin-like superfamily (1);	0.630697	0.14176	U	0.336328	T	0.01627	0.0052	M	0.62266	1.93	0.09310	N	1	P	0.42456	0.78	P	0.49252	0.604	T	0.43343	-0.9397	10	0.21540	T	0.41	.	2.4306	0.04470	0.6235:0.0:0.1385:0.238	.	32	Q7RTR8	T2R42_HUMAN	S	32	ENSP00000334050:C32S	ENSP00000334050:C32S	C	-	1	0	TAS2R42	11230717	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.421000	0.21280	0.027000	0.15297	0.533000	0.62120	TGC		PASS	0.448	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400243.1	NM_181429		14	32	14	32	---	---	---	---
PRB4	5545	broad.mit.edu	37	12	11461631	11461631	+	Missense_Mutation	SNP	G	G	C	rs373688305		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:11461631G>C	ENST00000535904.1	-	3	319	c.286C>G	c.(286-288)Cca>Gca	p.P96A	PRB4_ENST00000445719.2_Missense_Mutation_p.P96A|PRB4_ENST00000279575.1_Missense_Mutation_p.P96A			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	117	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			P -> PP (in Ref. 5; AA sequence). {ECO:0000305}.		extracellular region (GO:0005576)		p.P96A(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGCTTTCCTGGATGAGGTGGG	0.597										HNSCC(22;0.051)																												uc001qzf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(286-288)CCA>GCA		proline-rich protein BstNI subfamily 4							304.0	322.0	316.0					12																	11461631		2203	4300	6503	SO:0001583	missense	5545					extracellular region		g.chr12:11461631G>C		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.286C>G	12.37:g.11461631G>C	ENSP00000442834:p.Pro96Ala	HNSCC(22;0.051)				PRB4_uc001qzt.2_Missense_Mutation_p.P96A	p.P96A	NM_002723	NP_002714	P10163	PRB4_HUMAN			3	320	-			117		Missing (in allele M and allele S).	4.|9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	c.286C>G	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	0.059	-1.227753	0.01518	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.04654	3.58;3.58;3.89	0.769	-0.407	0.12385	.	.	.	.	.	T	0.05960	0.0155	M	0.76574	2.34	0.09310	N	1	P	0.52061	0.95	P	0.45577	0.486	T	0.21143	-1.0254	9	0.02654	T	1	.	3.6731	0.08281	0.0:0.0:0.5674:0.4326	.	96	E9PAL0	.	A	96	ENSP00000279575:P96A;ENSP00000442834:P96A;ENSP00000412740:P96A	ENSP00000279575:P96A	P	-	1	0	PRB4	11352898	0.004000	0.15560	0.007000	0.13788	0.026000	0.11368	0.576000	0.23744	-0.164000	0.10927	0.196000	0.17591	CCA		PASS	0.597	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		16	308	16	308	---	---	---	---
CMAS	55907	broad.mit.edu	37	12	22208428	22208428	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:22208428G>A	ENST00000229329.2	+	3	573	c.443G>A	c.(442-444)tGt>tAt	p.C148Y		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	148					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)	p.C148Y(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						ACTTCTCCATGTTTACATCCT	0.343																																						uc001rfm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(442-444)TGT>TAT		cytidine monophospho-N-acetylneuraminic acid							94.0	85.0	88.0					12																	22208428		2203	4300	6503	SO:0001583	missense	55907				lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity	g.chr12:22208428G>A	AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"""CMP-Neu5Ac synthetase"""	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.443G>A	12.37:g.22208428G>A	ENSP00000229329:p.Cys148Tyr					CMAS_uc001rfn.2_RNA	p.C148Y	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN			3	522	+			148					Q96AX5|Q9NQZ0	Missense_Mutation	SNP	ENST00000229329.2	37	c.443G>A	CCDS8696.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104806	0.77096	.	.	ENSG00000111726	ENST00000229329	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.84999	0.5597	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.86798	0.1990	9	0.72032	D	0.01	-1.1655	19.7284	0.96174	0.0:0.0:1.0:0.0	.	148	Q8NFW8	NEUA_HUMAN	Y	148	.	ENSP00000229329:C148Y	C	+	2	0	CMAS	22099695	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.567000	0.90737	2.668000	0.90789	0.591000	0.81541	TGT		PASS	0.343	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686		8	18	8	18	---	---	---	---
PRICKLE1	144165	broad.mit.edu	37	12	42853690	42853690	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:42853690G>T	ENST00000455697.1	-	8	2702	c.2417C>A	c.(2416-2418)cCc>cAc	p.P806H	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.P806H|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.P806H|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.P806H|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.P806H	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	806					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.P806H(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CTGAGGGGTGGGAAGTGCAGA	0.433																																						uc010skv.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2416-2418)CCC>CAC		prickle homolog 1							159.0	160.0	159.0					12																	42853690		2203	4300	6503	SO:0001583	missense	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42853690G>T	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.2417C>A	12.37:g.42853690G>T	ENSP00000401060:p.Pro806His					PRICKLE1_uc001rnl.2_Missense_Mutation_p.P806H|PRICKLE1_uc010skw.1_Missense_Mutation_p.P806H|PRICKLE1_uc001rnm.2_Missense_Mutation_p.P806H|PRICKLE1_uc001rnk.1_5'Flank	p.P806H	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	8	2704	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		806					Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.2417C>A	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298144	0.23650	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14	5.57	4.67	0.58626	.	0.219829	0.47852	D	0.000211	T	0.45316	0.1336	L	0.27053	0.805	0.09310	N	1	P	0.38642	0.641	B	0.36959	0.237	T	0.45585	-0.9251	10	0.40728	T	0.16	-18.8119	15.3634	0.74499	0.0704:0.0:0.9296:0.0	.	806	Q96MT3	PRIC1_HUMAN	H	806	ENSP00000401060:P806H;ENSP00000398947:P806H;ENSP00000448359:P806H;ENSP00000345064:P806H;ENSP00000449819:P806H	ENSP00000345064:P806H	P	-	2	0	PRICKLE1	41139957	0.989000	0.36119	0.114000	0.21550	0.955000	0.61496	5.805000	0.69143	2.775000	0.95449	0.655000	0.94253	CCC		PASS	0.433	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			25	61	25	61	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43833468	43833468	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:43833468C>A	ENST00000389420.3	-	18	2549	c.2550G>T	c.(2548-2550)tgG>tgT	p.W850C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.W850C|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.W4C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	850	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.W850C(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CATAGGGGTCCCATGTGAACA	0.423																																						uc010skx.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(2548-2550)TGG>TGT		a disintegrin-like and metalloprotease with							115.0	97.0	103.0					12																	43833468		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43833468C>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2550G>T	12.37:g.43833468C>A	ENSP00000374071:p.Trp850Cys					ADAMTS20_uc001rno.1_Missense_Mutation_p.W4C|ADAMTS20_uc001rnp.1_Missense_Mutation_p.W4C	p.W850C	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	18	2550	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	850			TSP type-1 2.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.2550G>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447116	0.63178	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.25	5.25	0.73442	.	0.000000	0.49916	D	0.000125	D	0.83312	0.5227	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;0.968	D;P	0.85130	0.997;0.837	D	0.85688	0.1305	10	0.72032	D	0.01	.	19.7339	0.96193	0.0:1.0:0.0:0.0	.	850;4	P59510;E9PBD5	ATS20_HUMAN;.	C	850;16;4;850;850	ENSP00000374071:W850C;ENSP00000447427:W16C;ENSP00000378911:W4C;ENSP00000448341:W850C	ENSP00000374068:W850C	W	-	3	0	ADAMTS20	42119735	1.000000	0.71417	0.983000	0.44433	0.523000	0.34469	7.445000	0.80570	2.836000	0.97738	0.655000	0.94253	TGG		PASS	0.423	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		5	48	5	48	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49441761	49441761	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:49441761C>A	ENST00000301067.7	-	14	4222	c.4223G>T	c.(4222-4224)tGt>tTt	p.C1408F		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1408	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.C1408F(1)|p.C1135F(1)									GCTGTTGACACAGTAAGGGTG	0.552																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(4222-4224)TGT>TTT		myeloid/lymphoid or mixed-lineage leukemia 2							62.0	65.0	64.0					12																	49441761		1996	4174	6170	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49441761C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4223G>T	12.37:g.49441761C>A	ENSP00000301067:p.Cys1408Phe	HNSCC(34;0.089)					p.C1408F	NM_003482	NP_003473	O14686	MLL2_HUMAN			14	4223	-			1408			Cys-rich.|PHD-type 3.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.4223G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869074	0.51588	.	.	ENSG00000167548	ENST00000301067	D	0.99930	-8.15	5.96	5.96	0.96718	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.41605	D	0.000842	D	0.99915	0.9960	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.96106	0.9073	10	0.87932	D	0	.	19.1935	0.93677	0.0:1.0:0.0:0.0	.	1408	O14686	MLL2_HUMAN	F	1408	ENSP00000301067:C1408F	ENSP00000301067:C1408F	C	-	2	0	MLL2	47728028	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	TGT		PASS	0.552	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			13	24	13	24	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49443899	49443899	+	Nonsense_Mutation	SNP	C	C	A	rs199933192		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:49443899C>A	ENST00000301067.7	-	11	3471	c.3472G>T	c.(3472-3474)Gag>Tag	p.E1158*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1158	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E885*(2)|p.E1158*(1)									GCCAGCTCCTCGGGGTCCAGG	0.602																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		3	Substitution - Nonsense(3)		lung(2)|upper_aerodigestive_tract(1)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(3472-3474)GAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							45.0	49.0	47.0					12																	49443899		1917	4119	6036	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49443899C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3472G>T	12.37:g.49443899C>A	ENSP00000301067:p.Glu1158*	HNSCC(34;0.089)					p.E1158*	NM_003482	NP_003473	O14686	MLL2_HUMAN			11	3472	-			1158			Pro-rich.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.3472G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	41	9.130661	0.99075	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.4	5.4	0.78164	.	0.000000	0.37348	N	0.002137	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9764	0.89129	0.0:1.0:0.0:0.0	.	.	.	.	X	1158	.	ENSP00000301067:E1158X	E	-	1	0	MLL2	47730166	0.990000	0.36364	0.994000	0.49952	0.966000	0.64601	2.946000	0.49050	2.527000	0.85204	0.563000	0.77884	GAG		PASS	0.602	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			4	60	4	60	---	---	---	---
SCN8A	6334	broad.mit.edu	37	12	52162746	52162746	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:52162746C>A	ENST00000354534.6	+	17	3177	c.2999C>A	c.(2998-3000)tCa>tAa	p.S1000*	SCN8A_ENST00000545061.1_Nonsense_Mutation_p.S1000*	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1000					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.S1000*(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CTCCAGATCTCAGTGATCCGT	0.537																																						uc001ryw.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(7)	7						c.(2998-3000)TCA>TAA		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						94.0	94.0	94.0					12																	52162746		2043	4204	6247	SO:0001587	stop_gained	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52162746C>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2999C>A	12.37:g.52162746C>A	ENSP00000346534:p.Ser1000*					SCN8A_uc010snl.1_Nonsense_Mutation_p.S865*	p.S1000*	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	17	3177	+			1000			II.		B9VWG8|O95788|Q9NYX2|Q9UPB2	Nonsense_Mutation	SNP	ENST00000354534.6	37	c.2999C>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	C	42	9.726465	0.99248	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	.	.	.	4.66	4.66	0.58398	.	0.209202	0.41001	D	0.000969	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.8687	0.92303	0.0:1.0:0.0:0.0	.	.	.	.	X	1000;1000;1000;913	.	ENSP00000346534:S1000X	S	+	2	0	SCN8A	50449013	0.894000	0.30519	0.972000	0.41901	0.994000	0.84299	7.609000	0.82925	2.873000	0.98535	0.563000	0.77884	TCA		PASS	0.537	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		6	61	6	61	---	---	---	---
COPZ1	22818	broad.mit.edu	37	12	54731020	54731020	+	Intron	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:54731020G>T	ENST00000262061.2	+	2	55				COPZ1_ENST00000416254.2_Intron|COPZ1_ENST00000552218.1_Intron|COPZ1_ENST00000551779.1_Intron|COPZ1_ENST00000548281.1_Intron|COPZ1_ENST00000549116.1_Intron|COPZ1_ENST00000455864.2_Intron|COPZ1_ENST00000552362.1_Intron|COPZ1_ENST00000553231.1_Intron|RP11-968A15.8_ENST00000553061.1_RNA|COPZ1_ENST00000549043.1_Intron|MIR148B_ENST00000362252.1_RNA|COPZ1_ENST00000548753.1_Intron	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1						COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)				kidney(1)|lung(4)	5						TAGCATTTGAGGTGAAGTTCT	0.398																																						hsa-mir-148b|MI0000811																			0					0															179.0	162.0	168.0					12																	54731020		1568	3582	5150	SO:0001627	intron_variant	442892							g.chr12:54731020G>T	AF151878	CCDS8877.1, CCDS61137.1, CCDS61138.1, CCDS61139.1	12q13.2-q13.3	2008-02-05		2003-07-23					2243	protein-coding gene	gene with protein product		615472	"""coatomer protein complex, subunit zeta"""	COPZ			Standard	NM_001271734		Approved	CGI-120	uc009znm.2	P61923		ENST00000262061.2:c.19-3311G>T	12.37:g.54731020G>T						COPZ1_uc001sfs.1_Intron|COPZ1_uc001sft.2_Intron|COPZ1_uc009znm.1_Intron|COPZ1_uc010sot.1_Intron|uc010sou.1_RNA										+								B4DDX8|B4DHZ0|F8VS17|F8VWL5|Q549N6|Q9Y3C3	RNA	SNP	ENST00000262061.2	37	c.21G>T	CCDS8877.1																																																																																				PASS	0.398	COPZ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405753.1	NM_016057		10	142	10	142	---	---	---	---
RDH5	5959	broad.mit.edu	37	12	56115129	56115129	+	Missense_Mutation	SNP	G	G	C	rs200548164		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:56115129G>C	ENST00000257895.5	+	2	313	c.161G>C	c.(160-162)cGa>cCa	p.R54P	RDH5_ENST00000547072.1_5'UTR|RDH5_ENST00000548082.1_Missense_Mutation_p.R54P|RP11-644F5.10_ENST00000550412.1_Intron|RP11-644F5.10_ENST00000549424.1_Intron|RDH5_ENST00000553160.1_Intron	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	54					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	retinol dehydrogenase activity (GO:0004745)	p.R54P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					Vitamin A(DB00162)	AGAGGCTTCCGAGTCCTGGCC	0.662											OREG0021907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001shk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(160-162)CGA>CCA		retinol dehydrogenase 5 (11-cis and 9-cis)	NADH(DB00157)|Vitamin A(DB00162)						33.0	37.0	36.0					12																	56115129		2202	4299	6501	SO:0001583	missense	5959				response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity	g.chr12:56115129G>C	U89717	CCDS31829.1	12q13-q14	2013-06-03	2006-05-09			ENSG00000135437	1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	9940	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 5"""	601617	"""retinol dehydrogenase 5 (11-cis and 9-cis)"""	RDH1		9115228, 8884265, 19027726	Standard	NM_002905		Approved	HSD17B9, SDR9C5	uc001shl.3	Q92781	OTTHUMG00000170126	ENST00000257895.5:c.161G>C	12.37:g.56115129G>C	ENSP00000257895:p.Arg54Pro		OREG0021907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	BLOC1S1_uc001shj.3_Intron|RDH5_uc010spt.1_Missense_Mutation_p.R54P|RDH5_uc010spu.1_5'UTR|RDH5_uc001shl.2_Missense_Mutation_p.R54P	p.R54P	NM_002905	NP_002896	Q92781	RDH1_HUMAN			2	344	+			54			NADP (By similarity).		O00179|Q8TAI2	Missense_Mutation	SNP	ENST00000257895.5	37	c.161G>C	CCDS31829.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511420	0.27036	.	.	ENSG00000135437	ENST00000257895;ENST00000548082	D;D	0.89552	-2.53;-2.53	5.11	2.25	0.28309	NAD(P)-binding domain (1);	0.528218	0.21845	N	0.068266	D	0.88265	0.6390	L	0.46741	1.465	0.32310	N	0.563905	D	0.54207	0.965	P	0.56514	0.8	D	0.85935	0.1454	10	0.38643	T	0.18	.	6.8543	0.24032	0.3863:0.0:0.6137:0.0	.	54	Q92781	RDH1_HUMAN	P	54	ENSP00000257895:R54P;ENSP00000447128:R54P	ENSP00000257895:R54P	R	+	2	0	RDH5	54401396	0.906000	0.30813	0.909000	0.35828	0.056000	0.15407	1.391000	0.34475	0.258000	0.21686	0.655000	0.94253	CGA		PASS	0.662	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407493.1	NM_002905		10	29	10	29	---	---	---	---
DGKA	1606	broad.mit.edu	37	12	56347166	56347166	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:56347166G>T	ENST00000331886.5	+	23	2550	c.2096G>T	c.(2095-2097)gGa>gTa	p.G699V	DGKA_ENST00000551156.1_Missense_Mutation_p.G699V|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.G699V	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	699				G -> V (in Ref. 1; CAA44396). {ECO:0000305}.	blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)	p.G699V(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CAAATTGACGGAGAACCCTGG	0.468																																						uc001sij.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(2095-2097)GGA>GTA		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						253.0	248.0	250.0					12																	56347166		2203	4300	6503	SO:0001583	missense	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56347166G>T	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2096G>T	12.37:g.56347166G>T	ENSP00000328405:p.Gly699Val					DGKA_uc001sik.2_Missense_Mutation_p.G699V|DGKA_uc001sil.2_Missense_Mutation_p.G699V|DGKA_uc001sim.2_Missense_Mutation_p.G699V|DGKA_uc001sin.2_Missense_Mutation_p.G699V|DGKA_uc009zof.2_Missense_Mutation_p.G345V|DGKA_uc001sio.2_Missense_Mutation_p.G441V	p.G699V	NM_001345	NP_001336	P23743	DGKA_HUMAN			23	2360	+			699	G -> V (in Ref. 1; CAA44396).				O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	c.2096G>T	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599485	0.87055	.	.	ENSG00000065357	ENST00000331886;ENST00000394147;ENST00000551156	D;D;D	0.91124	-2.79;-2.79;-2.79	4.71	4.71	0.59529	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	D	0.97133	0.9063	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98753	1.0721	10	0.87932	D	0	.	16.8197	0.85742	0.0:0.0:1.0:0.0	.	699	P23743	DGKA_HUMAN	V	699	ENSP00000328405:G699V;ENSP00000377703:G699V;ENSP00000450359:G699V	ENSP00000328405:G699V	G	+	2	0	DGKA	54633433	1.000000	0.71417	0.982000	0.44146	0.895000	0.52256	9.290000	0.96065	2.312000	0.78011	0.561000	0.74099	GGA		PASS	0.468	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			10	338	10	338	---	---	---	---
ANKRD52	283373	broad.mit.edu	37	12	56645804	56645804	+	Silent	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:56645804G>A	ENST00000267116.7	-	15	1708	c.1587C>T	c.(1585-1587)gcC>gcT	p.A529A		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	529								p.A529A(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CTCACAAGAAGGCCTCCTTCC	0.562																																						uc001skm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1585-1587)GCC>GCT		ankyrin repeat domain 52							82.0	86.0	84.0					12																	56645804		1986	4151	6137	SO:0001819	synonymous_variant	283373						protein binding	g.chr12:56645804G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1587C>T	12.37:g.56645804G>A							p.A529A	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN			15	1677	-			529			ANK 15.		A6NE79|B1Q2K2	Silent	SNP	ENST00000267116.7	37	c.1587C>T	CCDS44920.1																																																																																				PASS	0.562	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		19	30	19	30	---	---	---	---
INHBC	3626	broad.mit.edu	37	12	57843575	57843575	+	Missense_Mutation	SNP	A	A	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:57843575A>T	ENST00000309668.2	+	2	956	c.829A>T	c.(829-831)Ata>Tta	p.I277L		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	277					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)	p.I277L(1)		breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GAACTTCTGCATAGGGCAGTG	0.542																																						uc001snv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(829-831)ATA>TTA		inhibin beta C chain preproprotein							89.0	74.0	79.0					12																	57843575		2203	4300	6503	SO:0001583	missense	3626				growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	g.chr12:57843575A>T		CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.829A>T	12.37:g.57843575A>T	ENSP00000308716:p.Ile277Leu						p.I277L	NM_005538	NP_005529	P55103	INHBC_HUMAN			2	956	+			277					A1L3Y2	Missense_Mutation	SNP	ENST00000309668.2	37	c.829A>T	CCDS8938.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.380827	0.42207	.	.	ENSG00000175189	ENST00000309668	D	0.83419	-1.72	4.09	2.94	0.34122	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.150086	0.64402	D	0.000020	T	0.60625	0.2283	N	0.04746	-0.17	0.24145	N	0.995712	B	0.09022	0.002	B	0.09377	0.004	T	0.44907	-0.9297	9	.	.	.	-2.6072	6.7695	0.23587	0.807:0.0:0.193:0.0	.	277	P55103	INHBC_HUMAN	L	277	ENSP00000308716:I277L	.	I	+	1	0	INHBC	56129842	0.981000	0.34729	1.000000	0.80357	0.960000	0.62799	1.464000	0.35288	0.922000	0.37019	0.528000	0.53228	ATA		PASS	0.542	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1	NM_005538		14	37	14	37	---	---	---	---
MON2	23041	broad.mit.edu	37	12	62954451	62954451	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:62954451T>C	ENST00000393632.2	+	26	3981	c.3590T>C	c.(3589-3591)gTt>gCt	p.V1197A	MON2_ENST00000393630.3_Missense_Mutation_p.V1198A|MON2_ENST00000280379.6_Missense_Mutation_p.V1198A|MON2_ENST00000546600.1_Missense_Mutation_p.V1197A|MON2_ENST00000552738.1_Missense_Mutation_p.V1174A|MON2_ENST00000393629.2_Missense_Mutation_p.V1197A	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1197					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.V1197A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CCTGTGCCTGTTCTTATAGGG	0.448																																						uc001sre.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(3589-3591)GTT>GCT		MON2 homolog							86.0	80.0	82.0					12																	62954451		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62954451T>C		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.3590T>C	12.37:g.62954451T>C	ENSP00000377252:p.Val1197Ala					MON2_uc009zqj.2_Missense_Mutation_p.V1197A|MON2_uc010ssl.1_Missense_Mutation_p.V1125A|MON2_uc010ssm.1_Missense_Mutation_p.V1174A|MON2_uc010ssn.1_Missense_Mutation_p.V1197A|MON2_uc001srf.2_Missense_Mutation_p.V960A|MON2_uc001srg.2_Missense_Mutation_p.V72A	p.V1197A	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	26	3981	+			1198					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.3590T>C	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.983119	0.34942	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.70046	0.3179	L	0.36672	1.1	0.58432	D	0.999999	B;B;B;D;B	0.58268	0.034;0.058;0.058;0.982;0.058	B;B;B;D;B	0.70227	0.016;0.037;0.037;0.968;0.037	T	0.68416	-0.5414	9	.	.	.	-8.9407	15.5239	0.75887	0.0:0.0:0.0:1.0	.	1197;1174;1197;72;1197	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	A	1197;1198;1198;1197;1174;1197	ENSP00000377252:V1197A;ENSP00000377250:V1198A;ENSP00000280379:V1198A;ENSP00000447407:V1197A;ENSP00000449215:V1174A;ENSP00000377249:V1197A	.	V	+	2	0	MON2	61240718	1.000000	0.71417	0.999000	0.59377	0.241000	0.25554	4.962000	0.63687	2.136000	0.66102	0.528000	0.53228	GTT		PASS	0.448	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		9	13	9	13	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70933760	70933760	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:70933760C>A	ENST00000261266.5	-	22	5012	c.4983G>T	c.(4981-4983)agG>agT	p.R1661S	PTPRB_ENST00000550857.1_Missense_Mutation_p.R1571S|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1791S|PTPRB_ENST00000334414.6_Missense_Mutation_p.R1879S|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1571S|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1571S	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1661					angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R1661S(2)|p.R1879S(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGGTCGATCCCTACGAATGC	0.408																																						uc001swb.3																			3	Substitution - Missense(3)		lung(3)	lung(2)|skin(1)	3						c.(4981-4983)AGG>AGT		protein tyrosine phosphatase, receptor type, B							86.0	82.0	83.0					12																	70933760		1898	4113	6011	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70933760C>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4983G>T	12.37:g.70933760C>A	ENSP00000261266:p.Arg1661Ser					PTPRB_uc010sto.1_Missense_Mutation_p.R1571S|PTPRB_uc010stp.1_Missense_Mutation_p.R1571S|PTPRB_uc001swc.3_Missense_Mutation_p.R1879S|PTPRB_uc001swa.3_Missense_Mutation_p.R1791S	p.R1661S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		22	5013	-	Renal(347;0.236)		1661			Cytoplasmic (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.4983G>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617434	0.46736	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.02787	4.18;4.2;4.16;4.24;4.19;4.24	5.42	4.53	0.55603	.	0.099287	0.64402	D	0.000003	T	0.08088	0.0202	L	0.51422	1.61	0.38133	D	0.938221	D;D;D;D;D	0.58620	0.967;0.967;0.981;0.968;0.983	P;P;P;P;P	0.59424	0.763;0.763;0.763;0.585;0.857	T	0.17048	-1.0382	10	0.49607	T	0.09	.	9.4814	0.38902	0.0:0.7786:0.0:0.2214	.	1571;1571;1879;1661;1791	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	S	1879;1571;1791;1571;1571;1661	ENSP00000334928:R1879S;ENSP00000393028:R1571S;ENSP00000448058:R1791S;ENSP00000438927:R1571S;ENSP00000447302:R1571S;ENSP00000261266:R1661S	ENSP00000261266:R1661S	R	-	3	2	PTPRB	69220027	0.997000	0.39634	0.999000	0.59377	0.981000	0.71138	0.526000	0.22971	1.284000	0.44531	0.462000	0.41574	AGG		PASS	0.408	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			8	17	8	17	---	---	---	---
SLC6A15	55117	broad.mit.edu	37	12	85255533	85255533	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:85255533C>A	ENST00000266682.5	-	12	2612	c.2071G>T	c.(2071-2073)Ggt>Tgt	p.G691C	SLC6A15_ENST00000552192.1_Missense_Mutation_p.G584C|SLC6A15_ENST00000309283.7_3'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	691					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.G691C(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ATATTTTTACCAAAATTTGGA	0.443																																						uc001szv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(2071-2073)GGT>TGT		solute carrier family 6, member 15 isoform 1							109.0	107.0	107.0					12																	85255533		2203	4300	6503	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85255533C>A	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.2071G>T	12.37:g.85255533C>A	ENSP00000266682:p.Gly691Cys					SLC6A15_uc010sul.1_Missense_Mutation_p.G584C|SLC6A15_uc001szw.1_3'UTR	p.G691C	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			12	2564	-			691			Cytoplasmic (Potential).		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.2071G>T	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290804	0.80914	.	.	ENSG00000072041	ENST00000266682;ENST00000552192;ENST00000548267	T;T	0.75589	-0.75;-0.95	5.85	5.85	0.93711	.	0.374339	0.32357	N	0.006212	T	0.79227	0.4410	L	0.40543	1.245	0.80722	D	1	D	0.53151	0.958	P	0.55161	0.77	T	0.78580	-0.2149	10	0.51188	T	0.08	.	20.1649	0.98147	0.0:1.0:0.0:0.0	.	691	Q9H2J7	S6A15_HUMAN	C	691;584;169	ENSP00000266682:G691C;ENSP00000450145:G584C	ENSP00000266682:G691C	G	-	1	0	SLC6A15	83779664	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.539000	0.53604	2.753000	0.94483	0.655000	0.94253	GGT		PASS	0.443	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		8	16	8	16	---	---	---	---
CEP290	80184	broad.mit.edu	37	12	88449427	88449427	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:88449427G>T	ENST00000552810.1	-	50	7229	c.6886C>A	c.(6886-6888)Ctt>Att	p.L2296I	CEP290_ENST00000547691.2_Missense_Mutation_p.L1356I|CEP290_ENST00000309041.7_Missense_Mutation_p.L2298I|CEP290_ENST00000397838.3_Missense_Mutation_p.L1356I	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2296					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.L2298I(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AGCTGTTTAAGGTCAGTAATG	0.294																																						uc001tar.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|pancreas(1)	7						c.(6886-6888)CTT>ATT		centrosomal protein 290kDa							201.0	182.0	188.0					12																	88449427		1824	4075	5899	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88449427G>T	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.6886C>A	12.37:g.88449427G>T	ENSP00000448012:p.Leu2296Ile					CEP290_uc001taq.2_Missense_Mutation_p.L1356I|uc001tas.2_Intron	p.L2296I	NM_025114	NP_079390	O15078	CE290_HUMAN			50	7230	-			2296			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.6886C>A	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762374	0.69763	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.71467	0.3343	L	0.47716	1.5	0.38138	D	0.938369	D	0.65815	0.995	P	0.59546	0.859	T	0.75207	-0.3399	10	0.59425	D	0.04	.	11.1475	0.48438	0.0874:0.0:0.9126:0.0	.	2296	O15078	CE290_HUMAN	I	1356;2296;2298;1356	ENSP00000446905:L1356I;ENSP00000448012:L2296I;ENSP00000308021:L2298I;ENSP00000380938:L1356I	ENSP00000308021:L2298I	L	-	1	0	CEP290	86973558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.197000	0.58413	2.552000	0.86080	0.585000	0.79938	CTT		PASS	0.294	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		4	10	4	10	---	---	---	---
CEP290	80184	broad.mit.edu	37	12	88479931	88479931	+	Nonsense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:88479931G>C	ENST00000552810.1	-	34	4665	c.4322C>G	c.(4321-4323)tCa>tGa	p.S1441*	CEP290_ENST00000547691.2_Nonsense_Mutation_p.S501*|CEP290_ENST00000309041.7_Nonsense_Mutation_p.S1443*|CEP290_ENST00000397838.3_Nonsense_Mutation_p.S501*	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1441					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.S1443*(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GTCAGGGATTGATCCTGTAGC	0.348																																						uc001tar.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|breast(1)|pancreas(1)	7						c.(4321-4323)TCA>TGA		centrosomal protein 290kDa							112.0	97.0	102.0					12																	88479931		1808	4074	5882	SO:0001587	stop_gained	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88479931G>C	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.4322C>G	12.37:g.88479931G>C	ENSP00000448012:p.Ser1441*					CEP290_uc001taq.2_Nonsense_Mutation_p.S501*	p.S1441*	NM_025114	NP_079390	O15078	CE290_HUMAN			34	4666	-			1441			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Nonsense_Mutation	SNP	ENST00000552810.1	37	c.4322C>G	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	G	46	12.824289	0.99699	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	.	.	.	5.78	5.78	0.91487	.	0.257038	0.40640	N	0.001042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	14.8125	0.70006	0.0:0.0:0.856:0.144	.	.	.	.	X	501;1441;1443;501	.	ENSP00000308021:S1443X	S	-	2	0	CEP290	87004062	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.402000	0.59722	2.736000	0.93811	0.557000	0.71058	TCA		PASS	0.348	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		13	22	13	22	---	---	---	---
BTG1	694	broad.mit.edu	37	12	92539232	92539232	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:92539232C>G	ENST00000256015.3	-	1	441	c.80G>C	c.(79-81)cGc>cCc	p.R27P	C12orf79_ENST00000546975.1_5'Flank|RP11-796E2.4_ENST00000501008.2_RNA|RP11-796E2.4_ENST00000499685.2_RNA|C12orf79_ENST00000549802.1_5'Flank|C12orf79_ENST00000551563.2_5'Flank	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	27					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)	p.R27H(1)|p.R27P(1)		haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CCCCTTGGTGCGGAGAAACTT	0.692			T	MYC	BCLL																																	uc001tby.3				Dom	yes		12	12q22	694	T	"""B-cell translocation gene 1, anti-proliferative"""			L	MYC		BCLL		2	Substitution - Missense(2)		haematopoietic_and_lymphoid_tissue(1)|lung(1)		0						c.(79-81)CGC>CCC		B-cell translocation protein 1							43.0	47.0	46.0					12																	92539232		2203	4300	6503	SO:0001583	missense	694				cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity	g.chr12:92539232C>G		CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.80G>C	12.37:g.92539232C>G	ENSP00000256015:p.Arg27Pro					BTG1_uc001tbv.1_5'Flank|BTG1_uc001tbw.1_5'Flank|BTG1_uc001tbx.1_5'Flank|BTG1_uc009zss.1_5'Flank|uc001tca.2_5'Flank	p.R27P	NM_001731	NP_001722	P62324	BTG1_HUMAN			1	442	-		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)	27					P31607	Missense_Mutation	SNP	ENST00000256015.3	37	c.80G>C	CCDS9043.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194801	0.78902	.	.	ENSG00000133639	ENST00000256015	T	0.25250	1.81	3.92	2.01	0.26516	Anti-proliferative protein (3);	0.198095	0.42821	D	0.000647	T	0.45236	0.1332	M	0.77616	2.38	0.58432	D	0.999997	P	0.38745	0.645	P	0.56127	0.792	T	0.45145	-0.9281	10	0.72032	D	0.01	-5.065	9.6593	0.39945	0.0:0.8226:0.0:0.1774	.	27	P62324	BTG1_HUMAN	P	27	ENSP00000256015:R27P	ENSP00000256015:R27P	R	-	2	0	BTG1	91063363	1.000000	0.71417	0.991000	0.47740	0.845000	0.48019	4.954000	0.63631	0.835000	0.34877	0.455000	0.32223	CGC		PASS	0.692	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1			9	39	9	39	---	---	---	---
ANO4	121601	broad.mit.edu	37	12	101490328	101490328	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:101490328G>C	ENST00000392977.3	+	19	1963	c.1753G>C	c.(1753-1755)Gag>Cag	p.E585Q	ANO4_ENST00000299222.9_Missense_Mutation_p.E105Q|ANO4_ENST00000550015.1_Missense_Mutation_p.E105Q|ANO4_ENST00000392979.3_Missense_Mutation_p.E550Q			Q32M45	ANO4_HUMAN	anoctamin 4	585					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.E550Q(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCCTCGCACAGAGTCTGAGTG	0.478										HNSCC(74;0.22)																												uc010svm.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(1753-1755)GAG>CAG		anoctamin 4							113.0	100.0	104.0					12																	101490328		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101490328G>C	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1753G>C	12.37:g.101490328G>C	ENSP00000376703:p.Glu585Gln	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.E550Q|ANO4_uc001thx.2_Missense_Mutation_p.E585Q|ANO4_uc001thy.2_Missense_Mutation_p.E105Q	p.E585Q	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			19	2325	+			585			Extracellular (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1753G>C		.	.	.	.	.	.	.	.	.	.	G	12.57	1.977823	0.34942	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.55893	0.1949	N	0.20357	0.565	0.58432	D	0.999999	P;B;B	0.40553	0.721;0.286;0.112	P;B;B	0.48901	0.594;0.41;0.287	T	0.48658	-0.9016	10	0.02654	T	1	.	19.5892	0.95501	0.0:0.0:1.0:0.0	.	105;585;550	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	Q	550;105;585;105	ENSP00000376705:E550Q;ENSP00000299222:E105Q;ENSP00000376703:E585Q;ENSP00000450192:E105Q	ENSP00000299222:E105Q	E	+	1	0	ANO4	100014459	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.837000	0.99465	2.729000	0.93468	0.557000	0.71058	GAG		PASS	0.478	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		19	17	19	17	---	---	---	---
CIT	11113	broad.mit.edu	37	12	120139707	120139707	+	Silent	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:120139707G>A	ENST00000261833.7	-	41	5287	c.5235C>T	c.(5233-5235)ctC>ctT	p.L1745L	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Silent_p.L1787L	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1745	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.L1773L(1)|p.L1745L(1)|p.L1787L(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGGTTCCAATGAGGATACTGT	0.512																																						uc001txi.1																			3	Substitution - coding silent(3)		lung(3)	ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(5233-5235)CTC>CTT		citron							196.0	187.0	190.0					12																	120139707		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120139707G>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5235C>T	12.37:g.120139707G>A						CIT_uc001txh.1_Silent_p.L1264L|CIT_uc001txj.1_Silent_p.L1787L	p.L1745L	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	41	5288	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1745			CNH.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.5235C>T	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276326	0.23307	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.68	4.79	0.61399	.	.	.	.	.	T	0.64327	0.2588	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62978	-0.6739	4	.	.	.	.	12.7611	0.57365	0.1368:0.0:0.8632:0.0	.	.	.	.	L	1358	.	.	S	-	2	0	CIT	118624090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.770000	0.68873	1.396000	0.46663	0.650000	0.86243	TCA		PASS	0.512	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		39	97	39	97	---	---	---	---
MLEC	9761	broad.mit.edu	37	12	121132899	121132899	+	Splice_Site	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:121132899G>T	ENST00000228506.3	+	4	1021	c.593G>T	c.(592-594)gGg>gTg	p.G198V	RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_Intron	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	198					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.G198V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						TTTTCCTAGGGGTACTATGAC	0.493																																						uc001tyy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(592-594)GGG>GTG		malectin precursor							382.0	358.0	366.0					12																	121132899		2203	4300	6503	SO:0001630	splice_region_variant	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121132899G>T	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.592-1G>T	12.37:g.121132899G>T							p.G198V	NM_014730	NP_055545	Q14165	MLEC_HUMAN			4	744	+			198			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000228506.3	37	c.593G>T	CCDS9206.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501844	0.85176	.	.	ENSG00000110917	ENST00000228506;ENST00000545525	.	.	.	5.5	5.5	0.81552	Malectin (1);	0.000000	0.85682	D	0.000000	D	0.86066	0.5844	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87183	0.2229	9	0.49607	T	0.09	.	19.7862	0.96440	0.0:0.0:1.0:0.0	.	198	Q14165	MLEC_HUMAN	V	198;115	.	ENSP00000228506:G198V	G	+	2	0	MLEC	119617282	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.114000	0.94329	2.769000	0.95229	0.655000	0.94253	GGG		PASS	0.493	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730	Missense_Mutation	9	193	9	193	---	---	---	---
RAN	5901	broad.mit.edu	37	12	131359125	131359125	+	Silent	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:131359125G>T	ENST00000543796.1	+	5	540	c.282G>T	c.(280-282)tcG>tcT	p.S94S	RAN_ENST00000392367.3_Silent_p.S111S|RAN_ENST00000541630.1_Silent_p.S6S|RAN_ENST00000254675.3_Silent_p.S6S|RAN_ENST00000392369.2_Silent_p.S94S			P62826	RAN_HUMAN	RAN, member RAS oncogene family	94					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|cellular protein complex localization (GO:0034629)|DNA metabolic process (GO:0006259)|gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.S94S(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		ATGTAACATCGAGAGTTACTT	0.408																																						uc001uir.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(280-282)TCG>TCT		ras-related nuclear protein							126.0	106.0	113.0					12																	131359125		2203	4300	6503	SO:0001819	synonymous_variant	5901				androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|melanosome|nuclear pore|nucleoplasm	androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity	g.chr12:131359125G>T	M31469	CCDS9271.1, CCDS73546.1	12q24.33	2014-05-09			ENSG00000132341	ENSG00000132341			9846	protein-coding gene	gene with protein product		601179				8421051	Standard	XM_005253592		Approved	ARA24, TC4, Gsp1	uc001uir.3	P62826	OTTHUMG00000134328	ENST00000543796.1:c.282G>T	12.37:g.131359125G>T						RAN_uc010tbk.1_Silent_p.S6S|RAN_uc010tbl.1_Silent_p.S6S|RAN_uc001uis.2_Silent_p.S114S	p.S94S	NM_006325	NP_006316	P62826	RAN_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)	5	347	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)	94					A8K3Z8|P17080|P28746|P28747|Q6IPB2|Q86V08|Q8NI90|Q9CSP3|Q9CWI7|Q9CZA2|Q9UDJ5|Q9UEU9	Silent	SNP	ENST00000543796.1	37	c.282G>T	CCDS9271.1																																																																																				PASS	0.408	RAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259441.2	NM_006325		4	40	4	40	---	---	---	---
ZNF10	7556	broad.mit.edu	37	12	133733275	133733275	+	Silent	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr12:133733275G>A	ENST00000248211.6	+	5	1665	c.1443G>A	c.(1441-1443)agG>agA	p.R481R	CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000402932.2_Silent_p.R347R|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000426665.2_Silent_p.R481R	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	481					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.R481R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TGCATCAGAGGATACACACTG	0.428																																						uc009zzb.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)|skin(1)	3						c.(1441-1443)AGG>AGA		zinc finger protein 10							98.0	93.0	94.0					12																	133733275		2203	4300	6503	SO:0001819	synonymous_variant	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133733275G>A	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.1443G>A	12.37:g.133733275G>A						ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Silent_p.R481R	p.R481R	NM_015394	NP_056209	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	1890	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	481			C2H2-type 9.		B2RBS1|Q8TC91	Silent	SNP	ENST00000248211.6	37	c.1443G>A	CCDS9283.1																																																																																				PASS	0.428	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394		9	27	9	27	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23912516	23912516	+	Silent	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr13:23912516G>T	ENST00000382292.3	-	9	5772	c.5499C>A	c.(5497-5499)tcC>tcA	p.S1833S	SACS_ENST00000402364.1_Silent_p.S1083S|SACS_ENST00000382298.3_Silent_p.S1833S			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1833					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.S1686S(1)|p.S1833S(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTCACTCAGGGAAAACTTCA	0.478																																						uc001uon.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(5497-5499)TCC>TCA		sacsin							133.0	131.0	131.0					13																	23912516		2203	4299	6502	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912516G>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5499C>A	13.37:g.23912516G>T						SACS_uc001uoo.2_Silent_p.S1686S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.S1833S	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6088	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1833					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.5499C>A	CCDS9300.2																																																																																				PASS	0.478	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		6	56	6	56	---	---	---	---
MTMR6	9107	broad.mit.edu	37	13	25835837	25835837	+	Missense_Mutation	SNP	C	C	G	rs565072549		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr13:25835837C>G	ENST00000381801.5	-	6	1456	c.695G>C	c.(694-696)cGc>cCc	p.R232P	MTMR6_ENST00000540661.1_Missense_Mutation_p.R232P|MTMR6_ENST00000482345.1_5'UTR	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	232	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.R232P(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GTACATATAGCGATTGACTGG	0.383																																						uc001uqf.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(694-696)CGC>CCC		myotubularin related protein 6							136.0	126.0	130.0					13																	25835837		2203	4300	6503	SO:0001583	missense	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25835837C>G	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.695G>C	13.37:g.25835837C>G	ENSP00000371221:p.Arg232Pro					MTMR6_uc001uqe.1_Missense_Mutation_p.R232P	p.R232P	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	6	1014	-		Lung SC(185;0.0225)|Breast(139;0.0351)	232			Myotubularin phosphatase.		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.695G>C	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	C	3.685	-0.064732	0.07273	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.90261	-2.64;-2.64	5.09	4.25	0.50352	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.106321	0.64402	D	0.000003	T	0.81640	0.4865	N	0.17312	0.475	0.54753	D	0.999981	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.001	T	0.74674	-0.3586	10	0.25751	T	0.34	.	11.0105	0.47659	0.0:0.8486:0.0:0.1514	.	232;232	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	P	232	ENSP00000443161:R232P;ENSP00000371221:R232P	ENSP00000371221:R232P	R	-	2	0	MTMR6	24733837	1.000000	0.71417	0.421000	0.26609	0.011000	0.07611	2.581000	0.46077	1.269000	0.44280	-0.136000	0.14681	CGC		PASS	0.383	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		13	29	13	29	---	---	---	---
FLT1	2321	broad.mit.edu	37	13	28893635	28893635	+	Missense_Mutation	SNP	T	T	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr13:28893635T>A	ENST00000282397.4	-	24	3462	c.3211A>T	c.(3211-3213)Atc>Ttc	p.I1071F	FLT1_ENST00000540678.1_Missense_Mutation_p.I289F|FLT1_ENST00000543394.1_Missense_Mutation_p.I94F	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1071	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.I1071F(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTGTCAAAGATAGATTCAGGA	0.468																																						uc001usb.3																			1	Substitution - Missense(1)		lung(1)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(3211-3213)ATC>TTC		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						75.0	67.0	70.0					13																	28893635		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28893635T>A	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3211A>T	13.37:g.28893635T>A	ENSP00000282397:p.Ile1071Phe					FLT1_uc010aap.2_Missense_Mutation_p.I76F|FLT1_uc010aaq.2_Missense_Mutation_p.I196F|FLT1_uc001usa.3_Missense_Mutation_p.I289F	p.I1071F	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	24	3496	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	1071			Cytoplasmic (Potential).|Protein kinase.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.3211A>T	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	T	31	5.091905	0.94149	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	D;D;D	0.84516	-1.86;-1.86;-1.86	5.49	5.49	0.81192	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88247	0.6385	L	0.31420	0.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89843	0.4004	10	0.87932	D	0	.	15.8844	0.79232	0.0:0.0:0.0:1.0	.	1071	P17948	VGFR1_HUMAN	F	1071;94;289	ENSP00000282397:I1071F;ENSP00000437841:I94F;ENSP00000443311:I289F	ENSP00000282397:I1071F	I	-	1	0	FLT1	27791635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.218000	0.71995	0.533000	0.62120	ATC		PASS	0.468	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			10	34	10	34	---	---	---	---
NHLRC3	387921	broad.mit.edu	37	13	39621263	39621263	+	Silent	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr13:39621263C>T	ENST00000379600.3	+	6	1087	c.765C>T	c.(763-765)ttC>ttT	p.F255F	NHLRC3_ENST00000470258.1_Silent_p.F58F|NHLRC3_ENST00000379599.2_Silent_p.F188F	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	255						extracellular vesicular exosome (GO:0070062)		p.F255F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		ATAATTGTTTCACAGAAGAGG	0.393																																						uc001uxc.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(763-765)TTC>TTT		NHL repeat containing 3 isoform a							139.0	139.0	139.0					13																	39621263		2203	4300	6503	SO:0001819	synonymous_variant	387921					extracellular region		g.chr13:39621263C>T		CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.765C>T	13.37:g.39621263C>T						NHLRC3_uc001uxd.2_Silent_p.F188F|NHLRC3_uc001uxe.2_Silent_p.F58F	p.F255F	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)	6	1087	+		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	255					B2RTZ2|B4DTL0|Q69YI9	Silent	SNP	ENST00000379600.3	37	c.765C>T	CCDS31961.1																																																																																				PASS	0.393	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2	NM_001012754		23	44	23	44	---	---	---	---
LCP1	3936	broad.mit.edu	37	13	46730703	46730703	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr13:46730703C>A	ENST00000398576.2	-	8	749	c.361G>T	c.(361-363)Gaa>Taa	p.E121*	LCP1_ENST00000323076.2_Nonsense_Mutation_p.E121*|LCP1_ENST00000460190.1_5'Flank			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	121	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)	p.E121*(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TACTTTTCTTCCTCTGCAAGT	0.373			T	BCL6	NHL																																	uc001vaz.3				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL 		1	Substitution - Nonsense(1)		lung(1)	lung(4)|ovary(3)	7						c.(361-363)GAA>TAA		L-plastin							180.0	177.0	178.0					13																	46730703		2203	4300	6503	SO:0001587	stop_gained	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46730703C>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.361G>T	13.37:g.46730703C>A	ENSP00000381581:p.Glu121*					LCP1_uc001vba.3_Nonsense_Mutation_p.E121*	p.E121*	NM_002298	NP_002289	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	5	487	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	121			Actin-binding 1.|CH 1.		B2R613|B4DUA0|Q5TBN4	Nonsense_Mutation	SNP	ENST00000398576.2	37	c.361G>T	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	C	39	7.447426	0.98289	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.9307	18.854	0.92244	0.0:1.0:0.0:0.0	.	.	.	.	X	121	.	ENSP00000315757:E121X	E	-	1	0	LCP1	45628704	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.689000	0.84165	2.760000	0.94817	0.655000	0.94253	GAA		PASS	0.373	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		28	92	28	92	---	---	---	---
SUCLA2	8803	broad.mit.edu	37	13	48563071	48563071	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr13:48563071C>G	ENST00000378654.3	-	3	373	c.317G>C	c.(316-318)aGa>aCa	p.R106T	SUCLA2_ENST00000544100.1_5'UTR|SUCLA2_ENST00000543413.1_Missense_Mutation_p.R48T|SUCLA2_ENST00000497202.1_5'UTR|SUCLA2_ENST00000534875.1_Missense_Mutation_p.R48T	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	106	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.R106T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TCCTTTTCCTCTACCACCAGC	0.373																																						uc001vbs.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(316-318)AGA>ACA		succinate-CoA ligase, ADP-forming, beta subunit	Succinic acid(DB00139)						119.0	119.0	119.0					13																	48563071		2203	4300	6503	SO:0001583	missense	8803				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr13:48563071C>G	AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.317G>C	13.37:g.48563071C>G	ENSP00000367923:p.Arg106Thr					SUCLA2_uc010tgb.1_Missense_Mutation_p.R46T|SUCLA2_uc010tgc.1_5'UTR|SUCLA2_uc010tgd.1_Missense_Mutation_p.R46T|SUCLA2_uc001vbt.1_RNA|SUCLA2_uc001vbu.1_Missense_Mutation_p.R106T	p.R106T	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN		GBM - Glioblastoma multiforme(144;2.1e-06)	3	374	-		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	106			ATP-grasp.		B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Missense_Mutation	SNP	ENST00000378654.3	37	c.317G>C	CCDS9406.1	.	.	.	.	.	.	.	.	.	.	c	23.2	4.392174	0.83011	.	.	ENSG00000136143	ENST00000378654;ENST00000378645;ENST00000378642;ENST00000534875;ENST00000543413;ENST00000434484	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	5.16	5.16	0.70880	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);ATP-grasp fold, succinyl-CoA synthetase-type (1);	0.000000	0.85682	D	0.000000	D	0.93618	0.7962	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95859	0.8881	10	0.87932	D	0	-23.1559	17.6208	0.88080	0.0:1.0:0.0:0.0	.	106;106	E5KS55;Q9P2R7	.;SUCB1_HUMAN	T	106;84;36;48;48;36	ENSP00000367923:R106T;ENSP00000438182:R48T;ENSP00000441056:R48T;ENSP00000392771:R36T	ENSP00000367909:R36T	R	-	2	0	SUCLA2	47461072	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.391000	0.79828	2.404000	0.81709	0.557000	0.71058	AGA		PASS	0.373	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1			40	81	40	81	---	---	---	---
CAB39L	81617	broad.mit.edu	37	13	49885033	49885033	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr13:49885033C>G	ENST00000355854.4	-	9	1428	c.931G>C	c.(931-933)Gaa>Caa	p.E311Q	CAB39L_ENST00000410043.1_Missense_Mutation_p.E311Q|CAB39L_ENST00000347776.5_Missense_Mutation_p.E311Q|CAB39L_ENST00000409308.1_Missense_Mutation_p.E311Q|CAB39L_ENST00000409130.1_Missense_Mutation_p.E167Q	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	311					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)		p.E311Q(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		TCCGTCCTTTCTTTTTGGAAG	0.473																																						uc001vcw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(931-933)GAA>CAA		calcium binding protein 39-like							170.0	181.0	177.0					13																	49885033		2203	4300	6503	SO:0001583	missense	81617				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding	g.chr13:49885033C>G	AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.931G>C	13.37:g.49885033C>G	ENSP00000348113:p.Glu311Gln					CAB39L_uc001vcx.2_Missense_Mutation_p.E311Q|CAB39L_uc010adf.2_Missense_Mutation_p.E308Q	p.E311Q	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)	9	1429	-		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	311					Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Missense_Mutation	SNP	ENST00000355854.4	37	c.931G>C	CCDS9416.2	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976615	0.92982	.	.	ENSG00000102547	ENST00000355854;ENST00000347776;ENST00000378341;ENST00000409308;ENST00000409130;ENST00000425242;ENST00000410043	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.55	5.55	0.83447	Armadillo-type fold (1);	0.269079	0.41938	D	0.000787	T	0.47322	0.1439	L	0.56340	1.77	0.58432	D	0.999999	P	0.46064	0.872	P	0.54100	0.742	T	0.37731	-0.9693	10	0.72032	D	0.01	-2.5183	18.8561	0.92252	0.0:1.0:0.0:0.0	.	311	Q9H9S4	CB39L_HUMAN	Q	311;311;288;311;167;254;311	ENSP00000348113:E311Q;ENSP00000261669:E311Q;ENSP00000386375:E311Q;ENSP00000387245:E167Q;ENSP00000416719:E254Q;ENSP00000386328:E311Q	ENSP00000261669:E311Q	E	-	1	0	CAB39L	48783034	1.000000	0.71417	0.496000	0.27539	0.828000	0.46876	7.720000	0.84759	2.766000	0.95052	0.655000	0.94253	GAA		PASS	0.473	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044908.3	NM_030925		47	125	47	125	---	---	---	---
SOX1	6656	broad.mit.edu	37	13	112722129	112722129	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr13:112722129C>T	ENST00000330949.1	+	1	217	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	53					chromatin organization (GO:0006325)|forebrain neuron development (GO:0021884)|lens morphogenesis in camera-type eye (GO:0002089)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R53W(1)		lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		CCGGGTCAAACGGCCCATGAA	0.746																																						uc001vsb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)CGG>TGG		SRY (sex determining region Y)-box 1							25.0	29.0	27.0					13																	112722129		2202	4300	6502	SO:0001583	missense	6656				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:112722129C>T		CCDS9523.1	13q34	2008-07-18			ENSG00000182968	ENSG00000182968		"""SRY (sex determining region Y)-boxes"""	11189	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 1"""	602148				9337405	Standard	NM_005986		Approved		uc001vsb.1	O00570	OTTHUMG00000017362	ENST00000330949.1:c.157C>T	13.37:g.112722129C>T	ENSP00000330218:p.Arg53Trp						p.R53W	NM_005986	NP_005977	O00570	SOX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(48;0.132)	1	217	+	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)	53			HMG box.		Q5W0Q1	Missense_Mutation	SNP	ENST00000330949.1	37	c.157C>T	CCDS9523.1	.	.	.	.	.	.	.	.	.	.	c	17.42	3.386109	0.61956	.	.	ENSG00000182968	ENST00000330949	D	0.99329	-5.75	3.46	2.58	0.30949	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000002	D	0.99670	0.9877	H	0.99758	4.755	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.97707	1.0188	10	0.87932	D	0	.	10.675	0.45781	0.3423:0.6577:0.0:0.0	.	53	O00570	SOX1_HUMAN	W	53	ENSP00000330218:R53W	ENSP00000330218:R53W	R	+	1	2	SOX1	111770130	1.000000	0.71417	0.998000	0.56505	0.918000	0.54935	0.659000	0.24994	0.630000	0.30394	0.450000	0.29827	CGG		PASS	0.746	SOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045817.3	NM_005986		6	7	6	7	---	---	---	---
OR11H12	440153	broad.mit.edu	37	14	19377713	19377713	+	Silent	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr14:19377713C>A	ENST00000550708.1	+	1	192	c.120C>A	c.(118-120)atC>atA	p.I40I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I40I(2)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAATTCAGATCTTCCTCTTCT	0.428																																						uc010tkp.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(118-120)ATC>ATA		olfactory receptor, family 11, subfamily H,							61.0	63.0	62.0					14																	19377713		2199	4295	6494	SO:0001819	synonymous_variant	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19377713C>A		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.120C>A	14.37:g.19377713C>A							p.I40I	NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	120	+	all_cancers(95;0.00108)		40			Extracellular (Potential).			Silent	SNP	ENST00000550708.1	37	c.120C>A	CCDS32017.1																																																																																				PASS	0.428	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		17	15	17	15	---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21884067	21884067	+	Splice_Site	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr14:21884067C>T	ENST00000557364.1	-	6	1980		c.e6-1		CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Splice_Site|CHD8_ENST00000430710.3_Splice_Site			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.?(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGCGTCTCTTCTGTAGAGCAA	0.368																																						uc001was.1																			1	Unknown(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.e6-1		chromodomain helicase DNA binding protein 8							164.0	153.0	156.0					14																	21884067		1820	4075	5895	SO:0001630	splice_region_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21884067C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1717-1G>A	14.37:g.21884067C>T						CHD8_uc001war.1_Splice_Site_p.K190_splice	p.K294_splice	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	6	974	-	all_cancers(95;0.00121)							Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Splice_Site	SNP	ENST00000557364.1	37	c.880_splice	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269333	0.80469	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3917	0.87434	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD8	20953907	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.503000	0.66962	2.636000	0.89361	0.655000	0.94253	.		PASS	0.368	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920	Intron	21	76	21	76	---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30105671	30105671	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr14:30105671C>T	ENST00000331968.5	-	7	1244	c.1015G>A	c.(1015-1017)Gtg>Atg	p.V339M	PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Missense_Mutation_p.V347M	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	339					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.V339M(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCCATGACCACATCAGACTCT	0.458																																						uc001wqh.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(1015-1017)GTG>ATG		protein kinase D1							216.0	165.0	183.0					14																	30105671		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30105671C>T		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1015G>A	14.37:g.30105671C>T	ENSP00000333568:p.Val339Met						p.V339M	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	7	1196	-	Hepatocellular(127;0.0604)		339					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.1015G>A	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026732	0.54683	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.66638	-0.22;-0.22	6.17	5.28	0.74379	.	0.294156	0.30742	N	0.008975	T	0.53610	0.1807	N	0.24115	0.695	0.53005	D	0.999965	B	0.16603	0.018	B	0.17098	0.017	T	0.46952	-0.9154	10	0.37606	T	0.19	-21.5179	15.01	0.71542	0.0:0.9327:0.0:0.0673	.	339	Q15139	KPCD1_HUMAN	M	339;347	ENSP00000333568:V339M;ENSP00000390535:V347M	ENSP00000333568:V339M	V	-	1	0	PRKD1	29175422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.995000	0.49441	2.941000	0.99782	0.655000	0.94253	GTG		PASS	0.458	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		5	26	5	26	---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45658053	45658053	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr14:45658053G>A	ENST00000267430.5	+	20	4913	c.4828G>A	c.(4828-4830)Gaa>Aaa	p.E1610K	FANCM_ENST00000542564.2_Missense_Mutation_p.E1584K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1610					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.E1610K(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTGTGTTGATGAAGAGGAGTC	0.294								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)	7						c.(4828-4830)GAA>AAA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							83.0	84.0	84.0					14																	45658053		2203	4298	6501	SO:0001583	missense	57697	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45658053G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.4828G>A	14.37:g.45658053G>A	ENSP00000267430:p.Glu1610Lys					FANCM_uc010anf.2_Missense_Mutation_p.E1584K|FANCM_uc001wwe.3_Missense_Mutation_p.E1146K|FANCM_uc010ang.2_Missense_Mutation_p.E824K	p.E1610K	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			20	4927	+			1610					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.4828G>A	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.767632	0.49574	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.76968	-1.06;-1.06;-1.06	5.66	4.77	0.60923	.	0.434976	0.28560	N	0.014908	D	0.83968	0.5369	M	0.64404	1.975	0.32868	D	0.508829	D;D	0.67145	0.996;0.996	P;P	0.60541	0.876;0.787	D	0.88401	0.3015	10	0.59425	D	0.04	.	13.5432	0.61686	0.076:0.0:0.924:0.0	.	1584;1610	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	K	1610;1584;1126	ENSP00000267430:E1610K;ENSP00000442493:E1584K;ENSP00000452033:E1126K	ENSP00000267430:E1610K	E	+	1	0	FANCM	44727803	1.000000	0.71417	0.972000	0.41901	0.036000	0.12997	3.240000	0.51368	1.522000	0.49001	0.650000	0.86243	GAA		PASS	0.294	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		7	23	7	23	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47389363	47389363	+	Splice_Site	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr14:47389363C>A	ENST00000399232.2	-	10	2247	c.1883G>T	c.(1882-1884)gGa>gTa	p.G628V	MDGA2_ENST00000439988.3_Splice_Site_p.G697V|MDGA2_ENST00000357362.3_Splice_Site_p.G399V|MDGA2_ENST00000426342.1_Splice_Site_p.G399V	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	628					pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G399V(2)|p.G697V(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATAGGCCTTTCCTGAAAACAG	0.358																																						uc001wwj.3																			3	Substitution - Missense(3)		lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1882-1884)GGA>GTA		MAM domain containing 1 isoform 1							116.0	109.0	111.0					14																	47389363		1856	4108	5964	SO:0001630	splice_region_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47389363C>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1883-1G>T	14.37:g.47389363C>A						MDGA2_uc001wwi.3_Missense_Mutation_p.G399V|MDGA2_uc010ani.2_Missense_Mutation_p.G188V	p.G628V	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			10	2079	-			628					F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1883G>T		.	.	.	.	.	.	.	.	.	.	C	21.2	4.105863	0.77096	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.39	5.39	0.77823	.	0.000000	0.50627	U	0.000113	T	0.55146	0.1902	L	0.51422	1.61	0.80722	D	1	P;P	0.41710	0.76;0.507	P;B	0.49953	0.627;0.423	T	0.49082	-0.8976	10	0.36615	T	0.2	.	17.0165	0.86421	0.0:1.0:0.0:0.0	.	399;628	F6W3S7;Q7Z553	.;MDGA2_HUMAN	V	628;399;697;399	ENSP00000400011:G628V;ENSP00000405456:G399V;ENSP00000382178:G697V;ENSP00000349925:G399V	ENSP00000349925:G399V	G	-	2	0	MDGA2	46459113	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	5.588000	0.67517	2.699000	0.92147	0.591000	0.81541	GGA		PASS	0.358	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	Missense_Mutation	8	43	8	43	---	---	---	---
ACTR10	55860	broad.mit.edu	37	14	58678108	58678108	+	Silent	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr14:58678108G>T	ENST00000254286.4	+	5	521	c.441G>T	c.(439-441)ctG>ctT	p.L147L		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	147					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)		p.L147L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						GGGAAAGCCTGGTGTTACCCA	0.383																																						uc001xdf.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(439-441)CTG>CTT		uncharacterized hypothalamus protein HARP11							181.0	181.0	181.0					14																	58678108		2203	4300	6503	SO:0001819	synonymous_variant	55860					cytoplasm		g.chr14:58678108G>T	AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.441G>T	14.37:g.58678108G>T						C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_5'UTR|ACTR10_uc001xdh.2_5'UTR|ACTR10_uc010trp.1_5'Flank|ACTR10_uc010apc.2_5'Flank	p.L147L	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN			5	544	+			147					Q9H9Y5|Q9NWY2	Silent	SNP	ENST00000254286.4	37	c.441G>T	CCDS32090.1																																																																																				PASS	0.383	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1			6	95	6	95	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64491954	64491954	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr14:64491954C>A	ENST00000344113.4	+	41	6279	c.6067C>A	c.(6067-6069)Cag>Aag	p.Q2023K	SYNE2_ENST00000554584.1_Missense_Mutation_p.Q2023K|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q2023K|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2023					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.Q2023K(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGATAGATACCAGACATTACT	0.373																																						uc001xgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(6067-6069)CAG>AAG		spectrin repeat containing, nuclear envelope 2							128.0	119.0	122.0					14																	64491954		1879	4110	5989	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64491954C>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6067C>A	14.37:g.64491954C>A	ENSP00000341781:p.Gln2023Lys					SYNE2_uc001xgl.2_Missense_Mutation_p.Q2023K	p.Q2023K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	41	6297	+			2023			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.6067C>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	9.310	1.055395	0.19907	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.34275	1.37;1.37;1.37	5.9	4.97	0.65823	.	0.103582	0.42964	D	0.000636	T	0.25044	0.0608	L	0.27053	0.805	0.80722	D	1	B;B	0.33940	0.307;0.433	B;B	0.30029	0.051;0.11	T	0.04373	-1.0956	10	0.41790	T	0.15	.	12.8151	0.57660	0.1203:0.749:0.1307:0.0	.	2023;2023	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	K	2023	ENSP00000350719:Q2023K;ENSP00000341781:Q2023K;ENSP00000452570:Q2023K	ENSP00000261678:Q2023K	Q	+	1	0	SYNE2	63561707	0.962000	0.33011	1.000000	0.80357	0.258000	0.26162	2.274000	0.43390	2.800000	0.96347	0.455000	0.32223	CAG		PASS	0.373	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		6	41	6	41	---	---	---	---
PPP1R36	145376	broad.mit.edu	37	14	65056048	65056048	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr14:65056048C>A	ENST00000298705.1	+	12	1357	c.1261C>A	c.(1261-1263)Cct>Act	p.P421T	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	PPR36_HUMAN	protein phosphatase 1, regulatory subunit 36	421					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.P421T(1)									TACATCATGCCCTAAGTAACC	0.333																																						uc001xhl.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1261-1263)CCT>ACT		hypothetical protein LOC145376							112.0	103.0	106.0					14																	65056048		2203	4300	6503	SO:0001583	missense	145376							g.chr14:65056048C>A		CCDS9767.1	14q23.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000165807	ENSG00000165807		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20097	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 50"""	C14orf50			Standard	NM_172365		Approved		uc001xhl.1	Q96LQ0	OTTHUMG00000141316	ENST00000298705.1:c.1261C>A	14.37:g.65056048C>A	ENSP00000298705:p.Pro421Thr					C14orf50_uc001xhm.1_Missense_Mutation_p.P151T	p.P421T	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	12	1357	+			421					Q6NTH6	Missense_Mutation	SNP	ENST00000298705.1	37	c.1261C>A	CCDS9767.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400482	0.25291	.	.	ENSG00000165807	ENST00000298705	T	0.38722	1.12	4.73	-1.26	0.09376	.	1.537070	0.03773	N	0.260045	T	0.29588	0.0738	L	0.29908	0.895	0.09310	N	1	B	0.29646	0.253	B	0.28232	0.087	T	0.30001	-0.9993	10	0.62326	D	0.03	-0.2722	3.7701	0.08637	0.182:0.2906:0.0:0.5274	.	421	Q96LQ0	PPR36_HUMAN	T	421	ENSP00000298705:P421T	ENSP00000298705:P421T	P	+	1	0	C14orf50	64125801	0.019000	0.18553	0.003000	0.11579	0.059000	0.15707	0.074000	0.14662	-0.032000	0.13758	0.650000	0.86243	CCT		PASS	0.333	PPP1R36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280667.1	NM_172365		16	41	16	41	---	---	---	---
CCDC176	80127	broad.mit.edu	37	14	74516689	74516689	+	Silent	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr14:74516689G>T	ENST00000394009.3	+	8	1200	c.1077G>T	c.(1075-1077)gtG>gtT	p.V359V	AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Silent_p.V84V	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	359					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.V58V(1)|p.V359V(1)									GAACAGAAGTGGAAAGATTCT	0.403																																						uc010tup.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1075-1077)GTG>GTT		hypothetical protein LOC80127							114.0	108.0	110.0					14																	74516689		2203	4300	6503	SO:0001819	synonymous_variant	80127							g.chr14:74516689G>T	BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 45"""	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.1077G>T	14.37:g.74516689G>T						C14orf45_uc001xpm.1_RNA	p.V359V	NM_025057	NP_079333	Q8ND07	CN045_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00351)	8	1200	+			359			Potential.		Q0P604|Q9H5P8	Silent	SNP	ENST00000394009.3	37	c.1077G>T	CCDS32119.2																																																																																				PASS	0.403	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1	NM_025057		6	53	6	53	---	---	---	---
ATXN3	4287	broad.mit.edu	37	14	92549498	92549498	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr14:92549498C>A	ENST00000532032.1	-	7	589	c.580G>T	c.(580-582)Gaa>Taa	p.E194*	ATXN3_ENST00000545170.1_Nonsense_Mutation_p.E194*|ATXN3_ENST00000340660.6_Nonsense_Mutation_p.E139*|ATXN3_ENST00000393287.5_Nonsense_Mutation_p.E194*|ATXN3_ENST00000502250.1_Nonsense_Mutation_p.E15*|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000503767.1_Nonsense_Mutation_p.E179*|ATXN3_ENST00000429774.2_Nonsense_Mutation_p.E179*			P54252	ATX3_HUMAN	ataxin 3	194					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E194*(1)		endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		GCTAATTCTTCTCCAATAAGT	0.373																																					Esophageal Squamous(190;752 2094 29897 44875 49530)	uc001yac.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(580-582)GAA>TAA		ataxin 3 reference isoform							152.0	143.0	146.0					14																	92549498		2203	4300	6503	SO:0001587	stop_gained	4287				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding	g.chr14:92549498C>A	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.580G>T	14.37:g.92549498C>A	ENSP00000437157:p.Glu194*					ATXN3_uc010aug.2_Nonsense_Mutation_p.E179*|ATXN3_uc001yad.3_Nonsense_Mutation_p.E139*|ATXN3_uc010auh.2_Nonsense_Mutation_p.E128*|ATXN3_uc001yae.3_Nonsense_Mutation_p.E96*|ATXN3_uc010twl.1_RNA	p.E194*	NM_004993	NP_004984	P54252	ATX3_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	7	649	-		all_cancers(154;0.0768)	194					A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Nonsense_Mutation	SNP	ENST00000532032.1	37	c.580G>T		.	.	.	.	.	.	.	.	.	.	C	35	5.529945	0.96446	.	.	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000429774;ENST00000539454;ENST00000393287;ENST00000502250;ENST00000503767;ENST00000340660;ENST00000532032;ENST00000555381;ENST00000557311;ENST00000554592;ENST00000554672;ENST00000553491;ENST00000556220;ENST00000506466	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	18.7593	0.91843	0.0:1.0:0.0:0.0	.	.	.	.	X	194;194;194;194;194;194;194;179;193;194;15;179;139;194;124;15;193;96;143;88;128	.	ENSP00000339110:E139X	E	-	1	0	ATXN3	91619251	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.829000	0.75314	2.450000	0.82876	0.478000	0.44815	GAA		PASS	0.373	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993		22	64	22	64	---	---	---	---
WDR25	79446	broad.mit.edu	37	14	100847918	100847918	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr14:100847918G>T	ENST00000335290.6	+	2	883	c.657G>T	c.(655-657)gaG>gaT	p.E219D	WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000402312.3_Missense_Mutation_p.E219D|WDR25_ENST00000554175.1_Missense_Mutation_p.E219D|WDR25_ENST00000554998.1_Missense_Mutation_p.E219D	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	219								p.E219D(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				GAGTGTCTGAGTTTATTCAGC	0.562																																						uc010avx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(655-657)GAG>GAT		WD repeat domain 25							44.0	49.0	47.0					14																	100847918		2203	4300	6503	SO:0001583	missense	79446							g.chr14:100847918G>T	BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"""WD repeat domain containing"""	21064	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 67"""	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.657G>T	14.37:g.100847918G>T	ENSP00000334148:p.Glu219Asp					WDR25_uc001yhm.2_Missense_Mutation_p.E211D|WDR25_uc001yhn.2_Missense_Mutation_p.E219D|WDR25_uc010avy.2_RNA|WDR25_uc001yho.2_5'Flank	p.E219D	NM_001161476	NP_001154948	Q64LD2	WDR25_HUMAN			2	750	+		Melanoma(154;0.212)	219					A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	ENST00000335290.6	37	c.657G>T	CCDS32157.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843739	0.32606	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000554175	T;T;T;T	0.20598	5.02;5.02;5.02;2.06	5.63	2.65	0.31530	WD40 repeat-like-containing domain (1);	0.109437	0.39909	N	0.001223	T	0.11836	0.0288	L	0.29908	0.895	0.44000	D	0.996702	B	0.10296	0.003	B	0.08055	0.003	T	0.10870	-1.0611	10	0.15952	T	0.53	-28.4719	6.0984	0.20033	0.0776:0.1351:0.6479:0.1394	.	219	Q64LD2	WDR25_HUMAN	D	219	ENSP00000450661:E219D;ENSP00000385540:E219D;ENSP00000334148:E219D;ENSP00000450727:E219D	ENSP00000334148:E219D	E	+	3	2	WDR25	99917671	1.000000	0.71417	0.674000	0.29902	0.033000	0.12548	1.577000	0.36515	1.367000	0.46095	-0.169000	0.13324	GAG		PASS	0.562	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		11	11	11	11	---	---	---	---
MIR495	574453	broad.mit.edu	37	14	101500125	101500125	+	RNA	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr14:101500125C>T	ENST00000385010.1	+	0	34				MIR543_ENST00000390751.1_RNA	NR_030175.1				microRNA 495																		ATGTTATTTTCGCTTTATATG	0.522																																						hsa-mir-495|MI0003135																			0					0															72.0	67.0	68.0					14																	101500125		1568	3582	5150			574453							g.chr14:101500125C>T			14q32.31	2011-09-12		2008-12-18	ENSG00000207743	ENSG00000207743		"""ncRNAs / Micro RNAs"""	32085	non-coding RNA	RNA, micro		615149		MIRN495			Standard	NR_030175		Approved	hsa-mir-495	uc021scu.1				14.37:g.101500125C>T																+									RNA	SNP	ENST00000385010.1	37	c.34C>T																																																																																					PASS	0.522	MIR495-201	KNOWN	basic	miRNA	miRNA		NR_030175		8	45	8	45	---	---	---	---
PPP2R5C	5527	broad.mit.edu	37	14	102276371	102276371	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr14:102276371G>A	ENST00000334743.5	+	1	140	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	CTD-2017C7.2_ENST00000554859.1_RNA|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.R31Q|PPP2R5C_ENST00000328724.5_Intron|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.R31Q|PPP2R5C_ENST00000557714.1_Missense_Mutation_p.R31Q|PPP2R5C_ENST00000554442.1_Intron|PPP2R5C_ENST00000422945.2_Intron|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.R31Q|PPP2R5C_ENST00000556946.1_Missense_Mutation_p.R31Q|PPP2R5C_ENST00000556068.1_Intron	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	31					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.R31Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCCATATTCGAGGTAAGTTA	0.468																																						uc001yko.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(91-93)CGA>CAA		gamma isoform of regulatory subunit B56, protein							128.0	112.0	117.0					14																	102276371		2203	4300	6503	SO:0001583	missense	5527				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity	g.chr14:102276371G>A	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.92G>A	14.37:g.102276371G>A	ENSP00000333905:p.Arg31Gln					PPP2R5C_uc001ykj.3_Intron|PPP2R5C_uc010txr.1_Intron|PPP2R5C_uc001ykk.2_Intron|PPP2R5C_uc010txt.1_Missense_Mutation_p.R21Q|PPP2R5C_uc001ykn.2_Missense_Mutation_p.R31Q|PPP2R5C_uc001ykp.2_Missense_Mutation_p.R31Q|PPP2R5C_uc010txs.1_Missense_Mutation_p.R21Q	p.R31Q	NM_002719	NP_002710	Q13362	2A5G_HUMAN			1	232	+			31					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	c.92G>A	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441147	0.83993	.	.	ENSG00000078304	ENST00000350249;ENST00000557621;ENST00000445439;ENST00000334743;ENST00000557095	T;T	0.43294	0.96;0.95	5.63	5.63	0.86233	.	.	.	.	.	T	0.38799	0.1054	L	0.43923	1.385	0.80722	D	1	B;B;B;B	0.29432	0.244;0.154;0.024;0.03	B;B;B;B	0.15870	0.01;0.014;0.006;0.001	T	0.22941	-1.0202	9	0.62326	D	0.03	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	31;31;31;31	B4DI74;Q13362-3;Q13362;Q13362-2	.;.;2A5G_HUMAN;.	Q	31	ENSP00000262239:R31Q;ENSP00000333905:R31Q	ENSP00000333905:R31Q	R	+	2	0	PPP2R5C	101346124	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.948000	0.93006	2.652000	0.90054	0.655000	0.94253	CGA		PASS	0.468	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		8	26	8	26	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102467534	102467534	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr14:102467534G>T	ENST00000360184.4	+	20	4402	c.4238G>T	c.(4237-4239)tGg>tTg	p.W1413L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1413	Stem. {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.W1413L(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						GACCGCCATTGGAAACAGCTC	0.423																																						uc001yks.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(4237-4239)TGG>TTG		cytoplasmic dynein 1 heavy chain 1							255.0	258.0	257.0					14																	102467534		2203	4300	6503	SO:0001583	missense	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.chr14:102467534G>T	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.4238G>T	14.37:g.102467534G>T	ENSP00000348965:p.Trp1413Leu						p.W1413L	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			20	4402	+			1413			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.4238G>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	33	5.267527	0.95399	.	.	ENSG00000197102	ENST00000360184	T	0.73047	-0.71	5.85	5.85	0.93711	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.91250	0.7242	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93971	0.7249	10	0.87932	D	0	.	20.1542	0.98100	0.0:0.0:1.0:0.0	.	1413	Q14204	DYHC1_HUMAN	L	1413	ENSP00000348965:W1413L	ENSP00000348965:W1413L	W	+	2	0	DYNC1H1	101537287	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.741000	0.98843	2.767000	0.95098	0.563000	0.77884	TGG		PASS	0.423	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		16	581	16	581	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102493548	102493548	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr14:102493548G>T	ENST00000360184.4	+	45	8973	c.8809G>T	c.(8809-8811)Ggt>Tgt	p.G2937C		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2937	AAA 4. {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.G2937C(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						GCTTCTGATTGGTGTTAGTGG	0.463																																						uc001yks.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(8809-8811)GGT>TGT		cytoplasmic dynein 1 heavy chain 1							355.0	313.0	327.0					14																	102493548		2203	4300	6503	SO:0001583	missense	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.chr14:102493548G>T	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.8809G>T	14.37:g.102493548G>T	ENSP00000348965:p.Gly2937Cys						p.G2937C	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			45	8973	+			2937			AAA 4 (By similarity).|ATP (Potential).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.8809G>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175418	0.94807	.	.	ENSG00000197102	ENST00000360184	D	0.93604	-3.25	5.91	5.91	0.95273	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.105878	0.64402	D	0.000004	D	0.98551	0.9516	H	0.99535	4.615	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99146	1.0857	10	0.87932	D	0	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	2937	Q14204	DYHC1_HUMAN	C	2937	ENSP00000348965:G2937C	ENSP00000348965:G2937C	G	+	1	0	DYNC1H1	101563301	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.531000	0.98054	2.793000	0.96121	0.655000	0.94253	GGT		PASS	0.463	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		10	351	10	351	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102515002	102515002	+	Silent	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr14:102515002G>T	ENST00000360184.4	+	74	13532	c.13368G>T	c.(13366-13368)gtG>gtT	p.V4456V	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4456					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.V4456V(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						ACGAGCTAGTGAAAGGTGCGT	0.607																																						uc001yks.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(13366-13368)GTG>GTT		cytoplasmic dynein 1 heavy chain 1							79.0	66.0	70.0					14																	102515002		2203	4300	6503	SO:0001819	synonymous_variant	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.chr14:102515002G>T	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.13368G>T	14.37:g.102515002G>T							p.V4456V	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			74	13532	+			4456					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.13368G>T	CCDS9966.1																																																																																				PASS	0.607	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		14	39	14	39	---	---	---	---
ZNF839	55778	broad.mit.edu	37	14	102800977	102800977	+	Silent	SNP	G	G	A	rs542551257		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr14:102800977G>A	ENST00000558850.1	+	4	1505	c.1155G>A	c.(1153-1155)ctG>ctA	p.L385L	ZNF839_ENST00000442396.2_Silent_p.L501L|ZNF839_ENST00000559185.1_Silent_p.L385L|ZNF839_ENST00000262236.5_Silent_p.L385L	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	385							metal ion binding (GO:0046872)	p.L501L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGTTTCTTCTGATGAAGGTGA	0.403																																						uc001ylo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1153-1155)CTG>CTA		zinc finger protein 839							122.0	115.0	117.0					14																	102800977		1920	4135	6055	SO:0001819	synonymous_variant	55778					intracellular	zinc ion binding	g.chr14:102800977G>A	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1155G>A	14.37:g.102800977G>A						ZNF839_uc010awk.1_Silent_p.L501L|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Silent_p.L385L|ZNF839_uc001ylr.2_Silent_p.L310L|ZNF839_uc001yls.2_5'UTR|ZNF839_uc001ylt.2_5'Flank	p.L385L	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN			4	1505	+			385					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Silent	SNP	ENST00000558850.1	37	c.1155G>A	CCDS58336.1																																																																																				PASS	0.403	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		13	27	13	27	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105410132	105410132	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr14:105410132G>T	ENST00000333244.5	-	7	11775	c.11656C>A	c.(11656-11658)Ctg>Atg	p.L3886M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3886						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.L3886M(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTTGGGCAGGTGTCCTTTG	0.587																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(11656-11658)CTG>ATG		AHNAK nucleoprotein 2							156.0	163.0	161.0					14																	105410132		1914	4136	6050	SO:0001583	missense	113146					nucleus		g.chr14:105410132G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11656C>A	14.37:g.105410132G>T	ENSP00000353114:p.Leu3886Met					AHNAK2_uc001ypx.2_Missense_Mutation_p.L3786M	p.L3886M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	11776	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3886					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.11656C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	7.992	0.753553	0.15778	.	.	ENSG00000185567	ENST00000333244	T	0.02177	4.41	4.17	-1.54	0.08584	.	.	.	.	.	T	0.04363	0.0120	L	0.31294	0.92	0.09310	N	1	D	0.63046	0.992	D	0.75020	0.985	T	0.45131	-0.9282	9	0.45353	T	0.12	.	4.0015	0.09582	0.2138:0.0:0.2666:0.5196	.	3886	Q8IVF2	AHNK2_HUMAN	M	3886	ENSP00000353114:L3886M	ENSP00000353114:L3886M	L	-	1	2	AHNAK2	104481177	0.191000	0.23288	0.967000	0.41034	0.057000	0.15508	1.272000	0.33109	0.219000	0.20840	0.313000	0.20887	CTG		PASS	0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	338	9	338	---	---	---	---
GPR132	29933	broad.mit.edu	37	14	105517538	105517538	+	Silent	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr14:105517538C>T	ENST00000329797.3	-	4	1847	c.936G>A	c.(934-936)acG>acA	p.T312T	GPR132_ENST00000392585.2_Silent_p.T303T|GPR132_ENST00000539291.2_Silent_p.T312T|GPR132_ENST00000546679.1_5'Flank	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	312					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T312T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GGGAATGGTCCGTGGCCAGCA	0.582																																						uc001yqd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(934-936)ACG>ACA		G protein-coupled receptor 132							154.0	121.0	132.0					14																	105517538		2203	4300	6503	SO:0001819	synonymous_variant	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105517538C>T	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.936G>A	14.37:g.105517538C>T						GPR132_uc001yqc.2_Silent_p.T124T|GPR132_uc001yqe.2_Silent_p.T303T	p.T312T	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1835	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	312			Cytoplasmic (Potential).		A8K7X7|B4E144|Q9BSU2	Silent	SNP	ENST00000329797.3	37	c.936G>A	CCDS9997.1																																																																																				PASS	0.582	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		12	26	12	26	---	---	---	---
MTA1	9112	broad.mit.edu	37	14	105927231	105927231	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr14:105927231C>A	ENST00000331320.7	+	10	1097	c.883C>A	c.(883-885)Ctt>Att	p.L295I	MTA1_ENST00000406191.1_Missense_Mutation_p.L295I|MTA1_ENST00000435036.2_5'Flank|MTA1_ENST00000405646.1_Missense_Mutation_p.L278I	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	295	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L295I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		AGAGGCCAACCTTTTCGAGGA	0.587																																						uc001yqx.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(883-885)CTT>ATT		metastasis associated protein							106.0	106.0	106.0					14																	105927231		2202	4298	6500	SO:0001583	missense	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105927231C>A	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.883C>A	14.37:g.105927231C>A	ENSP00000333633:p.Leu295Ile					MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_Missense_Mutation_p.L209I|MTA1_uc001yra.1_Missense_Mutation_p.L209I|MTA1_uc001yrb.2_Missense_Mutation_p.L56I	p.L295I	NM_004689	NP_004680	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	10	1070	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	295			SANT.		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	c.883C>A	CCDS32169.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324893	0.81580	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000498644;ENST00000434050	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.23	3.33	0.38152	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.59376	0.2189	M	0.63428	1.95	0.80722	D	1	D;P	0.76494	0.999;0.899	D;P	0.83275	0.996;0.656	T	0.61446	-0.7061	10	0.87932	D	0	-15.3919	11.9371	0.52880	0.1754:0.8245:0.0:0.0	.	87;295	Q59FW1;Q13330	.;MTA1_HUMAN	I	204;295;295;278;209;87	ENSP00000333633:L295I;ENSP00000385702:L295I;ENSP00000384180:L278I;ENSP00000394106:L87I	ENSP00000333633:L295I	L	+	1	0	MTA1	104998276	1.000000	0.71417	0.984000	0.44739	0.918000	0.54935	5.920000	0.70017	0.751000	0.32900	0.655000	0.94253	CTT		PASS	0.587	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			7	115	7	115	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24923588	24923588	+	Silent	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr15:24923588G>A	ENST00000329468.2	+	1	3048	c.2574G>A	c.(2572-2574)ggG>ggA	p.G858G		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	858					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G858G(1)									CTGGTTCTGGGAACACACTAC	0.493																																						uc001ywo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(2572-2574)GGG>GGA		hypothetical protein LOC23742							97.0	91.0	93.0					15																	24923588		2203	4300	6503	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24923588G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2574G>A	15.37:g.24923588G>A							p.G858G	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	3048	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	858						Silent	SNP	ENST00000329468.2	37	c.2574G>A	CCDS10015.1																																																																																				PASS	0.493	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		18	49	18	49	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33833011	33833011	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr15:33833011G>T	ENST00000389232.4	+	7	636	c.566G>T	c.(565-567)gGt>gTt	p.G189V	RYR3_ENST00000415757.3_Missense_Mutation_p.G189V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	189	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.G189V(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTATCAAATGGTAACATACAA	0.428																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(565-567)GGT>GTT		ryanodine receptor 3							118.0	115.0	116.0					15																	33833011		1997	4179	6176	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33833011G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.566G>T	15.37:g.33833011G>T	ENSP00000373884:p.Gly189Val					RYR3_uc010bar.2_Missense_Mutation_p.G189V	p.G189V	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	7	636	+		all_lung(180;7.18e-09)	189			MIR 2.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.566G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400030	0.83120	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98345	-4.88;-4.88	5.8	4.88	0.63580	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.060290	0.64402	D	0.000003	D	0.98617	0.9537	M	0.75264	2.295	0.80722	D	1	D;P	0.63046	0.992;0.454	P;B	0.62298	0.9;0.123	D	0.99364	1.0918	10	0.87932	D	0	.	16.2963	0.82776	0.0:0.1461:0.8539:0.0	.	189;189	Q15413-2;Q15413	.;RYR3_HUMAN	V	189	ENSP00000373884:G189V;ENSP00000399610:G189V	ENSP00000354735:G189V	G	+	2	0	RYR3	31620303	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.841000	0.86834	1.422000	0.47177	0.655000	0.94253	GGT		PASS	0.428	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			11	23	11	23	---	---	---	---
PGBD4	161779	broad.mit.edu	37	15	34396159	34396159	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr15:34396159C>A	ENST00000397766.2	+	1	1886	c.1427C>A	c.(1426-1428)cCt>cAt	p.P476H	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	476								p.P476H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		AAGGATAATCCTGAGCACACG	0.433																																						uc001zho.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1426-1428)CCT>CAT		piggyBac transposable element derived 4							74.0	67.0	69.0					15																	34396159		2201	4298	6499	SO:0001583	missense	161779							g.chr15:34396159C>A	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1427C>A	15.37:g.34396159C>A	ENSP00000380872:p.Pro476His					C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank	p.P476H	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	1886	+		all_lung(180;1.76e-08)	476					A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	ENST00000397766.2	37	c.1427C>A	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	c	5.925	0.354664	0.11239	.	.	ENSG00000182405	ENST00000397766	T	0.20881	2.04	1.02	1.02	0.19986	.	68.102800	0.01971	U	0.044097	T	0.22898	0.0553	N	0.08118	0	0.09310	N	1	D	0.61697	0.99	P	0.58660	0.843	T	0.38090	-0.9677	10	0.46703	T	0.11	.	7.8782	0.29605	0.0:1.0:0.0:0.0	.	476	Q96DM1	PGBD4_HUMAN	H	476	ENSP00000380872:P476H	ENSP00000380872:P476H	P	+	2	0	PGBD4	32183451	0.452000	0.25713	0.046000	0.18839	0.182000	0.23217	0.065000	0.14466	0.859000	0.35456	0.306000	0.20318	CCT		PASS	0.433	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			5	52	5	52	---	---	---	---
SLC12A1	6557	broad.mit.edu	37	15	48539204	48539204	+	Missense_Mutation	SNP	A	A	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr15:48539204A>T	ENST00000558405.1	+	11	1565	c.1551A>T	c.(1549-1551)aaA>aaT	p.K517N	SLC12A1_ENST00000396577.3_Missense_Mutation_p.K517N|SLC12A1_ENST00000380993.3_Missense_Mutation_p.K517N			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	517					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.K517N(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GCGCACCCAAAGTGTTCCAGG	0.498																																						uc001zwn.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1549-1551)AAA>AAT		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						188.0	175.0	179.0					15																	48539204		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48539204A>T		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1551A>T	15.37:g.48539204A>T	ENSP00000453409:p.Lys517Asn					SLC12A1_uc010uew.1_Missense_Mutation_p.K323N|SLC12A1_uc010bem.2_Missense_Mutation_p.K517N|SLC12A1_uc001zwq.3_Missense_Mutation_p.K288N|SLC12A1_uc001zwr.3_Missense_Mutation_p.K244N	p.K517N	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	12	1767	+		all_lung(180;0.00219)	517			Cytoplasmic (Potential).		A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.1551A>T	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729561	0.69074	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577	D;D	0.99005	-5.32;-5.32	4.98	2.65	0.31530	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99149	0.9706	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99406	1.0929	10	0.87932	D	0	.	7.7697	0.29001	0.7341:0.0:0.2659:0.0	.	517;517	E9PDW4;Q13621	.;S12A1_HUMAN	N	330;517;517	ENSP00000370381:K517N;ENSP00000379822:K517N	ENSP00000370381:K517N	K	+	3	2	SLC12A1	46326496	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.853000	0.27777	0.409000	0.25649	0.533000	0.62120	AAA		PASS	0.498	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			29	87	29	87	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48782117	48782117	+	Nonsense_Mutation	SNP	C	C	A	rs564713154		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr15:48782117C>A	ENST00000316623.5	-	25	3468	c.3013G>T	c.(3013-3015)Gag>Tag	p.E1005*		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1005	TB 5.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.E1005*(2)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACAGCTCCTCGTACTCAGGA	0.537																																						uc001zwx.1																			2	Substitution - Nonsense(2)		lung(1)|kidney(1)	ovary(2)|large_intestine(1)	3						c.(3013-3015)GAG>TAG		fibrillin 1 precursor							108.0	102.0	104.0					15																	48782117		2198	4296	6494	SO:0001587	stop_gained	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48782117C>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3013G>T	15.37:g.48782117C>A	ENSP00000325527:p.Glu1005*						p.E1005*	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	25	3341	-		all_lung(180;0.00279)	1005			TB 5.		B2RUU0|D2JYH6|Q15972|Q75N87	Nonsense_Mutation	SNP	ENST00000316623.5	37	c.3013G>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	45	11.963042	0.99622	.	.	ENSG00000166147	ENST00000316623	.	.	.	5.56	5.56	0.83823	.	0.257208	0.43110	D	0.000614	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	19.1065	0.93299	0.0:1.0:0.0:0.0	.	.	.	.	X	1005	.	ENSP00000325527:E1005X	E	-	1	0	FBN1	46569409	0.114000	0.22134	0.992000	0.48379	0.944000	0.59088	2.045000	0.41250	2.600000	0.87896	0.655000	0.94253	GAG		PASS	0.537	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			4	54	4	54	---	---	---	---
FAM227B	196951	broad.mit.edu	37	15	49867260	49867260	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr15:49867260G>A	ENST00000299338.6	-	8	896	c.593C>T	c.(592-594)tCc>tTc	p.S198F	FAM227B_ENST00000561064.1_Missense_Mutation_p.S198F	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	198								p.S198F(1)									AAGAGCAATGGAGGCTTCTGA	0.303																																						uc001zxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(592-594)TCC>TTC		hypothetical protein LOC196951							56.0	63.0	61.0					15																	49867260		2196	4294	6490	SO:0001583	missense	196951							g.chr15:49867260G>A		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.593C>T	15.37:g.49867260G>A	ENSP00000299338:p.Ser198Phe					C15orf33_uc001zxm.2_Missense_Mutation_p.S198F	p.S198F	NM_152647	NP_689860	Q96M60	CO033_HUMAN		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)	8	887	-		all_lung(180;0.00187)	198					Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	c.593C>T	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842719	0.71488	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.73	4.73	0.59995	.	0.000000	0.52532	D	0.000066	T	0.78892	0.4355	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.81814	-0.0760	9	0.87932	D	0	-9.2614	14.7426	0.69467	0.0:0.0:1.0:0.0	.	198;198	Q96M60-2;Q96M60	.;CO033_HUMAN	F	198	.	ENSP00000299338:S198F	S	-	2	0	C15orf33	47654552	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	5.224000	0.65288	2.473000	0.83533	0.462000	0.41574	TCC		PASS	0.303	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		10	15	10	15	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63932475	63932475	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr15:63932475C>A	ENST00000443617.2	-	61	11864	c.11777G>T	c.(11776-11778)tGg>tTg	p.W3926L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3926					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.W3926L(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACATTCTAACCAGGCCCATTC	0.498																																						uc002amp.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(11776-11778)TGG>TTG		hect domain and RCC1-like domain 1							158.0	158.0	158.0					15																	63932475		1993	4156	6149	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63932475C>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.11777G>T	15.37:g.63932475C>A	ENSP00000390158:p.Trp3926Leu						p.W3926L	NM_003922	NP_003913	Q15751	HERC1_HUMAN			61	11925	-			3926					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.11777G>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127831	0.94473	.	.	ENSG00000103657	ENST00000443617	T	0.55413	0.52	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.72740	0.3498	M	0.68593	2.085	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.74044	-0.3791	10	0.87932	D	0	.	19.8753	0.96867	0.0:1.0:0.0:0.0	.	3926	Q15751	HERC1_HUMAN	L	3926	ENSP00000390158:W3926L	ENSP00000390158:W3926L	W	-	2	0	HERC1	61719528	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	TGG		PASS	0.498	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		20	45	20	45	---	---	---	---
SNX1	6642	broad.mit.edu	37	15	64418374	64418374	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr15:64418374C>G	ENST00000559844.1	+	6	621	c.607C>G	c.(607-609)Cag>Gag	p.Q203E	SNX1_ENST00000353874.4_Missense_Mutation_p.Q203E|SNX1_ENST00000560829.1_Intron|SNX1_ENST00000261889.5_Missense_Mutation_p.Q203E|SNX1_ENST00000561026.1_Missense_Mutation_p.Q138E			Q13596	SNX1_HUMAN	sorting nexin 1	203	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)	p.Q203E(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GAAGCACTCTCAGAATGGCTT	0.443																																						uc002amv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(607-609)CAG>GAG		sorting nexin 1 isoform a							84.0	82.0	82.0					15																	64418374		2203	4300	6503	SO:0001583	missense	6642				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr15:64418374C>G	BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"""Sorting nexins"""	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.607C>G	15.37:g.64418374C>G	ENSP00000453785:p.Gln203Glu					SNX1_uc010bgv.2_5'UTR|SNX1_uc010uio.1_Missense_Mutation_p.Q203E|SNX1_uc002amw.2_Missense_Mutation_p.Q203E|SNX1_uc002amx.2_Missense_Mutation_p.Q138E|SNX1_uc002amy.2_Missense_Mutation_p.Q132E|SNX1_uc010bgw.2_Missense_Mutation_p.Q105E	p.Q203E	NM_003099	NP_003090	Q13596	SNX1_HUMAN			6	643	+			203			PX.		A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	ENST00000559844.1	37	c.607C>G	CCDS32266.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.524152	0.64747	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T	0.35236	1.32	6.16	6.16	0.99307	Phox homologous domain (5);	0.112408	0.64402	D	0.000007	T	0.29223	0.0727	N	0.16656	0.425	0.80722	D	1	B;B;B;B;B;B	0.13145	0.003;0.007;0.003;0.002;0.006;0.003	B;B;B;B;B;B	0.24974	0.014;0.057;0.021;0.012;0.026;0.021	T	0.05084	-1.0907	10	0.27082	T	0.32	-12.0583	19.848	0.96722	0.0:1.0:0.0:0.0	.	203;113;203;138;203;203	Q6ZRJ8;Q59GU6;Q53GY8;Q13596-2;A6NKH4;Q13596	.;.;.;.;.;SNX1_HUMAN	E	203;203;138	ENSP00000326668:Q203E	ENSP00000261889:Q138E	Q	+	1	0	SNX1	62205427	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CAG		PASS	0.443	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099		13	43	13	43	---	---	---	---
ISL2	64843	broad.mit.edu	37	15	76629258	76629258	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr15:76629258G>T	ENST00000290759.4	+	1	194	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	12					negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G12C(1)		breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						TCCTTTTCTGGGTGCTATGGG	0.468																																					GBM(97;953 1391 16164 31496 36951)	uc002bbw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)GGT>TGT		ISL LIM homeobox 2							289.0	308.0	302.0					15																	76629258		2197	4294	6491	SO:0001583	missense	64843					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:76629258G>T	AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"""Homeoboxes / LIM class"""	18524	protein-coding gene	gene with protein product		609481	"""ISL2 transcription factor, LIM/homeodomain, (islet-2)"""				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.34G>T	15.37:g.76629258G>T	ENSP00000290759:p.Gly12Cys						p.G12C	NM_145805	NP_665804	Q96A47	ISL2_HUMAN			1	112	+			12					B3KM37	Missense_Mutation	SNP	ENST00000290759.4	37	c.34G>T	CCDS10290.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657629	0.67586	.	.	ENSG00000159556	ENST00000290759	D	0.85339	-1.97	5.12	5.12	0.69794	.	0.164731	0.53938	D	0.000057	D	0.83529	0.5274	L	0.42245	1.32	0.53688	D	0.999971	P	0.52170	0.951	P	0.45971	0.499	D	0.86028	0.1511	10	0.72032	D	0.01	.	16.0455	0.80717	0.0:0.0:1.0:0.0	.	12	Q96A47	ISL2_HUMAN	C	12	ENSP00000290759:G12C	ENSP00000290759:G12C	G	+	1	0	ISL2	74416313	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.355000	0.90083	2.366000	0.80165	0.561000	0.74099	GGT		PASS	0.468	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289779.1			9	348	9	348	---	---	---	---
IDH3A	3419	broad.mit.edu	37	15	78454050	78454050	+	Missense_Mutation	SNP	T	T	G	rs61752770	byFrequency	TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr15:78454050T>G	ENST00000299518.2	+	5	500	c.417T>G	c.(415-417)gaT>gaG	p.D139E	IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000558554.1_Missense_Mutation_p.D104E|IDH3A_ENST00000561366.1_5'Flank|IDH3A_ENST00000441490.2_Missense_Mutation_p.D30E	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	139					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.D139E(1)		endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						CTTACACCGATGTAAATATTG	0.418																																						uc002bdd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(415-417)GAT>GAG		isocitrate dehydrogenase 3 (NAD+) alpha	NADH(DB00157)						189.0	181.0	184.0					15																	78454050		2196	4293	6489	SO:0001583	missense	3419				carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr15:78454050T>G		CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"""H-IDH alpha"", ""isocitric dehydrogenase"", ""isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial"", ""NAD+-specific ICDH"", ""NAD(H)-specific isocitrate dehydrogenase alpha subunit"", ""isocitrate dehydrogenase (NAD+) alpha chain"""	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.417T>G	15.37:g.78454050T>G	ENSP00000299518:p.Asp139Glu					IDH3A_uc010umt.1_Missense_Mutation_p.D104E|IDH3A_uc010umu.1_Missense_Mutation_p.D30E|IDH3A_uc002bde.2_Missense_Mutation_p.D89E|IDH3A_uc010umv.1_Missense_Mutation_p.D89E|IDH3A_uc002bdf.2_5'UTR|IDH3A_uc002bdg.2_Missense_Mutation_p.D52E	p.D139E	NM_005530	NP_005521	P50213	IDH3A_HUMAN			5	444	+			139					D3DW83|Q9H3X0	Missense_Mutation	SNP	ENST00000299518.2	37	c.417T>G	CCDS10297.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.265929	0.80358	.	.	ENSG00000166411	ENST00000299518;ENST00000441490	T;T	0.55930	0.49;0.49	6.02	-1.46	0.08800	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.52289	0.1725	L	0.49350	1.555	0.80722	D	1	P;P	0.42296	0.775;0.755	P;P	0.48873	0.593;0.507	T	0.54589	-0.8271	10	0.87932	D	0	-31.065	12.2207	0.54433	0.0:0.4517:0.0:0.5483	.	104;139	B4DSY4;P50213	.;IDH3A_HUMAN	E	139;30	ENSP00000299518:D139E;ENSP00000387506:D30E	ENSP00000299518:D139E	D	+	3	2	IDH3A	76241105	0.006000	0.16342	0.722000	0.30670	0.880000	0.50808	-1.104000	0.03326	-0.490000	0.06707	-0.274000	0.10170	GAT		PASS	0.418	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	NM_005530		41	149	41	149	---	---	---	---
TMC3	342125	broad.mit.edu	37	15	81654635	81654635	+	Missense_Mutation	SNP	C	C	T	rs200101447		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr15:81654635C>T	ENST00000359440.5	-	4	455	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.R107Q|RP11-761I4.3_ENST00000559781.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3									p.R107Q(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGCAAATTTCCGCCAGAGCTA	0.468																																						uc002bgo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)	2						c.(319-321)CGG>CAG		transmembrane channel-like 3		C	GLN/ARG	0,4014		0,0,2007	65.0	62.0	63.0		320	4.1	1.0	15		63	2,8352		0,2,4175	no	missense	TMC3	NM_001080532.1	43	0,2,6182	TT,TC,CC		0.0239,0.0,0.0162	possibly-damaging	107/1101	81654635	2,12366	2007	4177	6184	SO:0001583	missense	342125					integral to membrane		g.chr15:81654635C>T	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.320G>A	15.37:g.81654635C>T	ENSP00000352413:p.Arg107Gln					TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.R107Q	p.R107Q	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			4	320	-			107			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000359440.5	37	c.320G>A	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933609	0.52866	0.0	2.39E-4	ENSG00000188869	ENST00000359440	T	0.65178	-0.14	5.02	4.11	0.48088	.	0.180091	0.34314	N	0.004074	T	0.47116	0.1428	L	0.37697	1.125	0.42061	D	0.991162	B;P	0.50156	0.119;0.932	B;B	0.37304	0.05;0.246	T	0.44544	-0.9321	10	0.34782	T	0.22	-23.2774	11.315	0.49386	0.0:0.8481:0.0:0.1519	.	107;107	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	Q	107	ENSP00000352413:R107Q	ENSP00000352413:R107Q	R	-	2	0	TMC3	79441690	0.998000	0.40836	0.997000	0.53966	0.974000	0.67602	1.741000	0.38238	1.116000	0.41820	0.557000	0.71058	CGG		PASS	0.468	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		18	22	18	22	---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85405880	85405880	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr15:85405880G>A	ENST00000258888.5	+	10	4917	c.4750G>A	c.(4750-4752)Gag>Aag	p.E1584K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1584					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E1584K(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGAAGAGATTGAGATGACCCC	0.572																																						uc002ble.2																			2	Substitution - Missense(2)		lung(2)	stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(4750-4752)GAG>AAG		alpha-kinase 3							63.0	60.0	61.0					15																	85405880		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85405880G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4750G>A	15.37:g.85405880G>A	ENSP00000258888:p.Glu1584Lys					ALPK3_uc010upc.1_5'Flank	p.E1584K	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		10	4917	+			1584					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.4750G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110809	0.94292	.	.	ENSG00000136383	ENST00000258888	T	0.07327	3.2	4.97	4.97	0.65823	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.19685	0.0473	L	0.32530	0.975	0.54753	D	0.999984	D	0.71674	0.998	D	0.77557	0.99	T	0.00561	-1.1670	10	0.87932	D	0	-30.471	15.7728	0.78184	0.0:0.0:1.0:0.0	.	1584	Q96L96	ALPK3_HUMAN	K	1584	ENSP00000258888:E1584K	ENSP00000258888:E1584K	E	+	1	0	ALPK3	83206884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.074000	0.93998	2.578000	0.87016	0.655000	0.94253	GAG		PASS	0.572	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		30	47	30	47	---	---	---	---
WDR93	56964	broad.mit.edu	37	15	90260146	90260146	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr15:90260146C>T	ENST00000268130.7	+	7	862	c.761C>T	c.(760-762)tCc>tTc	p.S254F	RNU6-132P_ENST00000383863.1_RNA|WDR93_ENST00000560294.1_Missense_Mutation_p.S254F	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	254			S -> T (in dbSNP:rs7163367).		electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.S254F(1)		NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TCTCAGAACTCCCTTGGTCCC	0.338																																						uc002boj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(760-762)TCC>TTC		WD repeat domain 93							100.0	99.0	99.0					15																	90260146		2200	4299	6499	SO:0001583	missense	56964				electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	g.chr15:90260146C>T		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.761C>T	15.37:g.90260146C>T	ENSP00000268130:p.Ser254Phe					WDR93_uc010bnr.2_Missense_Mutation_p.S254F	p.S254F	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		7	862	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		254					Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	37	c.761C>T	CCDS32326.1	.	.	.	.	.	.	.	.	.	.	C	6.725	0.502573	0.12822	.	.	ENSG00000140527	ENST00000268130	T	0.24350	1.86	3.21	1.26	0.21427	WD40 repeat-like-containing domain (1);	0.687039	0.13286	N	0.399397	T	0.12603	0.0306	N	0.14661	0.345	0.09310	N	1	B;B	0.29766	0.256;0.087	B;B	0.28232	0.087;0.054	T	0.20739	-1.0266	10	0.62326	D	0.03	-0.901	3.6773	0.08297	0.2661:0.6008:0.0:0.133	.	254;254	Q6P2C0-2;Q6P2C0	.;WDR93_HUMAN	F	254	ENSP00000268130:S254F	ENSP00000268130:S254F	S	+	2	0	WDR93	88061150	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.086000	0.11233	0.346000	0.23899	-0.218000	0.12543	TCC		PASS	0.338	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		9	58	9	58	---	---	---	---
DNM1P46	196968	broad.mit.edu	37	15	100331935	100331935	+	RNA	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr15:100331935G>A	ENST00000341853.1	-	0	2256				AC090825.1_ENST00000408584.1_RNA|RN7SL484P_ENST00000462651.2_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										CCTGCCTTCTGATTTCTCTGG	0.572																																						uc010urx.1																			0					0								Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288.							39.0	40.0	40.0					15																	100331935		876	1991	2867			196968							g.chr15:100331935G>A	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100331935G>A						C15orf51_uc010ury.1_RNA		NR_003260						5		-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37	c.2257C>T																																																																																					PASS	0.572	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		7	33	7	33	---	---	---	---
PCSK6	5046	broad.mit.edu	37	15	101970216	101970216	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr15:101970216C>T	ENST00000348070.1	-	6	706	c.707G>A	c.(706-708)cGa>cAa	p.R236Q	PCSK6_ENST00000331826.7_Missense_Mutation_p.R71Q|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.R236Q|PCSK6_ENST00000398181.2_Missense_Mutation_p.R236Q|PCSK6_ENST00000344273.2_Missense_Mutation_p.R236Q	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	237	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.R236Q(3)|p.R71Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGCATCATATCGTGGAGATGG	0.507																																						uc002bwy.2																			4	Substitution - Missense(4)		lung(4)	pancreas(2)	2						c.(709-711)CGA>CAA		paired basic amino acid cleaving system 4							184.0	197.0	193.0					15																	101970216		2124	4246	6370	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101970216C>T		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.707G>A	15.37:g.101970216C>T	ENSP00000305056:p.Arg236Gln					PCSK6_uc010bpd.2_Missense_Mutation_p.R107Q|PCSK6_uc010bpe.2_Missense_Mutation_p.R237Q|PCSK6_uc002bxa.2_Missense_Mutation_p.R237Q|PCSK6_uc002bxb.2_Missense_Mutation_p.R237Q|PCSK6_uc002bxc.1_Missense_Mutation_p.R237Q|PCSK6_uc002bxd.1_Missense_Mutation_p.R237Q|PCSK6_uc002bxe.2_Missense_Mutation_p.R237Q|PCSK6_uc002bxg.1_Missense_Mutation_p.R237Q	p.R237Q	NM_002570	NP_002561	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		6	1024	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		237			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.710G>A		.	.	.	.	.	.	.	.	.	.	C	29.9	5.044128	0.93685	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3	5.46	5.46	0.80206	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.183165	0.48767	D	0.000178	D	0.93514	0.7930	M	0.79011	2.435	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D;P;D	0.83275	0.98;0.996;0.872;0.968;0.987;0.96;0.994;0.904;0.996	D	0.93336	0.6705	10	0.51188	T	0.08	-21.6884	18.3489	0.90331	0.0:1.0:0.0:0.0	.	237;142;236;237;236;236;237;237;236	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	Q	236;236;141;236;236;71	ENSP00000305056:R236Q;ENSP00000351193:R236Q;ENSP00000344410:R236Q;ENSP00000381243:R236Q;ENSP00000332052:R71Q	ENSP00000332052:R71Q	R	-	2	0	PCSK6	99787739	1.000000	0.71417	0.017000	0.16124	0.846000	0.48090	7.289000	0.78701	2.567000	0.86603	0.650000	0.86243	CGA		PASS	0.507	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		11	77	11	77	---	---	---	---
CHTF18	63922	broad.mit.edu	37	16	847697	847697	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:847697G>C	ENST00000262315.9	+	21	2800	c.2737G>C	c.(2737-2739)Gag>Cag	p.E913Q	CHTF18_ENST00000455171.2_Missense_Mutation_p.E941Q|CHTF18_ENST00000317063.6_Missense_Mutation_p.E1122Q	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	913					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.E913Q(1)		endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CCATCAGCCTGAGAAGGACTT	0.612																																						uc002cke.3																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(2737-2739)GAG>CAG		CTF18, chromosome transmission fidelity factor							62.0	64.0	63.0					16																	847697		1996	4175	6171	SO:0001583	missense	63922				cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:847697G>C	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.2737G>C	16.37:g.847697G>C	ENSP00000262315:p.Glu913Gln					CHTF18_uc002ckf.3_Missense_Mutation_p.E941Q|CHTF18_uc010brf.2_Missense_Mutation_p.E495Q|CHTF18_uc002ckg.3_Missense_Mutation_p.E431Q	p.E913Q	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN			21	2800	+		Hepatocellular(780;0.00335)	913					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	c.2737G>C	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938644	0.52972	.	.	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.10960	2.82;2.86;2.85	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.20618	0.0496	L	0.51422	1.61	0.80722	D	1	D;D	0.58620	0.983;0.971	P;P	0.55577	0.779;0.623	T	0.02519	-1.1147	10	0.20046	T	0.44	-33.3775	16.5496	0.84470	0.0:0.0:1.0:0.0	.	941;913	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	Q	1122;941;913	ENSP00000313029:E1122Q;ENSP00000406252:E941Q;ENSP00000262315:E913Q	ENSP00000262315:E913Q	E	+	1	0	CHTF18	787698	1.000000	0.71417	0.972000	0.41901	0.502000	0.33828	3.954000	0.56708	2.261000	0.74972	0.561000	0.74099	GAG		PASS	0.612	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		15	39	15	39	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2815495	2815495	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:2815495G>T	ENST00000301740.8	+	11	5515	c.4966G>T	c.(4966-4968)Gag>Tag	p.E1656*		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1656	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.E1656*(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGCAGTACCGAGTCCTCTCC	0.572																																						uc002crk.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(4966-4968)GAG>TAG		splicing coactivator subunit SRm300							78.0	70.0	73.0					16																	2815495		2198	4300	6498	SO:0001587	stop_gained	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2815495G>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4966G>T	16.37:g.2815495G>T	ENSP00000301740:p.Glu1656*					SRRM2_uc002crj.1_Nonsense_Mutation_p.E1560*|SRRM2_uc002crl.1_Nonsense_Mutation_p.E1656*|SRRM2_uc010bsu.1_Nonsense_Mutation_p.E1560*	p.E1656*	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	5515	+			1656			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Nonsense_Mutation	SNP	ENST00000301740.8	37	c.4966G>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	44	10.773853	0.99465	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	.	.	.	5.47	5.47	0.80525	.	0.097227	0.45361	D	0.000373	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-2.548	12.5401	0.56165	0.0:0.1676:0.8324:0.0	.	.	.	.	X	1656;1656;908	.	ENSP00000301740:E1656X	E	+	1	0	SRRM2	2755496	0.999000	0.42202	0.979000	0.43373	0.851000	0.48451	3.700000	0.54786	2.566000	0.86566	0.655000	0.94253	GAG		PASS	0.572	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			4	35	4	35	---	---	---	---
ZNF263	10127	broad.mit.edu	37	16	3339825	3339825	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:3339825G>T	ENST00000219069.5	+	6	2195	c.1319G>T	c.(1318-1320)gGg>gTg	p.G440V	ZNF263_ENST00000538765.1_Missense_Mutation_p.G88V|ZNF263_ENST00000574253.1_3'UTR	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	440					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G440V(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CTTGAATGTGGGAAATGCTTC	0.532																																						uc002cuq.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1318-1320)GGG>GTG		zinc finger protein 263							107.0	97.0	100.0					16																	3339825		2197	4300	6497	SO:0001583	missense	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3339825G>T	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.1319G>T	16.37:g.3339825G>T	ENSP00000219069:p.Gly440Val					ZNF263_uc010uww.1_Missense_Mutation_p.G88V|ZNF263_uc002cur.2_Missense_Mutation_p.G88V	p.G440V	NM_005741	NP_005732	O14978	ZN263_HUMAN			6	1651	+			440			C2H2-type 2.		B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	c.1319G>T	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582177	0.65992	.	.	ENSG00000006194	ENST00000538765;ENST00000219069	T;T	0.01495	4.83;4.83	6.01	5.04	0.67666	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.256123	0.28052	N	0.016781	T	0.16727	0.0402	H	0.99042	4.41	0.80722	D	1	D	0.67145	0.996	P	0.56916	0.809	T	0.36744	-0.9735	10	0.52906	T	0.07	.	14.3061	0.66386	0.0:0.0:0.8502:0.1498	.	440	O14978	ZN263_HUMAN	V	88;440	ENSP00000444497:G88V;ENSP00000219069:G440V	ENSP00000219069:G440V	G	+	2	0	ZNF263	3279826	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	3.587000	0.53957	1.521000	0.48983	0.650000	0.86243	GGG		PASS	0.532	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			7	69	7	69	---	---	---	---
SLX4	84464	broad.mit.edu	37	16	3633448	3633448	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:3633448G>T	ENST00000294008.3	-	14	5443	c.4803C>A	c.(4801-4803)taC>taA	p.Y1601*	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1601	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.Y1601*(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCTGGTGAGTGTACTGGAATA	0.597								Direct reversal of damage																														uc002cvp.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(4801-4803)TAC>TAA	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							105.0	97.0	100.0					16																	3633448		2197	4300	6497	SO:0001587	stop_gained	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3633448G>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4803C>A	16.37:g.3633448G>T	ENSP00000294008:p.Tyr1601*						p.Y1601*	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			14	5430	-			1601			Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Nonsense_Mutation	SNP	ENST00000294008.3	37	c.4803C>A	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	46	12.252456	0.99650	.	.	ENSG00000188827	ENST00000294008	.	.	.	5.64	-0.624	0.11552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2693	0.54697	0.2829:0.0:0.7171:0.0	.	.	.	.	X	1601	.	ENSP00000294008:Y1601X	Y	-	3	2	SLX4	3573449	1.000000	0.71417	0.984000	0.44739	0.850000	0.48378	1.190000	0.32126	-0.363000	0.08101	-0.302000	0.09304	TAC		PASS	0.597	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		5	126	5	126	---	---	---	---
METTL22	79091	broad.mit.edu	37	16	8722882	8722882	+	Missense_Mutation	SNP	G	G	T	rs563254628		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:8722882G>T	ENST00000381920.3	+	3	687	c.429G>T	c.(427-429)aaG>aaT	p.K143N	METTL22_ENST00000561758.1_Intron	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	143						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)	p.K143N(1)		large_intestine(5)|lung(4)	9						TGAGAGACAAGGTACATCCCA	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		21558	0.0		0.0	False		,,,				2504	0.001					uc002cyz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(427-429)AAG>AAT		hypothetical protein LOC79091							184.0	192.0	189.0					16																	8722882		2042	4187	6229	SO:0001583	missense	79091						methyltransferase activity	g.chr16:8722882G>T	AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"""chromosome 16 open reading frame 68"""	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.429G>T	16.37:g.8722882G>T	ENSP00000371345:p.Lys143Asn					C16orf68_uc002cza.2_Intron	p.K143N	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN			3	705	+			143					B2RD29|D3DUF2|Q6XYB4|Q9HA03	Missense_Mutation	SNP	ENST00000381920.3	37	c.429G>T	CCDS10533.2	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731914	0.69189	.	.	ENSG00000067365	ENST00000381920;ENST00000163678	T;T	0.51071	2.15;0.72	5.43	4.27	0.50696	.	0.183733	0.37012	N	0.002285	T	0.47154	0.1430	M	0.62723	1.935	0.80722	D	1	P	0.49559	0.925	P	0.46172	0.506	T	0.46428	-0.9192	10	0.46703	T	0.11	-25.6485	8.5859	0.33657	0.1524:0.0:0.8476:0.0	.	143	Q9BUU2	MET22_HUMAN	N	143	ENSP00000371345:K143N;ENSP00000163678:K143N	ENSP00000163678:K143N	K	+	3	2	METTL22	8630383	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.062000	0.30555	2.545000	0.85829	0.561000	0.74099	AAG		PASS	0.537	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251901.1	NM_024109		8	220	8	220	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9857084	9857084	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:9857084G>T	ENST00000396573.2	-	14	4626	c.4317C>A	c.(4315-4317)taC>taA	p.Y1439*	GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.Y1439*|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.Y1439*|GRIN2A_ENST00000562109.1_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1439					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.Y1439*(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGGGGTAGAGTACATATTAT	0.403																																						uc002czo.3																			1	Substitution - Nonsense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(4315-4317)TAC>TAA		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						60.0	62.0	61.0					16																	9857084		2197	4300	6497	SO:0001587	stop_gained	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857084G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.4317C>A	16.37:g.9857084G>T	ENSP00000379818:p.Tyr1439*					GRIN2A_uc010uym.1_Nonsense_Mutation_p.Y1439*|GRIN2A_uc010uyn.1_3'UTR|GRIN2A_uc002czr.3_3'UTR	p.Y1439*	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	4865	-			1439			Cytoplasmic (Potential).		O00669|Q17RZ6	Nonsense_Mutation	SNP	ENST00000396573.2	37	c.4317C>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	46	12.868026	0.99702	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3499	0.55143	0.0763:0.0:0.9237:0.0	.	.	.	.	X	1439	.	.	Y	-	3	2	GRIN2A	9764585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.127000	0.71642	2.733000	0.93635	0.655000	0.94253	TAC		PASS	0.403	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			11	32	11	32	---	---	---	---
XYLT1	64131	broad.mit.edu	37	16	17292262	17292262	+	Missense_Mutation	SNP	A	A	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:17292262A>C	ENST00000261381.6	-	5	1180	c.1096T>G	c.(1096-1098)Tac>Gac	p.Y366D		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	366					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.Y366D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGATGCAGGTAATTAGAGCGC	0.587																																						uc002dfa.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1096-1098)TAC>GAC		xylosyltransferase I							64.0	51.0	55.0					16																	17292262		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17292262A>C	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1096T>G	16.37:g.17292262A>C	ENSP00000261381:p.Tyr366Asp						p.Y366D	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			5	1181	-			366			Lumenal (Potential).		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.1096T>G	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.496330	0.85069	.	.	ENSG00000103489	ENST00000261381	T	0.11169	2.8	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.02301	-1.1180	10	0.51188	T	0.08	-37.9698	14.5306	0.67923	1.0:0.0:0.0:0.0	.	366	Q86Y38	XYLT1_HUMAN	D	366	ENSP00000261381:Y366D	ENSP00000261381:Y366D	Y	-	1	0	XYLT1	17199763	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.231000	0.95317	2.027000	0.59764	0.533000	0.62120	TAC		PASS	0.587	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		10	28	10	28	---	---	---	---
TMC5	79838	broad.mit.edu	37	16	19475265	19475265	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:19475265C>G	ENST00000396229.2	+	8	2153	c.1404C>G	c.(1402-1404)ttC>ttG	p.F468L	TMC5_ENST00000219821.5_Missense_Mutation_p.F222L|TMC5_ENST00000541464.1_Missense_Mutation_p.F468L|TMC5_ENST00000381414.4_Missense_Mutation_p.F468L|TMC5_ENST00000564959.1_Missense_Mutation_p.F151L|TMC5_ENST00000561503.1_Missense_Mutation_p.F109L|TMC5_ENST00000542583.2_Missense_Mutation_p.F468L	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	468					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.F468L(1)|p.F468F(1)|p.F222L(1)|p.F222F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCCTGAACTTCAGCTTCATCA	0.458																																						uc002dgc.3																			4	Substitution - Missense(2)|Substitution - coding silent(2)		lung(4)	skin(1)	1						c.(1402-1404)TTC>TTG		transmembrane channel-like 5 isoform a							128.0	113.0	118.0					16																	19475265		2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19475265C>G	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.1404C>G	16.37:g.19475265C>G	ENSP00000379531:p.Phe468Leu					TMC5_uc010vaq.1_Missense_Mutation_p.F468L|TMC5_uc002dgb.3_Missense_Mutation_p.F468L|TMC5_uc010var.1_Missense_Mutation_p.F468L|TMC5_uc002dgd.1_Missense_Mutation_p.F222L|TMC5_uc002dge.3_Missense_Mutation_p.F222L|TMC5_uc002dgf.3_Missense_Mutation_p.F151L|TMC5_uc002dgg.3_Missense_Mutation_p.F109L	p.F468L	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN			8	2153	+			468			Helical; (Potential).		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.1404C>G	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373907	0.24857	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	5.68	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.63522	0.2518	L	0.51422	1.61	0.45015	D	0.998031	D;B;D;D;D;D	0.89917	1.0;0.125;0.999;0.999;1.0;1.0	D;B;D;D;D;D	0.91635	0.999;0.074;0.994;0.937;0.997;0.999	T	0.56673	-0.7940	10	0.25106	T	0.35	-29.3945	12.2438	0.54558	0.0:0.8639:0.0:0.1361	.	468;151;222;222;468;468	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	L	468;468;468;468;222;151	ENSP00000441227:F468L;ENSP00000370822:F468L;ENSP00000379531:F468L;ENSP00000446274:F468L;ENSP00000219821:F222L	ENSP00000219821:F222L	F	+	3	2	TMC5	19382766	0.970000	0.33590	1.000000	0.80357	0.530000	0.34684	0.200000	0.17257	2.686000	0.91538	0.650000	0.86243	TTC		PASS	0.458	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		16	37	16	37	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20548587	20548587	+	Missense_Mutation	SNP	G	G	A	rs574115845		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:20548587G>A	ENST00000329697.6	-	14	1895	c.1727C>T	c.(1726-1728)gCg>gTg	p.A576V	ACSM2B_ENST00000567001.1_Missense_Mutation_p.A576V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A576V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A497V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	576					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.A576V(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCCTCACTGCGCACGGGCTTT	0.463													g|||	1	0.000199681	0.0	0.0	5008	,	,		18442	0.001		0.0	False		,,,				2504	0.0					uc002dhj.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1726-1728)GCG>GTG		acyl-CoA synthetase medium-chain family member							245.0	224.0	231.0					16																	20548587		2202	4300	6502	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20548587G>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1727C>T	16.37:g.20548587G>A	ENSP00000327453:p.Ala576Val					ACSM2B_uc002dhk.3_Missense_Mutation_p.A576V	p.A576V	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			15	1937	-			576					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1727C>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	9.688	1.151028	0.21371	.	.	ENSG00000066813	ENST00000329697	T	0.44482	0.92	2.53	-0.746	0.11095	.	.	.	.	.	T	0.19406	0.0466	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.13407	0.009	T	0.17410	-1.0370	9	0.51188	T	0.08	-3.063	3.9061	0.09183	0.2593:0.3961:0.3446:0.0	.	576	Q68CK6	ACS2B_HUMAN	V	576	ENSP00000327453:A576V	ENSP00000327453:A576V	A	-	2	0	ACSM2B	20456088	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.841000	0.27613	-0.137000	0.11455	-0.173000	0.13275	GCG		PASS	0.463	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		36	86	36	86	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21151983	21151983	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:21151983C>A	ENST00000261383.3	-	5	569	c.570G>T	c.(568-570)gaG>gaT	p.E190D	DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Missense_Mutation_p.E190D	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	190	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.E190D(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATGTCTTTACCTCCTTCTTCA	0.468																																						uc010vbe.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(568-570)GAG>GAT		dynein, axonemal, heavy chain 3							225.0	180.0	195.0					16																	21151983		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21151983C>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.570G>T	16.37:g.21151983C>A	ENSP00000261383:p.Glu190Asp					DNAH3_uc002die.2_Missense_Mutation_p.E161D	p.E190D	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	5	570	-			190			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.570G>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	9.866	1.197714	0.22037	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.22743	1.94;2.1	5.17	0.569	0.17340	.	0.532670	0.19203	N	0.120128	T	0.11580	0.0282	L	0.44542	1.39	0.09310	N	1	B;B	0.32245	0.361;0.024	B;B	0.21360	0.034;0.006	T	0.24083	-1.0170	10	0.17832	T	0.49	.	4.9374	0.13948	0.0:0.5073:0.169:0.3237	.	190;161	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	D	190;190;161	ENSP00000261383:E190D;ENSP00000394245:E190D	ENSP00000261383:E190D	E	-	3	2	DNAH3	21059484	0.000000	0.05858	0.056000	0.19401	0.033000	0.12548	-0.418000	0.07080	0.273000	0.22049	0.655000	0.94253	GAG		PASS	0.468	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		6	72	6	72	---	---	---	---
DCTN5	84516	broad.mit.edu	37	16	23677023	23677023	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:23677023C>A	ENST00000300087.2	+	5	576	c.425C>A	c.(424-426)cCa>cAa	p.P142Q	DCTN5_ENST00000568589.1_Missense_Mutation_p.P142Q|DCTN5_ENST00000563998.1_Missense_Mutation_p.P142Q	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	142					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)		p.P142Q(1)		endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		GTGGTTCCACCATTCACTGTC	0.393																																						uc002dly.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(424-426)CCA>CAA		dynactin 5							92.0	84.0	87.0					16																	23677023		2197	4300	6497	SO:0001583	missense	84516					centrosome	transferase activity	g.chr16:23677023C>A		CCDS10615.1, CCDS58435.1, CCDS58436.1	16p12.1	2008-02-05			ENSG00000166847	ENSG00000166847			24594	protein-coding gene	gene with protein product		612962				10525537, 15043994	Standard	NM_032486		Approved	MGC3248, p25	uc002dly.2	Q9BTE1	OTTHUMG00000131610	ENST00000300087.2:c.425C>A	16.37:g.23677023C>A	ENSP00000300087:p.Pro142Gln						p.P142Q	NM_032486	NP_115875	Q9BTE1	DCTN5_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	5	482	+			142					A8K9X8|H3BN51|H3BQA4	Missense_Mutation	SNP	ENST00000300087.2	37	c.425C>A	CCDS10615.1	.	.	.	.	.	.	.	.	.	.	C	34	5.309291	0.95629	.	.	ENSG00000166847	ENST00000300087	.	.	.	5.4	5.4	0.78164	Trimeric LpxA-like (1);	0.000000	0.85682	D	0.000000	T	0.79851	0.4517	M	0.82823	2.61	0.80722	D	1	D	0.65815	0.995	D	0.64042	0.921	T	0.82671	-0.0342	9	0.87932	D	0	-8.2544	17.0373	0.86479	0.0:1.0:0.0:0.0	.	142	Q9BTE1	DCTN5_HUMAN	Q	142	.	ENSP00000300087:P142Q	P	+	2	0	DCTN5	23584524	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	6.884000	0.75600	2.686000	0.91538	0.650000	0.86243	CCA		PASS	0.393	DCTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254497.1	NM_032486		5	34	5	34	---	---	---	---
PLK1	5347	broad.mit.edu	37	16	23701356	23701356	+	Missense_Mutation	SNP	C	C	T	rs34001032	byFrequency	TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:23701356C>T	ENST00000300093.4	+	10	1895	c.1784C>T	c.(1783-1785)tCg>tTg	p.S595L	CTD-2196E14.5_ENST00000566143.1_RNA	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	595			S -> L (in dbSNP:rs34001032).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.S595L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		AGCTCACGCTCGGCCAGCAAC	0.652																																					Colon(12;240 564 27038 33155)	uc002dlz.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(1783-1785)TCG>TTG		polo-like kinase 1		C	LEU/SER	0,4394		0,0,2197	48.0	46.0	46.0		1784	5.1	0.9	16	dbSNP_126	46	1,8599		0,1,4299	no	missense	PLK1	NM_005030.3	145	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	595/604	23701356	1,12993	2197	4300	6497	SO:0001583	missense	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23701356C>T		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.1784C>T	16.37:g.23701356C>T	ENSP00000300093:p.Ser595Leu						p.S595L	NM_005030	NP_005021	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	10	1837	+			595					Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.1784C>T	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032366	0.54790	0.0	1.16E-4	ENSG00000166851	ENST00000300093;ENST00000425844	T	0.66638	-0.22	5.14	5.14	0.70334	.	0.145931	0.46758	D	0.000266	T	0.61726	0.2370	M	0.75447	2.3	0.47905	D	0.999547	P	0.50272	0.933	B	0.30646	0.118	T	0.71724	-0.4506	10	0.54805	T	0.06	-16.3354	16.0918	0.81094	0.0:1.0:0.0:0.0	rs34001032	595	P53350	PLK1_HUMAN	L	595;498	ENSP00000300093:S595L	ENSP00000300093:S595L	S	+	2	0	PLK1	23608857	1.000000	0.71417	0.936000	0.37596	0.615000	0.37417	6.696000	0.74598	2.377000	0.81083	0.561000	0.74099	TCG		PASS	0.652	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		5	19	5	19	---	---	---	---
CD19	930	broad.mit.edu	37	16	28943342	28943342	+	Silent	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:28943342C>A	ENST00000324662.3	+	1	65	c.21C>A	c.(19-21)ctC>ctA	p.L7L	CD19_ENST00000538922.1_Silent_p.L7L|CD19_ENST00000567541.1_Silent_p.L7L			P15391	CD19_HUMAN	CD19 molecule	7					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)	p.L7L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CTCGCCTCCTCTTCTTCCTCC	0.617																																						uc002drs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(19-21)CTC>CTA		CD19 antigen precursor							100.0	89.0	93.0					16																	28943342		2197	4300	6497	SO:0001819	synonymous_variant	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28943342C>A		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.21C>A	16.37:g.28943342C>A						uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.L7L	p.L7L	NM_001770	NP_001761	P15391	CD19_HUMAN			1	83	+			7					A0N0P9|F5H635|Q96S68|Q9BRD6	Silent	SNP	ENST00000324662.3	37	c.21C>A	CCDS10644.1																																																																																				PASS	0.617	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			6	80	6	80	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31425870	31425870	+	Silent	SNP	C	C	A	rs149370240		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:31425870C>A	ENST00000389202.2	+	17	2144	c.2095C>A	c.(2095-2097)Cga>Aga	p.R699R		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	699					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.R699R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CACTTTGACTCGAAGAAAAAC	0.522																																						uc002ebv.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2095-2097)CGA>AGA		integrin, alpha D precursor							197.0	222.0	213.0					16																	31425870		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31425870C>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2095C>A	16.37:g.31425870C>A						ITGAD_uc010cap.1_Silent_p.R700R	p.R699R	NM_005353	NP_005344	Q13349	ITAD_HUMAN			17	2144	+			699			Extracellular (Potential).		Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.2095C>A	CCDS32438.1																																																																																				PASS	0.522	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		8	366	8	366	---	---	---	---
ABCC11	85320	broad.mit.edu	37	16	48212568	48212568	+	Silent	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:48212568C>A	ENST00000394747.1	-	23	3637	c.3288G>T	c.(3286-3288)cgG>cgT	p.R1096R	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Silent_p.R1096R|ABCC11_ENST00000353782.5_Silent_p.R1096R|ABCC11_ENST00000356608.2_Silent_p.R1096R	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1096	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.R1096R(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CCAAGCCAATCCGGGCAGTGG	0.582																																						uc002eff.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3286-3288)CGG>CGT		ATP-binding cassette, sub-family C, member 11							93.0	84.0	87.0					16																	48212568		2201	4300	6501	SO:0001819	synonymous_variant	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48212568C>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3288G>T	16.37:g.48212568C>A						ABCC11_uc002efg.1_Silent_p.R1096R|ABCC11_uc002efh.1_Silent_p.R1096R|ABCC11_uc010cbg.1_RNA	p.R1096R	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			23	3638	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1096			Cytoplasmic (Potential).|ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.3288G>T	CCDS10732.1																																																																																				PASS	0.582	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		10	22	10	22	---	---	---	---
NOD2	64127	broad.mit.edu	37	16	50759418	50759418	+	Silent	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:50759418C>G	ENST00000300589.2	+	10	3006	c.2901C>G	c.(2899-2901)ctC>ctG	p.L967L		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	967					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.L967L(2)|p.Q968*(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGAACCATCTCCAGGATGAAG	0.413																																						uc002egm.1																			3	Substitution - coding silent(2)|Substitution - Nonsense(1)		lung(3)	ovary(3)|skin(1)	4						c.(2899-2901)CTC>CTG		nucleotide-binding oligomerization domain							94.0	93.0	93.0					16																	50759418		2198	4300	6498	SO:0001819	synonymous_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50759418C>G	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2901C>G	16.37:g.50759418C>G						NOD2_uc010vgq.1_Silent_p.L12L	p.L967L	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			10	3006	+		all_cancers(37;0.0156)	967			LRR 7.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	c.2901C>G	CCDS10746.1																																																																																				PASS	0.413	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		22	39	22	39	---	---	---	---
SLC6A2	6530	broad.mit.edu	37	16	55719166	55719166	+	Silent	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:55719166C>G	ENST00000379906.2	+	4	1011	c.756C>G	c.(754-756)ctC>ctG	p.L252L	SLC6A2_ENST00000219833.8_Silent_p.L252L|SLC6A2_ENST00000566163.1_Silent_p.L252L|SLC6A2_ENST00000561820.1_Silent_p.L252L|SLC6A2_ENST00000414754.3_Silent_p.L252L|SLC6A2_ENST00000568943.1_Silent_p.L252L|SLC6A2_ENST00000567238.1_Silent_p.L147L	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	252					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)	p.L252L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ATTTTAGCCTCTGGAAAGGGG	0.483																																						uc002eif.2																			2	Substitution - coding silent(2)		lung(2)	lung(4)|ovary(2)|pancreas(2)	8						c.(754-756)CTC>CTG		solute carrier family 6 member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						150.0	137.0	141.0					16																	55719166		2198	4300	6498	SO:0001819	synonymous_variant	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55719166C>G		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.756C>G	16.37:g.55719166C>G						SLC6A2_uc010ccd.2_Silent_p.L252L|SLC6A2_uc002eig.2_Silent_p.L252L|SLC6A2_uc002eih.2_Silent_p.L252L|SLC6A2_uc002eii.2_Silent_p.L147L|SLC6A2_uc002eij.2_Silent_p.L11L	p.L252L	NM_001043	NP_001034	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	5	867	+			252			Helical; Name=4; (Potential).		B2R707|B4DX48|Q96KH8	Silent	SNP	ENST00000379906.2	37	c.756C>G	CCDS10754.1																																																																																				PASS	0.483	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			19	67	19	67	---	---	---	---
SLC6A2	6530	broad.mit.edu	37	16	55731808	55731808	+	Splice_Site	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:55731808G>T	ENST00000379906.2	+	9	1515		c.e9-1		SLC6A2_ENST00000219833.8_Splice_Site|SLC6A2_ENST00000566163.1_Splice_Site|SLC6A2_ENST00000561820.1_Splice_Site|SLC6A2_ENST00000414754.3_Splice_Site|SLC6A2_ENST00000568943.1_Splice_Site|SLC6A2_ENST00000567238.1_Splice_Site	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2						monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)	p.?(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GTTCCCTCCAGATGGGAGGCA	0.597																																						uc002eif.2																			2	Unknown(2)		lung(2)	lung(4)|ovary(2)|pancreas(2)	8						c.e10-1		solute carrier family 6 member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						57.0	53.0	55.0					16																	55731808		2198	4300	6498	SO:0001630	splice_region_variant	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55731808G>T		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1261-1G>T	16.37:g.55731808G>T						SLC6A2_uc010ccd.2_Splice_Site_p.M421_splice|SLC6A2_uc002eig.2_Splice_Site_p.M421_splice|SLC6A2_uc002eih.2_Splice_Site_p.M421_splice|SLC6A2_uc002eii.2_Splice_Site_p.M316_splice|SLC6A2_uc002eij.2_Splice_Site_p.M135_splice	p.M421_splice	NM_001043	NP_001034	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	10	1372	+								B2R707|B4DX48|Q96KH8	Splice_Site	SNP	ENST00000379906.2	37	c.1261_splice	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458683	0.84317	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2028	0.86910	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A2	54289309	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	9.014000	0.93635	2.350000	0.79820	0.555000	0.69702	.		PASS	0.597	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2		Intron	7	19	7	19	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61858997	61858997	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:61858997G>A	ENST00000577390.1	-	5	1708	c.754C>T	c.(754-756)Cac>Tac	p.H252Y	CDH8_ENST00000584337.1_Missense_Mutation_p.H252Y|CDH8_ENST00000577730.1_Missense_Mutation_p.H252Y|CDH8_ENST00000299345.6_Missense_Mutation_p.H252Y	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	252	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.H252Y(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCACCAGAGTGTCCACCCATA	0.453																																						uc002eog.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(754-756)CAC>TAC		cadherin 8, type 2 preproprotein							134.0	119.0	124.0					16																	61858997		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61858997G>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.754C>T	16.37:g.61858997G>A	ENSP00000462701:p.His252Tyr					CDH8_uc002eoh.2_Missense_Mutation_p.H21Y	p.H252Y	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	5	1006	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	252			Extracellular (Potential).|Cadherin 2.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.754C>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	33	5.237276	0.95240	.	.	ENSG00000150394	ENST00000299345	T	0.58797	0.31	6.02	6.02	0.97574	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.68897	0.3051	L	0.29908	0.895	0.80722	D	1	D;P	0.89917	1.0;0.922	D;P	0.76071	0.987;0.536	T	0.69932	-0.5011	10	0.72032	D	0.01	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	68;252	Q3LID3;P55286	.;CADH8_HUMAN	Y	252	ENSP00000299345:H252Y	ENSP00000299345:H252Y	H	-	1	0	CDH8	60416498	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.807000	0.99171	2.857000	0.98124	0.650000	0.86243	CAC		PASS	0.453	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		13	13	13	13	---	---	---	---
TANGO6	79613	broad.mit.edu	37	16	68893908	68893908	+	Silent	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:68893908C>A	ENST00000261778.1	+	2	228	c.216C>A	c.(214-216)ctC>ctA	p.L72L		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	72						integral component of membrane (GO:0016021)		p.L72L(1)									ATCTGAAACTCCTAAGAGATG	0.408																																						uc002ewi.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(214-216)CTC>CTA		transmembrane and coiled-coil domains 7							84.0	80.0	81.0					16																	68893908		1872	4104	5976	SO:0001819	synonymous_variant	79613					integral to membrane	binding	g.chr16:68893908C>A		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.216C>A	16.37:g.68893908C>A						TMCO7_uc002ewh.2_Silent_p.L72L	p.L72L	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	2	228	+		Ovarian(137;0.0568)	72					Q569F9|Q9H9K1	Silent	SNP	ENST00000261778.1	37	c.216C>A	CCDS45516.1																																																																																				PASS	0.408	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		5	48	5	48	---	---	---	---
ZNF23	7571	broad.mit.edu	37	16	71483756	71483756	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:71483756C>A	ENST00000393539.2	-	6	985	c.172G>T	c.(172-174)Gaa>Taa	p.E58*	ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000497160.1_3'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000564528.1_5'UTR|ZNF23_ENST00000428724.2_5'UTR|ZNF23_ENST00000357254.4_Nonsense_Mutation_p.E58*|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000417828.1_Nonsense_Mutation_p.E58*	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	58					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E58*(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TCATACATTTCCTTTGTCAAA	0.333																																						uc002faf.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(172-174)GAA>TAA		zinc finger protein 23							52.0	50.0	51.0					16																	71483756		2198	4299	6497	SO:0001587	stop_gained	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71483756C>A	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.172G>T	16.37:g.71483756C>A	ENSP00000377171:p.Glu58*					ZNF23_uc002fad.2_5'UTR|ZNF23_uc002fae.2_5'UTR|ZNF23_uc010vmf.1_5'UTR|ZNF23_uc002fag.2_5'UTR|ZNF23_uc002fah.2_Nonsense_Mutation_p.E58*|ZNF23_uc002fai.2_Nonsense_Mutation_p.E97*	p.E58*	NM_145911	NP_666016	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	986	-		Ovarian(137;0.00768)	58					Q8NDP5|Q96IT3|Q9UG42	Nonsense_Mutation	SNP	ENST00000393539.2	37	c.172G>T	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	C	8.959	0.970042	0.18659	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828	.	.	.	4.16	-0.406	0.12389	.	1.045950	0.07563	N	0.917335	.	.	.	.	.	.	0.23036	N	0.998395	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-1.7665	6.5955	0.22669	0.0:0.5083:0.0:0.4917	.	.	.	.	X	58	.	ENSP00000349796:E58X	E	-	1	0	ZNF23	70041257	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	0.005000	0.13129	-0.021000	0.14009	-0.140000	0.14226	GAA		PASS	0.333	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		11	17	11	17	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72845851	72845851	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:72845851G>C	ENST00000268489.5	-	6	4288	c.3616C>G	c.(3616-3618)Ctc>Gtc	p.L1206V	RP5-991G20.2_ENST00000558618.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.L292V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1206					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L1206V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTCGAAGAGAGGGGAGACTCT	0.532																																						uc002fck.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(3616-3618)CTC>GTC		zinc finger homeobox 3 isoform A							155.0	154.0	154.0					16																	72845851		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72845851G>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3616C>G	16.37:g.72845851G>C	ENSP00000268489:p.Leu1206Val					ZFHX3_uc002fcl.2_Missense_Mutation_p.L292V	p.L1206V	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			6	4289	-		Ovarian(137;0.13)	1206					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.3616C>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534399	0.27475	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74002	-0.8;-0.76	5.86	4.9	0.64082	.	0.000000	0.45126	D	0.000390	T	0.58736	0.2143	L	0.27053	0.805	0.47949	D	0.999551	B	0.12013	0.005	B	0.08055	0.003	T	0.53201	-0.8472	10	0.21540	T	0.41	.	9.7125	0.40254	0.0703:0.2694:0.6603:0.0	.	1206	Q15911	ZFHX3_HUMAN	V	1206;292	ENSP00000268489:L1206V;ENSP00000438926:L292V	ENSP00000268489:L1206V	L	-	1	0	ZFHX3	71403352	1.000000	0.71417	0.954000	0.39281	0.997000	0.91878	4.515000	0.60489	1.611000	0.50210	0.650000	0.86243	CTC		PASS	0.532	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		48	137	48	137	---	---	---	---
CMIP	80790	broad.mit.edu	37	16	81641237	81641237	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr16:81641237G>T	ENST00000537098.3	+	2	438	c.366G>T	c.(364-366)tgG>tgT	p.W122C	CMIP_ENST00000539778.2_Missense_Mutation_p.W28C	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	122	PH.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.W122C(1)|p.W27C(1)		endometrium(5)|kidney(1)|lung(7)	13						TGCTGTCCTGGGAGAATGCCC	0.458																																						uc002fgp.2																			2	Substitution - Missense(2)		lung(2)		0						c.(364-366)TGG>TGT		c-Maf-inducing protein isoform C-mip							114.0	111.0	112.0					16																	81641237		1935	4162	6097	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81641237G>T	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.366G>T	16.37:g.81641237G>T	ENSP00000446100:p.Trp122Cys					CMIP_uc002fgq.1_Missense_Mutation_p.W28C|CMIP_uc010vnq.1_5'Flank	p.W122C	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN			2	438	+			88			PH.		Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.366G>T	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459643	0.63401	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040	T;T	0.08546	3.08;3.08	5.38	5.38	0.77491	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.64402	D	0.000003	T	0.20007	0.0481	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.99	T	0.01739	-1.1284	10	0.87932	D	0	.	19.1316	0.93410	0.0:0.0:1.0:0.0	.	28;122	Q8IY22-2;Q8IY22	.;CMIP_HUMAN	C	122;28;28	ENSP00000446100:W122C;ENSP00000440401:W28C	ENSP00000381120:W28C	W	+	3	0	CMIP	80198738	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.321000	0.96353	2.545000	0.85829	0.591000	0.81541	TGG		PASS	0.458	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		10	122	10	122	---	---	---	---
VPS53	55275	broad.mit.edu	37	17	613825	613825	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:613825C>A	ENST00000571805.1	-	2	252	c.116G>T	c.(115-117)cGa>cTa	p.R39L	VPS53_ENST00000291074.5_Missense_Mutation_p.R39L|VPS53_ENST00000437048.2_Missense_Mutation_p.R39L|VPS53_ENST00000401468.3_Missense_Mutation_p.R39L|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000574029.1_Missense_Mutation_p.R39L			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	39					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)		p.R39L(2)		breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GAAATCTGCTCGATCTAGAGG	0.368																																						uc002frn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(115-117)CGA>CTA		vacuolar protein sorting 53 isoform 2							128.0	120.0	123.0					17																	613825		2203	4300	6503	SO:0001583	missense	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:613825C>A		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.116G>T	17.37:g.613825C>A	ENSP00000459312:p.Arg39Leu					VPS53_uc010cjo.1_Missense_Mutation_p.R39L|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.R39L|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Missense_Mutation_p.R39L	p.R39L	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	2	263	-			39					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37	c.116G>T		.	.	.	.	.	.	.	.	.	.	C	14.69	2.611364	0.46631	.	.	ENSG00000141252	ENST00000437048;ENST00000291074;ENST00000401468;ENST00000389040	T;T;T;T	0.47869	1.46;1.43;0.83;1.48	4.83	2.81	0.32909	.	0.111999	0.56097	D	0.000021	T	0.46367	0.1389	M	0.72118	2.19	0.80722	D	1	B;B;B;B	0.31383	0.321;0.015;0.019;0.115	B;B;B;B	0.35859	0.212;0.052;0.111;0.149	T	0.35076	-0.9803	10	0.42905	T	0.14	-1.5027	8.2105	0.31481	0.0:0.7989:0.0:0.2011	.	39;39;39;39	E7EVT8;Q5VIR6-4;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	L	39	ENSP00000401435:R39L;ENSP00000291074:R39L;ENSP00000384294:R39L;ENSP00000373692:R39L	ENSP00000291074:R39L	R	-	2	0	VPS53	560575	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	3.820000	0.55693	0.429000	0.26202	0.561000	0.74099	CGA		PASS	0.368	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		4	48	4	48	---	---	---	---
SMYD4	114826	broad.mit.edu	37	17	1703966	1703966	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:1703966G>T	ENST00000305513.7	-	5	889	c.722C>A	c.(721-723)cCt>cAt	p.P241H		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	241	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.P241H(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						ACCTTTTAAAGGATCTACGCA	0.507																																						uc002ftm.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|kidney(2)	5						c.(721-723)CCT>CAT		SET and MYND domain containing 4							155.0	151.0	152.0					17																	1703966		2203	4300	6503	SO:0001583	missense	114826						zinc ion binding	g.chr17:1703966G>T	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.722C>A	17.37:g.1703966G>T	ENSP00000304360:p.Pro241His					SMYD4_uc002ftn.1_Missense_Mutation_p.P96H	p.P241H	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN			5	890	-			241					Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	ENST00000305513.7	37	c.722C>A	CCDS11013.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624626	0.46840	.	.	ENSG00000186532	ENST00000305513	D	0.81821	-1.54	5.99	5.02	0.67125	SET domain (1);	0.272375	0.42548	D	0.000699	D	0.87661	0.6233	M	0.77820	2.39	0.33303	D	0.565074	D	0.89917	1.0	D	0.66847	0.947	D	0.90629	0.4565	10	0.87932	D	0	-17.448	10.3319	0.43827	0.0692:0.0:0.7945:0.1363	.	241	Q8IYR2	SMYD4_HUMAN	H	241	ENSP00000304360:P241H	ENSP00000304360:P241H	P	-	2	0	SMYD4	1650716	0.992000	0.36948	0.996000	0.52242	0.277000	0.26821	2.355000	0.44107	2.840000	0.97914	0.655000	0.94253	CCT		PASS	0.507	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		6	81	6	81	---	---	---	---
GABARAP	11337	broad.mit.edu	37	17	7144663	7144663	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:7144663G>T	ENST00000302386.5	-	3	725	c.286C>A	c.(286-288)Cag>Aag	p.Q96K	PHF23_ENST00000571362.1_5'Flank|GABARAP_ENST00000573928.1_Missense_Mutation_p.Q96K|GABARAP_ENST00000571253.1_Missense_Mutation_p.Q6K|PHF23_ENST00000576955.1_5'Flank|GABARAP_ENST00000577035.1_Missense_Mutation_p.Q6K|GABARAP_ENST00000571129.1_Missense_Mutation_p.Q6K|CTD-2545G14.7_ENST00000570760.2_3'UTR|PHF23_ENST00000454255.2_5'Flank|PHF23_ENST00000320316.3_5'Flank	NM_007278.1	NP_009209.1	O95166	GBRAP_HUMAN	GABA(A) receptor-associated protein	96	Interaction with GPHN. {ECO:0000250}.				autophagy (GO:0006914)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|microtubule cytoskeleton organization (GO:0000226)|protein targeting (GO:0006605)|synaptic transmission (GO:0007268)	actin cytoskeleton (GO:0015629)|autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)|cell body (GO:0044297)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-tubulin binding (GO:0048487)|GABA receptor binding (GO:0050811)	p.Q96K(1)		breast(1)|lung(2)	3						CACCATACCTGGTACAGCTGA	0.488																																						uc002gfb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(286-288)CAG>AAG		GABA(A) receptor-associated protein							246.0	264.0	258.0					17																	7144663		2203	4300	6503	SO:0001583	missense	11337				protein targeting|synaptic transmission	autophagic vacuole membrane|Golgi membrane|microtubule|plasma membrane	beta-tubulin binding|GABA receptor binding	g.chr17:7144663G>T	AF161586	CCDS11092.1	17p13.1	2014-02-12			ENSG00000170296	ENSG00000170296			4067	protein-coding gene	gene with protein product		605125				9892355	Standard	NM_007278		Approved	MM46, ATG8A	uc002gfb.3	O95166	OTTHUMG00000102156	ENST00000302386.5:c.286C>A	17.37:g.7144663G>T	ENSP00000306866:p.Gln96Lys					PHF23_uc002gfa.2_5'Flank|PHF23_uc010vtt.1_5'Flank|PHF23_uc010cma.2_5'Flank	p.Q96K	NM_007278	NP_009209	O95166	GBRAP_HUMAN			3	390	-			96			Interaction with GPHN (By similarity).			Missense_Mutation	SNP	ENST00000302386.5	37	c.286C>A	CCDS11092.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262986	0.59431	.	.	ENSG00000170296	ENST00000302386	T	0.42900	0.96	4.69	4.69	0.59074	.	0.066904	0.64402	D	0.000009	T	0.39462	0.1079	L	0.52206	1.635	0.58432	D	0.999999	B	0.20052	0.041	B	0.28305	0.088	T	0.34254	-0.9836	10	0.54805	T	0.06	-5.2794	11.071	0.48004	0.0:0.1884:0.8116:0.0	.	96	O95166	GBRAP_HUMAN	K	96	ENSP00000306866:Q96K	ENSP00000306866:Q96K	Q	-	1	0	GABARAP	7085387	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	2.125000	0.42016	2.145000	0.66743	0.591000	0.81541	CAG		PASS	0.488	GABARAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220000.2			10	339	10	339	---	---	---	---
EIF4A1	1973	broad.mit.edu	37	17	7481668	7481668	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:7481668G>T	ENST00000293831.8	+	11	1101	c.1085G>T	c.(1084-1086)cGa>cTa	p.R362L	CD68_ENST00000250092.6_5'Flank|EIF4A1_ENST00000582746.1_Silent_p.S335S|SNORA67_ENST00000384423.1_RNA|SNORD10_ENST00000459579.1_RNA|EIF4A1_ENST00000577269.1_Silent_p.S341S|SENP3-EIF4A1_ENST00000579777.1_RNA|CD68_ENST00000380498.6_5'Flank	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	362	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|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)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.R362L(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						AGAATCGGTCGAGGTGGACGG	0.507																																					Melanoma(120;278 1668 15796 27423 46368)	uc002gho.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1084-1086)CGA>CTA		eukaryotic translation initiation factor 4A							190.0	170.0	176.0					17																	7481668		2203	4300	6503	SO:0001583	missense	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7481668G>T	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.1085G>T	17.37:g.7481668G>T	ENSP00000293831:p.Arg362Leu					EIF4A1_uc002ghr.1_Silent_p.S341S|EIF4A1_uc002ghq.1_Silent_p.S335S|EIF4A1_uc002ghp.1_Missense_Mutation_p.R362L|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank	p.R362L	NM_001416	NP_001407	P60842	IF4A1_HUMAN			19	2410	+			362			Helicase C-terminal.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	ENST00000293831.8	37	c.1085G>T	CCDS11113.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268715	0.80469	.	.	ENSG00000161960	ENST00000293831	D	0.99143	-5.48	4.85	4.85	0.62838	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99254	0.9740	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99157	1.0860	9	0.87932	D	0	-26.6666	15.8234	0.78676	0.0:0.0:1.0:0.0	.	362	P60842	IF4A1_HUMAN	L	362	ENSP00000293831:R362L	ENSP00000293831:R362L	R	+	2	0	EIF4A1	7422392	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.386000	0.97228	2.401000	0.81631	0.563000	0.77884	CGA		PASS	0.507	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		4	58	4	58	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579494	7579494	+	Nonsense_Mutation	SNP	T	T	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:7579494T>A	ENST00000269305.4	-	4	382	c.193A>T	c.(193-195)Aga>Tga	p.R65*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R65*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R65*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R65*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R65*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R65*|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	65	Interaction with HRMT1L2.		R -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R65*(11)|p.0?(8)|p.R65fs*84(3)|p.G59fs*23(3)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGGCATTCTGGGAGCTTCA	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		31	Substitution - Nonsense(11)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(3)|Deletion - In frame(2)	p.R65*(8)|p.0?(7)|p.G59fs*23(3)|p.264_265insSSGNL(1)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1)	lung(7)|urinary_tract(5)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|pancreas(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(193-195)AGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							125.0	130.0	128.0					17																	7579494		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579494T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.193A>T	17.37:g.7579494T>A	ENSP00000269305:p.Arg65*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.R65*|TP53_uc002gih.2_Nonsense_Mutation_p.R65*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.R65*|TP53_uc010cni.1_Nonsense_Mutation_p.R65*|TP53_uc002gij.2_Nonsense_Mutation_p.R65*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.R26*|TP53_uc010cnk.1_Nonsense_Mutation_p.R80*	p.R65*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	387	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	65		R -> T (in a sporadic cancer; somatic mutation).	Interaction with HRMT1L2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.193A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.039059	0.55003	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.84	-2.61	0.06171	.	1.821500	0.02314	N	0.072344	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	5.1499	6.7205	0.23328	0.0:0.3628:0.4224:0.2149	.	.	.	.	X	65	.	ENSP00000269305:R65X	R	-	1	2	TP53	7520219	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.045000	0.14013	-0.480000	0.06803	0.459000	0.35465	AGA		PASS	0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		55	75	55	75	---	---	---	---
PIK3R6	146850	broad.mit.edu	37	17	8738701	8738701	+	Silent	SNP	C	C	T	rs369604200		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:8738701C>T	ENST00000311434.9	-	8	773	c.534G>A	c.(532-534)gcG>gcA	p.A178A	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	178					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.A259A(1)									GCGCCTGGGCCGCCTCGATCT	0.652																																						uc002glq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(532-534)GCG>GCA		phosphoinositide-3-kinase, regulatory subunit 6		C		0,4184		0,0,2092	26.0	29.0	28.0		534	-10.5	0.0	17		28	3,8403		0,3,4200	no	coding-synonymous	PIK3R6	NM_001010855.2		0,3,6292	TT,TC,CC		0.0357,0.0,0.0238		178/755	8738701	3,12587	2092	4203	6295	SO:0001819	synonymous_variant	146850				platelet activation	cytosol		g.chr17:8738701C>T	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.534G>A	17.37:g.8738701C>T						PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	p.A178A	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN			8	774	-			178					Q658R3	Silent	SNP	ENST00000311434.9	37	c.534G>A																																																																																					PASS	0.652	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		8	17	8	17	---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10542913	10542913	+	Silent	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:10542913G>T	ENST00000583535.1	-	23	2976	c.2889C>A	c.(2887-2889)gcC>gcA	p.A963A	MYH3_ENST00000226209.7_Silent_p.A963A	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	963					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.A963A(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCTCAACCTTGGCCAGGGTCA	0.433																																						uc002gmq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(2887-2889)GCC>GCA		myosin, heavy chain 3, skeletal muscle,							293.0	276.0	281.0					17																	10542913		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10542913G>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2889C>A	17.37:g.10542913G>T							p.A963A	NM_002470	NP_002461	P11055	MYH3_HUMAN			22	2966	-			963			Potential.		Q15492	Silent	SNP	ENST00000583535.1	37	c.2889C>A	CCDS11157.1																																																																																				PASS	0.433	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		40	78	40	78	---	---	---	---
ELAC2	60528	broad.mit.edu	37	17	12897091	12897091	+	Silent	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:12897091C>T	ENST00000338034.4	-	23	2405	c.2166G>A	c.(2164-2166)ctG>ctA	p.L722L	ELAC2_ENST00000395962.2_Silent_p.L703L|ELAC2_ENST00000426905.3_Silent_p.L682L	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	722					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L722L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						TGAAGTGGTTCAGCATAATGA	0.547																																						uc002gnz.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2164-2166)CTG>CTA		elaC homolog 2 isoform 1							187.0	134.0	152.0					17																	12897091		2203	4300	6503	SO:0001819	synonymous_variant	60528	Hereditary_Prostate_Cancer			tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12897091C>T	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.2166G>A	17.37:g.12897091C>T						ELAC2_uc002gnu.3_Silent_p.L119L|ELAC2_uc002gnv.3_Silent_p.L350L|ELAC2_uc002gnw.3_Silent_p.L378L|ELAC2_uc002gnx.3_Silent_p.L482L|ELAC2_uc010vvo.1_Silent_p.L520L|ELAC2_uc010vvp.1_Silent_p.L703L|ELAC2_uc010vvq.1_Silent_p.L721L|ELAC2_uc010vvr.1_Silent_p.L682L	p.L722L	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN			23	2261	-			722					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Silent	SNP	ENST00000338034.4	37	c.2166G>A	CCDS11164.1																																																																																				PASS	0.547	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			18	24	18	24	---	---	---	---
FLCN	201163	broad.mit.edu	37	17	17127237	17127237	+	Splice_Site	SNP	T	T	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:17127237T>C	ENST00000285071.4	-	6	1071	c.617A>G	c.(616-618)aAg>aGg	p.K206R	RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Splice_Site_p.K206R	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	206					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)	p.K206R(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGAATTCACCTTGAGCGCCTT	0.622									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													uc002gra.3																			2	Substitution - Missense(2)		lung(2)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						c.(616-618)AAG>AGG		folliculin isoform 1							39.0	34.0	36.0					17																	17127237		2203	4300	6503	SO:0001630	splice_region_variant	201163	Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17127237T>C	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.618+1A>G	17.37:g.17127237T>C						PLD6_uc010cpn.2_Intron|FLCN_uc002grb.3_Missense_Mutation_p.K206R	p.K206R	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN			6	1121	-			206					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	ENST00000285071.4	37	c.617A>G	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006133	0.74932	.	.	ENSG00000154803	ENST00000285071;ENST00000389169;ENST00000417064	D;D;D	0.88896	-2.44;-2.44;-1.89	5.74	4.67	0.58626	.	0.040777	0.85682	N	0.000000	D	0.83977	0.5371	L	0.28556	0.865	0.58432	D	0.999996	B;P	0.48503	0.006;0.911	B;P	0.45753	0.009;0.492	T	0.81824	-0.0755	10	0.35671	T	0.21	-17.3618	11.0655	0.47972	0.0:0.0722:0.0:0.9278	.	206;206	Q8NFG4-2;Q8NFG4	.;FLCN_HUMAN	R	206;206;153	ENSP00000285071:K206R;ENSP00000373821:K206R;ENSP00000410410:K153R	ENSP00000285071:K206R	K	-	2	0	FLCN	17067962	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	4.698000	0.61789	1.121000	0.41925	0.459000	0.35465	AAG		PASS	0.622	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606	Missense_Mutation	8	5	8	5	---	---	---	---
SHMT1	6470	broad.mit.edu	37	17	18250933	18250933	+	Silent	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:18250933C>A	ENST00000316694.3	-	5	530	c.396G>T	c.(394-396)gtG>gtT	p.V132V	SHMT1_ENST00000354098.3_Silent_p.V132V|SHMT1_ENST00000352886.6_Silent_p.V132V|SHMT1_ENST00000539052.1_5'UTR	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	132					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.V132V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	CATGGGGTTCCACCAGGGCAG	0.552																																						uc002gta.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(394-396)GTG>GTT		serine hydroxymethyltransferase 1 (soluble)	Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						81.0	83.0	82.0					17																	18250933		2203	4300	6503	SO:0001819	synonymous_variant	6470				carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr17:18250933C>A		CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"""cytoplasmic serine hydroxymethyltransferase"", ""14 kDa protein"""	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.396G>T	17.37:g.18250933C>A						SHMT1_uc002gtb.2_Silent_p.V132V|SHMT1_uc010cqb.2_Silent_p.V132V|SHMT1_uc010vxt.1_5'UTR|SHMT1_uc002gtd.1_Silent_p.V132V|SHMT1_uc010vxu.1_Silent_p.V132V	p.V132V	NM_004169	NP_004160	P34896	GLYC_HUMAN			5	586	-			132					B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Silent	SNP	ENST00000316694.3	37	c.396G>T	CCDS11196.1																																																																																				PASS	0.552	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		31	22	31	22	---	---	---	---
NEK8	284086	broad.mit.edu	37	17	27064326	27064326	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:27064326C>G	ENST00000268766.6	+	5	655	c.621C>G	c.(619-621)aaC>aaG	p.N207K	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.N207K(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CTTCACAGAACTTGCCAGCAC	0.577																																					NSCLC(6;19 293 14866 25253 49845)	uc002hcp.2																			1	Substitution - Missense(1)		lung(1)	stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6						c.(619-621)AAC>AAG		NIMA-related kinase 8							33.0	30.0	31.0					17																	27064326		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27064326C>G	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.621C>G	17.37:g.27064326C>G	ENSP00000268766:p.Asn207Lys						p.N207K	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN			5	621	+	Lung NSC(42;0.0158)		207			Protein kinase.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.621C>G	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	c	17.56	3.421103	0.62622	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.26518	1.73;1.73	5.75	3.75	0.43078	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	0.85682	D	0.000000	T	0.38639	0.1048	L	0.45285	1.41	0.80722	D	1	D	0.58268	0.982	D	0.64595	0.927	T	0.21314	-1.0249	10	0.87932	D	0	.	11.1622	0.48522	0.0:0.794:0.0:0.206	.	207	Q86SG6	NEK8_HUMAN	K	207	ENSP00000465859:N207K;ENSP00000268766:N207K	ENSP00000268766:N207K	N	+	3	2	NEK8	24088453	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	1.056000	0.30480	1.433000	0.47394	0.558000	0.71614	AAC		PASS	0.577	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			4	6	4	6	---	---	---	---
SLC35G3	146861	broad.mit.edu	37	17	33520358	33520358	+	Silent	SNP	A	A	G	rs74740601		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:33520358A>G	ENST00000297307.5	-	1	1054	c.969T>C	c.(967-969)atT>atC	p.I323I	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	323	EamA 2.					integral component of membrane (GO:0016021)		p.I323I(1)									TCTGGGCTGTAATGATGGCAA	0.547																																						uc002hjd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(967-969)ATT>ATC		acyl-malonyl condensing enzyme 1																																				SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520358A>G	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.969T>C	17.37:g.33520358A>G							p.I323I	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	1055	-			323			DUF6 2.|Helical; (Potential).		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.969T>C	CCDS11293.1																																																																																				PASS	0.547	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		3	72	3	72	---	---	---	---
SRCIN1	80725	broad.mit.edu	37	17	36734771	36734771	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:36734771C>A	ENST00000264659.7	-	2	520	c.296G>T	c.(295-297)cGa>cTa	p.R99L	SRCIN1_ENST00000578925.1_Missense_Mutation_p.R99L	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	0					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)	p.R99L(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CTGCTGGCCTCGCAGGGCCAG	0.706																																						uc002hqd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(295-297)CGA>CTA		SNAP25-interacting protein							31.0	35.0	33.0					17																	36734771		2033	4190	6223	SO:0001583	missense	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36734771C>A		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.296G>T	17.37:g.36734771C>A	ENSP00000264659:p.Arg99Leu					SRCIN1_uc002hqh.1_Missense_Mutation_p.R133L	p.R99L	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN			2	521	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.296G>T	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059833	0.36373	.	.	ENSG00000017373	ENST00000264659	T	0.67698	-0.28	4.94	4.94	0.65067	.	0.241881	0.31784	N	0.007065	T	0.54447	0.1859	.	.	.	0.40215	D	0.977671	B	0.24186	0.099	B	0.22880	0.042	T	0.51826	-0.8656	9	0.22109	T	0.4	-11.1788	15.6598	0.77178	0.0:1.0:0.0:0.0	.	99	Q9C0H9-5	.	L	99	ENSP00000264659:R99L	ENSP00000264659:R99L	R	-	2	0	SRCIN1	33988297	0.998000	0.40836	0.995000	0.50966	0.998000	0.95712	6.264000	0.72527	2.277000	0.76020	0.561000	0.74099	CGA		PASS	0.706	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		11	11	11	11	---	---	---	---
KPNB1	3837	broad.mit.edu	37	17	45755688	45755688	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:45755688G>T	ENST00000290158.4	+	19	2669	c.2262G>T	c.(2260-2262)atG>atT	p.M754I	KPNB1_ENST00000535458.2_Missense_Mutation_p.M609I|KPNB1_ENST00000540627.1_Missense_Mutation_p.M609I|KPNB1_ENST00000537679.1_Missense_Mutation_p.M538I	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	754					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.M754I(1)		breast(1)|ovary(1)|pancreas(1)|skin(1)	4						ACTATGACATGGTGGATTATC	0.438																																						uc002ilt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2260-2262)ATG>ATT		karyopherin beta 1							122.0	105.0	110.0					17																	45755688		2203	4300	6503	SO:0001583	missense	3837				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	g.chr17:45755688G>T	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.2262G>T	17.37:g.45755688G>T	ENSP00000290158:p.Met754Ile					KPNB1_uc010wkw.1_Missense_Mutation_p.M609I|KPNB1_uc010wkx.1_Missense_Mutation_p.M538I	p.M754I	NM_002265	NP_002256	Q14974	IMB1_HUMAN			19	2598	+			754					B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	ENST00000290158.4	37	c.2262G>T	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984242	0.53827	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.76	5.76	0.90799	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	M	0.69823	2.125	0.37918	D	0.931594	B;B	0.18166	0.026;0.001	B;B	0.09377	0.004;0.001	T	0.63341	-0.6659	9	0.28530	T	0.3	-10.1667	19.9705	0.97284	0.0:0.0:1.0:0.0	.	538;754	F5H4R7;Q14974	.;IMB1_HUMAN	I	609;754;609;538	ENSP00000438253:M609I;ENSP00000290158:M754I;ENSP00000438964:M609I;ENSP00000445006:M538I	ENSP00000290158:M754I	M	+	3	0	KPNB1	43110687	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.841000	0.99482	2.728000	0.93425	0.655000	0.94253	ATG		PASS	0.438	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265		6	54	6	54	---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48278790	48278790	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:48278790C>T	ENST00000225964.5	-	1	203	c.85G>A	c.(85-87)Gag>Aag	p.E29K		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	29					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.E29K(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TCTTGGCCCTCGACTTGGCCT	0.587			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															uc002iqm.2				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	1	Substitution - Missense(1)		lung(1)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382						c.(85-87)GAG>AAG		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						84.0	73.0	77.0					17																	48278790		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48278790C>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.85G>A	17.37:g.48278790C>T	ENSP00000225964:p.Glu29Lys						p.E29K	NM_000088	NP_000079	P02452	CO1A1_HUMAN			1	211	-			29					O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.85G>A	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895016	0.52121	.	.	ENSG00000108821	ENST00000225964	D	0.89196	-2.48	3.12	2.14	0.27477	.	0.328967	0.18817	U	0.130345	T	0.70378	0.3217	N	0.08118	0	0.24969	N	0.991676	P	0.35348	0.496	B	0.15484	0.013	T	0.62177	-0.6909	10	0.31617	T	0.26	.	8.4035	0.32601	0.0:0.8766:0.0:0.1234	.	29	P02452	CO1A1_HUMAN	K	29	ENSP00000225964:E29K	ENSP00000225964:E29K	E	-	1	0	COL1A1	45633789	0.671000	0.27521	0.739000	0.30968	0.943000	0.58893	1.090000	0.30902	0.895000	0.36342	0.313000	0.20887	GAG		PASS	0.587	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			8	22	8	22	---	---	---	---
CA10	56934	broad.mit.edu	37	17	50008392	50008392	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:50008392G>T	ENST00000285273.4	-	4	1348	c.237C>A	c.(235-237)gaC>gaA	p.D79E	CA10_ENST00000451037.2_Missense_Mutation_p.D79E|CA10_ENST00000442502.2_Missense_Mutation_p.D79E|CA10_ENST00000570565.1_Missense_Mutation_p.D4E|CA10_ENST00000340813.6_Missense_Mutation_p.D85E	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	79					brain development (GO:0007420)			p.D79E(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TCAGAAAGGGGTCGAAGATCA	0.498																																						uc002itw.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(235-237)GAC>GAA		carbonic anhydrase X							288.0	272.0	277.0					17																	50008392		2203	4300	6503	SO:0001583	missense	56934				brain development			g.chr17:50008392G>T	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.237C>A	17.37:g.50008392G>T	ENSP00000285273:p.Asp79Glu					CA10_uc002itv.3_Missense_Mutation_p.D85E|CA10_uc002itx.3_Missense_Mutation_p.D79E|CA10_uc002ity.3_Missense_Mutation_p.D79E|CA10_uc002itz.2_Missense_Mutation_p.D79E	p.D79E	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		3	1223	-			79					B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	c.237C>A	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525189	0.85600	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.93	3.96	0.45880	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.80003	0.4544	M	0.72624	2.21	0.46654	D	0.999141	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78160	-0.2312	9	.	.	.	.	7.3538	0.26706	0.3261:0.0:0.6739:0.0	.	79;85	Q9NS85;Q68D28	CAH10_HUMAN;.	E	79;79;79;85	ENSP00000390666:D79E;ENSP00000285273:D79E;ENSP00000405388:D79E;ENSP00000340363:D85E	.	D	-	3	2	CA10	47363391	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.947000	0.29082	0.863000	0.35553	0.655000	0.94253	GAC		PASS	0.498	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		32	72	32	72	---	---	---	---
HLF	3131	broad.mit.edu	37	17	53392768	53392768	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:53392768T>C	ENST00000226067.5	+	3	1105	c.632T>C	c.(631-633)aTc>aCc	p.I211T	HLF_ENST00000430986.2_Missense_Mutation_p.I126T|HLF_ENST00000575345.1_Missense_Mutation_p.I126T|HLF_ENST00000573945.1_Missense_Mutation_p.I126T	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	211					multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I211T(1)		large_intestine(1)|ovary(2)	3						CAGCCCATGATCAAGAAAGCT	0.493			T	TCF3	ALL																																	uc002iug.1				Dom	yes		17	17q22	3131	T	hepatic leukemia factor			L	TCF3		ALL		1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(631-633)ATC>ACC		hepatic leukemia factor							97.0	90.0	92.0					17																	53392768		2203	4300	6503	SO:0001583	missense	3131				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:53392768T>C		CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.632T>C	17.37:g.53392768T>C	ENSP00000226067:p.Ile211Thr					HLF_uc010dce.1_Missense_Mutation_p.I126T|HLF_uc002iuh.2_Missense_Mutation_p.I126T|HLF_uc010wni.1_Missense_Mutation_p.I158T	p.I211T	NM_002126	NP_002117	Q16534	HLF_HUMAN			3	1157	+			211					A8K1X8|Q6FHS9	Missense_Mutation	SNP	ENST00000226067.5	37	c.632T>C	CCDS11585.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.514691	0.85389	.	.	ENSG00000108924	ENST00000226067;ENST00000430986	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.74481	0.3722	L	0.55213	1.73	0.80722	D	1	P;D	0.76494	0.614;0.999	B;D	0.78314	0.418;0.991	T	0.74725	-0.3568	9	0.45353	T	0.12	.	14.79	0.69833	0.0:0.0:0.0:1.0	.	159;211	B4DIQ5;Q16534	.;HLF_HUMAN	T	211;126	.	ENSP00000226067:I211T	I	+	2	0	HLF	50747767	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.040000	0.89188	2.092000	0.63282	0.533000	0.62120	ATC		PASS	0.493	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126		4	41	4	41	---	---	---	---
APPBP2	10513	broad.mit.edu	37	17	58538126	58538126	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:58538126G>A	ENST00000083182.3	-	9	1246	c.959C>T	c.(958-960)tCa>tTa	p.S320L	APPBP2_ENST00000592995.1_5'UTR	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	320					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)	p.S320L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			ACCAAACACTGACTGTCTAAT	0.358																																						uc002iys.1																			1	Substitution - Missense(1)		lung(1)		0						c.(958-960)TCA>TTA		amyloid beta precursor protein-binding protein							82.0	77.0	78.0					17																	58538126		2203	4300	6503	SO:0001583	missense	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58538126G>A	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.959C>T	17.37:g.58538126G>A	ENSP00000083182:p.Ser320Leu					APPBP2_uc010ddl.1_Missense_Mutation_p.S249L	p.S320L	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		9	1247	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		320			TPR 4.		A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	ENST00000083182.3	37	c.959C>T	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872205	0.72180	.	.	ENSG00000062725	ENST00000083182	T	0.78481	-1.18	5.93	5.93	0.95920	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.80954	0.4723	L	0.29908	0.895	0.80722	D	1	P	0.40431	0.717	P	0.55303	0.773	T	0.75725	-0.3217	10	0.27785	T	0.31	-8.1044	20.3539	0.98825	0.0:0.0:1.0:0.0	.	320	Q92624	APBP2_HUMAN	L	320	ENSP00000083182:S320L	ENSP00000083182:S320L	S	-	2	0	APPBP2	55892908	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.434000	0.97515	2.826000	0.97356	0.655000	0.94253	TCA		PASS	0.358	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		8	47	8	47	---	---	---	---
GPRC5C	55890	broad.mit.edu	37	17	72443069	72443069	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:72443069G>T	ENST00000392627.1	+	4	2489	c.1363G>T	c.(1363-1365)Gct>Tct	p.A455S	GPRC5C_ENST00000392629.2_Missense_Mutation_p.A422S|GPRC5C_ENST00000481232.1_3'UTR|GPRC5C_ENST00000342648.5_Missense_Mutation_p.A95S|GPRC5C_ENST00000582873.1_3'UTR	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	410					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)	p.A422S(1)|p.A455S(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GACCCTGCGGGCTGAAGACAT	0.607																																						uc002jks.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1)	5						c.(1228-1230)GCT>TCT		G protein-coupled receptor family C, group 5,							72.0	74.0	73.0					17																	72443069		2203	4300	6503	SO:0001583	missense	55890					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72443069G>T	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.1363G>T	17.37:g.72443069G>T	ENSP00000376403:p.Ala455Ser					GPRC5C_uc002jkp.2_Missense_Mutation_p.A455S|GPRC5C_uc002jkq.2_3'UTR|GPRC5C_uc002jkr.2_Missense_Mutation_p.A422S|GPRC5C_uc002jkt.2_Missense_Mutation_p.A410S|GPRC5C_uc002jku.2_Missense_Mutation_p.A165S	p.A410S	NM_018653	NP_061123	Q9NQ84	GPC5C_HUMAN			3	1267	+			410			Cytoplasmic (Potential).		B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000392627.1	37	c.1228G>T	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776311	0.70107	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T	0.21543	2.0	5.48	4.51	0.55191	.	0.648332	0.15097	N	0.280768	T	0.40498	0.1119	L	0.50333	1.59	0.41829	D	0.99006	D;P;P;P	0.76494	0.999;0.894;0.615;0.734	D;B;B;B	0.66196	0.942;0.437;0.069;0.146	T	0.22941	-1.0202	10	0.66056	D	0.02	-26.417	15.2287	0.73369	0.0:0.1409:0.8591:0.0	.	121;410;410;422	Q9NXI0;A8MXZ4;Q9NQ84;Q9NQ84-2	.;.;GPC5C_HUMAN;.	S	410;455;121;422;410	ENSP00000376405:A422S	ENSP00000262616:A121S	A	+	1	0	GPRC5C	69954664	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	6.832000	0.75329	1.319000	0.45190	0.561000	0.74099	GCT		PASS	0.607	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			8	45	8	45	---	---	---	---
GRIN2C	2905	broad.mit.edu	37	17	72840421	72840421	+	Silent	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:72840421G>A	ENST00000293190.5	-	12	2723	c.2577C>T	c.(2575-2577)ttC>ttT	p.F859F	GRIN2C_ENST00000347612.4_Silent_p.F859F	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	859					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.F859F(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCACCCTGCTGAAAGCCAGCA	0.617																																						uc002jlt.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)	4						c.(2575-2577)TTC>TTT		N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						50.0	49.0	49.0					17																	72840421		2203	4300	6503	SO:0001819	synonymous_variant	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72840421G>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2577C>T	17.37:g.72840421G>A						GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.F859F	p.F859F	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			12	2733	-	all_lung(278;0.172)|Lung NSC(278;0.207)		859			Cytoplasmic (Potential).		B2RTT1	Silent	SNP	ENST00000293190.5	37	c.2577C>T	CCDS32724.1																																																																																				PASS	0.617	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			10	40	10	40	---	---	---	---
UBE2O	63893	broad.mit.edu	37	17	74394450	74394450	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:74394450C>A	ENST00000319380.7	-	12	1975	c.1911G>T	c.(1909-1911)gaG>gaT	p.E637D	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	637					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.E637D(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TCACATCTTCCTCTTCTCCAA	0.547											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jrm.3																			2	Substitution - Missense(2)		lung(2)	breast(2)|skin(2)|lung(1)	5						c.(1909-1911)GAG>GAT		ubiquitin-conjugating enzyme E2O							374.0	341.0	353.0					17																	74394450		2203	4300	6503	SO:0001583	missense	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74394450C>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1911G>T	17.37:g.74394450C>A	ENSP00000323687:p.Glu637Asp		OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1152	UBE2O_uc002jrn.3_Missense_Mutation_p.E637D|UBE2O_uc002jrl.3_Missense_Mutation_p.E240D	p.E637D	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN			12	1976	-			637					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	c.1911G>T	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513874	0.64522	.	.	ENSG00000175931	ENST00000319380	T	0.76839	-1.05	5.6	2.09	0.27110	.	0.000000	0.85682	D	0.000000	D	0.85053	0.5609	M	0.74467	2.265	0.41995	D	0.990864	D	0.63880	0.993	D	0.70016	0.967	D	0.83812	0.0242	10	0.35671	T	0.21	-37.5998	12.3895	0.55350	0.0:0.7289:0.0:0.2711	.	637	Q9C0C9	UBE2O_HUMAN	D	637	ENSP00000323687:E637D	ENSP00000323687:E637D	E	-	3	2	UBE2O	71906045	1.000000	0.71417	0.998000	0.56505	0.794000	0.44872	1.719000	0.38011	0.746000	0.32786	-0.251000	0.11542	GAG		PASS	0.547	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		12	420	12	420	---	---	---	---
ENGASE	64772	broad.mit.edu	37	17	77077136	77077136	+	Missense_Mutation	SNP	G	G	A	rs547678422	byFrequency	TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:77077136G>A	ENST00000579016.1	+	6	853	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	ENGASE_ENST00000539857.2_Missense_Mutation_p.E99K	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	285						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)	p.E285K(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						ATGGCAAGACGAACTCAACCA	0.652													G|||	2	0.000399361	0.0015	0.0	5008	,	,		11637	0.0		0.0	False		,,,				2504	0.0					uc002jwv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(853-855)GAA>AAA		endo-beta-N-acetylglucosaminidase							41.0	42.0	41.0					17																	77077136		2163	4260	6423	SO:0001583	missense	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77077136G>A	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.853G>A	17.37:g.77077136G>A	ENSP00000462333:p.Glu285Lys					ENGASE_uc002jwu.1_Missense_Mutation_p.E285K|ENGASE_uc010wtz.1_Missense_Mutation_p.E99K|ENGASE_uc002jww.2_5'UTR	p.E285K	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN			6	861	+			285					Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.853G>A	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650214	0.67472	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	5.0	5.0	0.66597	Glycoside hydrolase, family 85 (1);	0.000000	0.85682	D	0.000000	T	0.79598	0.4473	M	0.81497	2.545	0.80722	D	1	D;D;P	0.89917	1.0;0.994;0.943	D;P;P	0.91635	0.999;0.876;0.576	T	0.77900	-0.2415	9	0.29301	T	0.29	-11.4684	17.4301	0.87537	0.0:0.0:1.0:0.0	.	99;285;285	B4DVK0;Q8NFI3;Q8NFI3-3	.;ENASE_HUMAN;.	K	285	.	ENSP00000308158:E285K	E	+	1	0	ENGASE	74588731	1.000000	0.71417	0.057000	0.19452	0.196000	0.23810	8.607000	0.90891	2.479000	0.83701	0.655000	0.94253	GAA		PASS	0.652	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		5	11	5	11	---	---	---	---
ENPP7	339221	broad.mit.edu	37	17	77707323	77707323	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:77707323C>G	ENST00000328313.5	+	2	492	c.271C>G	c.(271-273)Cac>Gac	p.H91D		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7									p.H91D(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TATCGAGAACCACGGGGTGGT	0.617																																						uc002jxa.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(271-273)CAC>GAC		ectonucleotide pyrophosphatase/phosphodiesterase							100.0	95.0	96.0					17																	77707323		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77707323C>G	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.271C>G	17.37:g.77707323C>G	ENSP00000332656:p.His91Asp						p.H91D	NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		2	291	+			91						Missense_Mutation	SNP	ENST00000328313.5	37	c.271C>G	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679709	0.88542	.	.	ENSG00000182156	ENST00000328313	D	0.83591	-1.74	4.76	4.76	0.60689	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.94059	0.8096	H	0.96239	3.79	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.96153	0.9109	10	0.87932	D	0	-38.7204	17.7516	0.88436	0.0:1.0:0.0:0.0	.	91	Q6UWV6	ENPP7_HUMAN	D	91	ENSP00000332656:H91D	ENSP00000332656:H91D	H	+	1	0	ENPP7	75321918	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.577000	0.82486	2.183000	0.69458	0.491000	0.48974	CAC		PASS	0.617	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		33	98	33	98	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78282825	78282825	+	Nonsense_Mutation	SNP	G	G	T	rs377041958		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr17:78282825G>T	ENST00000582970.1	+	14	2652	c.2509G>T	c.(2509-2511)Gag>Tag	p.E837*	RNF213_ENST00000456466.1_Nonsense_Mutation_p.E837*|RNF213_ENST00000319921.4_Nonsense_Mutation_p.E837*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.E886*	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	837					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E837*(4)|p.E886*(2)|p.E837K(2)|p.E886K(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGGATTCCCGAGGAGGCCTT	0.478																																						uc002jyf.2																			9	Substitution - Nonsense(6)|Substitution - Missense(3)		lung(9)								c.(2509-2511)GAG>TAG		hypothetical protein LOC57714							116.0	111.0	113.0					17																	78282825		2203	4300	6503	SO:0001587	stop_gained	0							g.chr17:78282825G>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2509G>T	17.37:g.78282825G>T	ENSP00000464087:p.Glu837*					uc002jyg.1_Nonsense_Mutation_p.E568*	p.E837*	NM_020954	NP_066005					14	2652	+								C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Nonsense_Mutation	SNP	ENST00000582970.1	37	c.2509G>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	37	6.620083	0.97709	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	.	.	.	4.96	-4.46	0.03536	.	0.905605	0.09401	N	0.807232	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-18.0606	10.3441	0.43895	0.1624:0.6357:0.2019:0.0	.	.	.	.	X	837;886;837;837	.	ENSP00000324392:E837X	E	+	1	0	RNF213	75897420	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.171000	0.09883	-0.464000	0.06963	-0.885000	0.02943	GAG		PASS	0.478	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		7	94	7	94	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3129295	3129295	+	Missense_Mutation	SNP	G	G	T	rs546136269	byFrequency	TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr18:3129295G>T	ENST00000356443.4	-	18	3062	c.2729C>A	c.(2728-2730)cCa>cAa	p.P910Q	MYOM1_ENST00000261606.7_Intron|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000400569.3_Missense_Mutation_p.P910Q	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	910					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.P910Q(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTCTGTGGTGGCGGGGTAAG	0.488											OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002klp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2728-2730)CCA>CAA		myomesin 1 isoform a							109.0	115.0	113.0					18																	3129295		1917	4111	6028	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3129295G>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2729C>A	18.37:g.3129295G>T	ENSP00000348821:p.Pro910Gln		OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	MYOM1_uc002klq.2_Intron	p.P910Q	NM_003803	NP_003794	P52179	MYOM1_HUMAN			18	3063	-			910					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.2729C>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	0.250	-1.007254	0.02112	.	.	ENSG00000101605	ENST00000356443;ENST00000400569	T;T	0.39229	1.09;1.1	5.88	4.07	0.47477	.	1.067640	0.07173	N	0.852646	T	0.28896	0.0717	N	0.19112	0.55	0.23920	N	0.996467	B	0.06786	0.001	B	0.04013	0.001	T	0.16335	-1.0406	10	0.29301	T	0.29	.	7.7249	0.28755	0.1332:0.0:0.734:0.1328	.	910	P52179	MYOM1_HUMAN	Q	910	ENSP00000348821:P910Q;ENSP00000383413:P910Q	ENSP00000348821:P910Q	P	-	2	0	MYOM1	3119295	0.982000	0.34865	0.067000	0.19924	0.275000	0.26752	2.835000	0.48175	1.474000	0.48178	0.655000	0.94253	CCA		PASS	0.488	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		6	91	6	91	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3187488	3187488	+	Missense_Mutation	SNP	G	G	T	rs368343125		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr18:3187488G>T	ENST00000356443.4	-	5	1252	c.919C>A	c.(919-921)Cgt>Agt	p.R307S	MYOM1_ENST00000261606.7_Missense_Mutation_p.R307S|MYOM1_ENST00000400569.3_Missense_Mutation_p.R307S|RP13-270P17.2_ENST00000580139.1_RNA	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	307	Ig-like C2-type 1.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.R307S(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACGTGACACGAGGTTCTGGC	0.438																																						uc002klp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(919-921)CGT>AGT		myomesin 1 isoform a							154.0	145.0	148.0					18																	3187488		1974	4149	6123	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3187488G>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.919C>A	18.37:g.3187488G>T	ENSP00000348821:p.Arg307Ser					MYOM1_uc002klq.2_Missense_Mutation_p.R307S	p.R307S	NM_003803	NP_003794	P52179	MYOM1_HUMAN			5	1253	-			307			Ig-like C2-type 1.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.919C>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483030	0.84747	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.64260	-0.09;-0.09;-0.09	5.4	5.4	0.78164	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67655	0.2916	N	0.21097	0.63	0.49687	D	0.999812	D;D	0.89917	0.989;1.0	D;D	0.79784	0.918;0.993	T	0.61491	-0.7052	10	0.17369	T	0.5	.	19.5338	0.95240	0.0:0.0:1.0:0.0	.	307;307	P52179-2;P52179	.;MYOM1_HUMAN	S	307	ENSP00000348821:R307S;ENSP00000383413:R307S;ENSP00000261606:R307S	ENSP00000261606:R307S	R	-	1	0	MYOM1	3177488	1.000000	0.71417	0.984000	0.44739	0.940000	0.58332	7.297000	0.78799	2.692000	0.91855	0.557000	0.71058	CGT		PASS	0.438	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		8	247	8	247	---	---	---	---
AFG3L2	10939	broad.mit.edu	37	18	12358705	12358705	+	Silent	SNP	T	T	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr18:12358705T>A	ENST00000269143.3	-	8	1221	c.990A>T	c.(988-990)ccA>ccT	p.P330P		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	330					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.P330P(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	GATACTGCTTTGGGTTTTTCA	0.353																																						uc002kqz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(988-990)CCA>CCT		AFG3 ATPase family gene 3-like 2	Adenosine triphosphate(DB00171)						63.0	60.0	61.0					18																	12358705		2203	4300	6503	SO:0001819	synonymous_variant	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12358705T>A	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.990A>T	18.37:g.12358705T>A							p.P330P	NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN			8	1103	-			330					Q6P1L0	Silent	SNP	ENST00000269143.3	37	c.990A>T	CCDS11859.1																																																																																				PASS	0.353	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		6	55	6	55	---	---	---	---
PSMA8	143471	broad.mit.edu	37	18	23731821	23731821	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr18:23731821G>T	ENST00000308268.6	+	3	336	c.247G>T	c.(247-249)Gga>Tga	p.G83*	PSMA8_ENST00000343848.6_Splice_Site|PSMA8_ENST00000415576.2_Splice_Site	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	83					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.G83*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			AATTTTTATAGGACTTACTGC	0.353																																						uc002kvq.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(247-249)GGA>TGA		proteasome alpha 8 subunit isoform 1							93.0	93.0	93.0					18																	23731821		2203	4300	6503	SO:0001587	stop_gained	143471				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	g.chr18:23731821G>T	BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"""Proteasome (prosome, macropain) subunits"""	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.247G>T	18.37:g.23731821G>T	ENSP00000311121:p.Gly83*					PSMA8_uc002kvo.2_Splice_Site_p.G39_splice|PSMA8_uc002kvp.2_Splice_Site_p.G77_splice|PSMA8_uc002kvr.2_Splice_Site_p.G51_splice	p.G83*	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)		3	361	+	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		83					B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Nonsense_Mutation	SNP	ENST00000308268.6	37	c.247G>T	CCDS32808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.66|14.66	2.602626|2.602626	0.46423|0.46423	.|.	.|.	ENSG00000154611|ENSG00000154611	ENST00000415576;ENST00000343848;ENST00000538664|ENST00000308268;ENST00000536423	.|.	.|.	.|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.87932	.|D	.|0	.|-28.064	16.5892|16.5892	0.84760|0.84760	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|83;39	.|.	.|ENSP00000311121:G83X	.|G	+|+	.|1	.|0	PSMA8|PSMA8	21985819|21985819	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.318000|0.318000	0.28184|0.28184	8.510000|8.510000	0.90532|0.90532	2.785000|2.785000	0.95823|0.95823	0.655000|0.655000	0.94253|0.94253	.|GGA		PASS	0.353	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446255.1	NM_144662		7	147	7	147	---	---	---	---
CHST9	83539	broad.mit.edu	37	18	24722673	24722673	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr18:24722673C>A	ENST00000284224.8	-	2	378	c.101G>T	c.(100-102)tGg>tTg	p.W34L	CHST9_ENST00000581714.1_Missense_Mutation_p.W34L|CHST9_ENST00000580774.1_Missense_Mutation_p.W34L|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	34					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.W34L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TTCTTCAATCCAGACTTGCAA	0.348																																						uc002kwd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(100-102)TGG>TTG		GalNAc-4-sulfotransferase 2							98.0	91.0	93.0					18																	24722673		1834	4082	5916	SO:0001583	missense	83539				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr18:24722673C>A	AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.101G>T	18.37:g.24722673C>A	ENSP00000284224:p.Trp34Leu					C18orf16_uc010xbm.1_Intron|CHST9_uc002kwe.2_Missense_Mutation_p.W34L	p.W34L	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN			1	299	-	all_lung(6;0.0145)|Ovarian(20;0.124)		34			Lumenal (Potential).		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	c.101G>T	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958571	0.53400	.	.	ENSG00000154080	ENST00000284224	T	0.74421	-0.84	5.21	5.21	0.72293	.	0.949413	0.08796	N	0.892524	T	0.61085	0.2319	N	0.19112	0.55	0.34591	D	0.715517	B	0.20052	0.041	B	0.21917	0.037	T	0.49283	-0.8956	10	0.02654	T	1	1.249	15.6638	0.77209	0.0:1.0:0.0:0.0	.	34	Q7L1S5	CHST9_HUMAN	L	34	ENSP00000284224:W34L	ENSP00000284224:W34L	W	-	2	0	CHST9	22976671	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.971000	0.63749	2.436000	0.82500	0.484000	0.47621	TGG		PASS	0.348	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		7	120	7	120	---	---	---	---
TCEB3C	162699	broad.mit.edu	37	18	44555132	44555132	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr18:44555132G>T	ENST00000330682.2	-	1	1317	c.1082C>A	c.(1081-1083)tCg>tAg	p.S361*	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	361	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S361L(1)|p.S361*(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTCAAGAACCGAGTAGGGGAC	0.627																																						uc010xdb.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		NS(1)|lung(1)		0						c.(1081-1083)TCG>TAG		transcription elongation factor B polypeptide							328.0	314.0	319.0					18																	44555132		1934	3905	5839	SO:0001587	stop_gained	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555132G>T	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1082C>A	18.37:g.44555132G>T	ENSP00000328232:p.Ser361*					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.S361*	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN			1	1318	-			361			Activation domain (By similarity).			Nonsense_Mutation	SNP	ENST00000330682.2	37	c.1082C>A	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	g	17.68	3.450016	0.63290	.	.	ENSG00000183791	ENST00000330682	.	.	.	1.75	-3.5	0.04710	.	0.943906	0.08771	N	0.896218	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	0.2029	6.5774	0.22575	0.0:0.24:0.6075:0.1525	.	.	.	.	X	361	.	ENSP00000328232:S361X	S	-	2	0	TCEB3C	42809130	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.275000	0.18698	-1.023000	0.03342	-0.350000	0.07774	TCG		PASS	0.627	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		10	453	10	453	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56202524	56202524	+	Missense_Mutation	SNP	A	A	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr18:56202524A>G	ENST00000361673.3	-	5	5108	c.4895T>C	c.(4894-4896)aTa>aCa	p.I1632T	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1632						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I993T(1)|p.I1632T(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AAGCACCTCTATTTTAGGTTC	0.448																																						uc002lhj.3																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(4894-4896)ATA>ACA		heart alpha-kinase							57.0	60.0	59.0					18																	56202524		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56202524A>G	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.4895T>C	18.37:g.56202524A>G	ENSP00000354991:p.Ile1632Thr					ALPK2_uc002lhk.1_Missense_Mutation_p.I963T	p.I1632T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	5109	-			1632					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.4895T>C	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	11.17	1.558821	0.27827	.	.	ENSG00000198796	ENST00000361673	T	0.50001	0.76	5.27	-10.5	0.00291	.	3.067430	0.00481	N	0.000120	T	0.30792	0.0776	L	0.36672	1.1	0.09310	N	1	B;B	0.20988	0.05;0.013	B;B	0.20184	0.028;0.003	T	0.06643	-1.0815	10	0.28530	T	0.3	5.9655	5.7847	0.18326	0.1405:0.4649:0.3021:0.0925	.	1627;1632	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	T	1632	ENSP00000354991:I1632T	ENSP00000354991:I1632T	I	-	2	0	ALPK2	54353504	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.628000	0.00873	-2.263000	0.00689	-0.333000	0.08304	ATA		PASS	0.448	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		9	29	9	29	---	---	---	---
PHLPP1	23239	broad.mit.edu	37	18	60563036	60563036	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr18:60563036G>T	ENST00000262719.5	+	6	2470	c.2236G>T	c.(2236-2238)Gga>Tga	p.G746*	PHLPP1_ENST00000400316.4_Nonsense_Mutation_p.G234*			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	746					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.G746*(2)|p.G233*(1)		endometrium(2)|kidney(2)|lung(13)	17						TTTGTTGGATGGAAACTTTCT	0.328																																						uc002lis.2																			3	Substitution - Nonsense(3)		lung(3)		0						c.(700-702)GGA>TGA		PH domain and leucine rich repeat protein							146.0	138.0	141.0					18																	60563036		1833	4075	5908	SO:0001587	stop_gained	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60563036G>T	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.2236G>T	18.37:g.60563036G>T	ENSP00000262719:p.Gly746*						p.G234*	NM_194449	NP_919431	O60346	PHLP1_HUMAN			7	878	+			746			LRR 5.		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Nonsense_Mutation	SNP	ENST00000262719.5	37	c.700G>T	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	51	18.045995	0.99898	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-11.2869	18.4532	0.90711	0.0:0.0:1.0:0.0	.	.	.	.	X	234;746	.	ENSP00000262719:G746X	G	+	1	0	PHLPP1	58714016	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.232000	0.95325	2.608000	0.88229	0.591000	0.81541	GGA		PASS	0.328	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		5	63	5	63	---	---	---	---
GALR1	2587	broad.mit.edu	37	18	74962936	74962936	+	Silent	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr18:74962936C>A	ENST00000299727.3	+	1	432	c.432C>A	c.(430-432)tcC>tcA	p.S144S		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	144					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.S144S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GGCGCTCCTCCTCCCTCAGGG	0.667																																						uc002lms.3																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(430-432)TCC>TCA		galanin receptor 1							59.0	51.0	54.0					18																	74962936		2203	4299	6502	SO:0001819	synonymous_variant	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74962936C>A	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.432C>A	18.37:g.74962936C>A							p.S144S	NM_001480	NP_001471	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	1	929	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	144			Cytoplasmic (Potential).		Q4VBL7	Silent	SNP	ENST00000299727.3	37	c.432C>A	CCDS12012.1																																																																																				PASS	0.667	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			12	18	12	18	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76753968	76753968	+	Silent	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr18:76753968G>A	ENST00000537592.2	+	2	1977	c.1977G>A	c.(1975-1977)tcG>tcA	p.S659S	SALL3_ENST00000536229.3_Silent_p.S526S|SALL3_ENST00000575389.2_Silent_p.S659S	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	659					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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.S659S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGCAAACGTCGGAAACCTCGA	0.647																																						uc002lmt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1975-1977)TCG>TCA		sal-like 3							27.0	28.0	28.0					18																	76753968		2201	4298	6499	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753968G>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1977G>A	18.37:g.76753968G>A						SALL3_uc010dra.2_Silent_p.S266S	p.S659S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	1977	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	659					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.1977G>A	CCDS12013.1																																																																																				PASS	0.647	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		11	11	11	11	---	---	---	---
CIRBP	1153	broad.mit.edu	37	19	1271623	1271623	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:1271623C>A	ENST00000588030.1	+	5	683	c.423C>A	c.(421-423)taC>taA	p.Y141*	CIRBP_ENST00000444172.2_Nonsense_Mutation_p.Y88*|CIRBP_ENST00000587323.1_Nonsense_Mutation_p.Y141*|CIRBP_ENST00000320936.5_Nonsense_Mutation_p.Y141*|CIRBP_ENST00000589686.1_Nonsense_Mutation_p.Y141*|CIRBP_ENST00000586773.1_Nonsense_Mutation_p.Y141*|CIRBP_ENST00000413636.2_Nonsense_Mutation_p.Y107*|CIRBP_ENST00000589710.1_Nonsense_Mutation_p.Y141*|CIRBP_ENST00000588230.1_Nonsense_Mutation_p.Y141*|CIRBP_ENST00000585630.1_Nonsense_Mutation_p.Y141*|CIRBP_ENST00000589660.1_Nonsense_Mutation_p.Y141*|CIRBP_ENST00000588090.1_Nonsense_Mutation_p.Y141*|CIRBP_ENST00000591935.1_Nonsense_Mutation_p.Y141*|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000586472.1_Nonsense_Mutation_p.Y141*|CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000589235.1_Nonsense_Mutation_p.Y141*|CIRBP_ENST00000587896.1_Nonsense_Mutation_p.Y141*			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	141	Gly-rich.				mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371)	p.Y141*(1)		endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGAGACTACTATAGCAGGT	0.642																																						uc002lrr.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(421-423)TAC>TAA		cold inducible RNA binding protein							13.0	15.0	14.0					19																	1271623		2135	4202	6337	SO:0001587	stop_gained	1153				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity	g.chr19:1271623C>A	D78134	CCDS12059.1, CCDS74244.1, CCDS74245.1	19p13.3	2013-02-12	2001-11-28		ENSG00000099622	ENSG00000099622		"""RNA binding motif (RRM) containing"""	1982	protein-coding gene	gene with protein product	"""Cold-inducible RNA-binding protein"", ""glycine-rich RNA binding protein"""	602649	"""cold inducible RNA-binding protein"""			9434172, 9151692	Standard	NM_001280		Approved	CIRP	uc002lrr.4	Q14011		ENST00000588030.1:c.423C>A	19.37:g.1271623C>A	ENSP00000468788:p.Tyr141*					C19orf23_uc010xgk.1_5'Flank|CIRBP_uc010dsg.1_Nonsense_Mutation_p.Y130*|CIRBP_uc002lrt.2_Nonsense_Mutation_p.Y141*|CIRBP_uc010xgl.1_Nonsense_Mutation_p.Y107*|CIRBP_uc002lrv.3_Nonsense_Mutation_p.Y141*|CIRBP_uc002lru.2_RNA	p.Y141*	NM_001280	NP_001271	Q14011	CIRBP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	572	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)	141			Gly-rich.		B3KT17|B4E2X2	Nonsense_Mutation	SNP	ENST00000588030.1	37	c.423C>A	CCDS12059.1	.	.	.	.	.	.	.	.	.	.	C	36	5.667146	0.96745	.	.	ENSG00000099622	ENST00000320936;ENST00000413636;ENST00000444172	.	.	.	4.23	1.58	0.23477	.	0.194050	0.35436	N	0.003219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.8304	8.7955	0.34876	0.0:0.7717:0.0:0.2283	.	.	.	.	X	141;107;88	.	ENSP00000322887:Y141X	Y	+	3	2	CIRBP	1222623	0.986000	0.35501	0.997000	0.53966	0.893000	0.52053	0.005000	0.13129	0.759000	0.33084	0.462000	0.41574	TAC		PASS	0.642	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449969.1	NM_001280		3	8	3	8	---	---	---	---
TJP3	27134	broad.mit.edu	37	19	3738570	3738570	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:3738570C>G	ENST00000541714.2	+	12	1764	c.1302C>G	c.(1300-1302)ttC>ttG	p.F434L	TJP3_ENST00000262968.9_Missense_Mutation_p.F467L|TJP3_ENST00000587686.1_Missense_Mutation_p.F453L|TJP3_ENST00000539908.2_Missense_Mutation_p.F398L|TJP3_ENST00000382008.3_Missense_Mutation_p.F448L|TJP3_ENST00000589378.1_Missense_Mutation_p.F443L	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	434	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)		p.F467L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTGCCATTCCAGAACCTGA	0.577																																						uc010xhv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1399-1401)TTC>TTG		tight junction protein 3							130.0	112.0	118.0					19																	3738570		2203	4300	6503	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3738570C>G	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1302C>G	19.37:g.3738570C>G	ENSP00000439278:p.Phe434Leu					TJP3_uc010xhs.1_Missense_Mutation_p.F434L|TJP3_uc010xht.1_Missense_Mutation_p.F398L|TJP3_uc010xhu.1_Missense_Mutation_p.F443L|TJP3_uc010xhw.1_Missense_Mutation_p.F453L	p.F467L	NM_014428	NP_055243	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1401	+			448			PDZ 3.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.1401C>G	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986788	0.53934	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	4.94	1.55	0.23275	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	N	0.11673	0.155	0.53688	D	0.99997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.998;0.996	T	0.36841	-0.9731	10	0.72032	D	0.01	.	9.1145	0.36748	0.0:0.7498:0.0:0.2502	.	453;467;448;434	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	L	434;398;448;467	ENSP00000439278:F434L;ENSP00000439991:F398L;ENSP00000371438:F448L;ENSP00000262968:F467L	ENSP00000262968:F467L	F	+	3	2	TJP3	3689570	0.562000	0.26586	0.955000	0.39395	0.436000	0.31835	1.241000	0.32743	0.463000	0.27118	0.491000	0.48974	TTC		PASS	0.577	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			28	47	28	47	---	---	---	---
TJP3	27134	broad.mit.edu	37	19	3738989	3738989	+	Silent	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:3738989C>T	ENST00000541714.2	+	13	1950	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	TJP3_ENST00000262968.9_Silent_p.F529F|TJP3_ENST00000587686.1_Silent_p.F515F|TJP3_ENST00000539908.2_Silent_p.F460F|TJP3_ENST00000382008.3_Silent_p.F510F|TJP3_ENST00000589378.1_Silent_p.F505F	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	496	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)		p.F529F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTGGGCTTCACCCGTGGCG	0.662																																						uc010xhv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1585-1587)TTC>TTT		tight junction protein 3							55.0	53.0	54.0					19																	3738989		2203	4300	6503	SO:0001819	synonymous_variant	27134					tight junction	protein binding	g.chr19:3738989C>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1488C>T	19.37:g.3738989C>T						TJP3_uc010xhs.1_Silent_p.F496F|TJP3_uc010xht.1_Silent_p.F460F|TJP3_uc010xhu.1_Silent_p.F505F|TJP3_uc010xhw.1_Silent_p.F515F	p.F529F	NM_014428	NP_055243	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1587	+			510			SH3.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Silent	SNP	ENST00000541714.2	37	c.1587C>T	CCDS32873.2																																																																																				PASS	0.662	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			18	16	18	16	---	---	---	---
CAMSAP3	57662	broad.mit.edu	37	19	7675643	7675643	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:7675643G>T	ENST00000160298.4	+	7	1059	c.958G>T	c.(958-960)Gac>Tac	p.D320Y	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.D347Y	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	320					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)	p.D347Y(2)|p.D320Y(1)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCTCAAGCCCGACTTTGTGCA	0.667																																						uc002mgv.3																			3	Substitution - Missense(3)		lung(3)	pancreas(1)	1						c.(958-960)GAC>TAC		NEZHA isoform 2							117.0	117.0	117.0					19																	7675643		1965	4136	6101	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7675643G>T	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.958G>T	19.37:g.7675643G>T	ENSP00000160298:p.Asp320Tyr					KIAA1543_uc002mgu.3_Missense_Mutation_p.D347Y	p.D320Y	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN			7	1059	+			320					Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.958G>T	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	g	28.2	4.902913	0.92035	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.17691	2.27;2.26	5.48	5.48	0.80851	Calponin homology domain (1);	0.105314	0.64402	D	0.000006	T	0.40839	0.1133	L	0.56769	1.78	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.12344	-1.0551	10	0.66056	D	0.02	-35.9695	18.1204	0.89569	0.0:0.0:1.0:0.0	.	320;347	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	Y	347;320	ENSP00000416797:D347Y;ENSP00000160298:D320Y	ENSP00000160298:D320Y	D	+	1	0	KIAA1543	7581643	1.000000	0.71417	0.959000	0.39883	0.966000	0.64601	5.966000	0.70395	2.569000	0.86673	0.643000	0.83706	GAC		PASS	0.667	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		6	87	6	87	---	---	---	---
ZNF559	84527	broad.mit.edu	37	19	9449884	9449884	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:9449884G>C	ENST00000393883.2	+	4	697	c.49G>C	c.(49-51)Gag>Cag	p.E17Q	ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000586255.1_Missense_Mutation_p.E45Q|ZNF559_ENST00000317221.7_Missense_Mutation_p.E17Q|ZNF559_ENST00000603380.1_Missense_Mutation_p.E17Q|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000592896.1_Missense_Mutation_p.E45Q|ZNF559_ENST00000592504.1_Missense_Mutation_p.E17Q|ZNF559_ENST00000538743.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000585352.1_Missense_Mutation_p.E17Q|ZNF559_ENST00000587557.1_Missense_Mutation_p.E81Q	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	17	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.E17Q(1)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						AGTGACCTTTGAGGATGTGGC	0.478																																						uc002mlg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(49-51)GAG>CAG		zinc finger protein 559							223.0	187.0	199.0					19																	9449884		2203	4300	6503	SO:0001583	missense	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9449884G>C	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.49G>C	19.37:g.9449884G>C	ENSP00000377461:p.Glu17Gln					ZNF559_uc002mlf.2_5'UTR|ZNF559_uc010dwl.1_5'UTR|ZNF559_uc010xkn.1_Intron|ZNF559_uc010dwm.1_Missense_Mutation_p.E17Q|ZNF559_uc002mle.3_Missense_Mutation_p.E81Q|ZNF559_uc010dwk.1_5'UTR|ZNF559_uc002mld.2_Missense_Mutation_p.E81Q|ZNF559_uc010dwo.1_Missense_Mutation_p.E45Q|ZNF559_uc002mlh.1_RNA|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	p.E17Q	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN			5	696	+			17			KRAB.		K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	c.49G>C	CCDS12211.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740359	0.30865	.	.	ENSG00000188321	ENST00000317221;ENST00000393883	T;T	0.02197	4.4;4.4	2.42	2.42	0.29668	Krueppel-associated box (4);	.	.	.	.	T	0.05456	0.0144	L	0.48642	1.525	0.80722	D	1	D	0.55172	0.97	P	0.60345	0.873	T	0.56541	-0.7962	9	0.16420	T	0.52	.	10.9745	0.47459	0.0:0.0:1.0:0.0	.	17	Q9BR84	ZN559_HUMAN	Q	17	ENSP00000325393:E17Q;ENSP00000377461:E17Q	ENSP00000325393:E17Q	E	+	1	0	ZNF559	9310884	0.964000	0.33143	0.420000	0.26596	0.908000	0.53690	2.869000	0.48444	1.666000	0.50821	0.313000	0.20887	GAG		PASS	0.478	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		4	59	4	59	---	---	---	---
ZSWIM4	65249	broad.mit.edu	37	19	13941475	13941475	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:13941475G>T	ENST00000254323.2	+	13	2770	c.2581G>T	c.(2581-2583)Gag>Tag	p.E861*	ZSWIM4_ENST00000440752.2_Nonsense_Mutation_p.E695*	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	861							zinc ion binding (GO:0008270)	p.E861*(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GGGCCGGCACGAGCTCTCTGC	0.657																																						uc002mxh.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)	2						c.(2581-2583)GAG>TAG		zinc finger, SWIM-type containing 4							120.0	115.0	117.0					19																	13941475		2203	4300	6503	SO:0001587	stop_gained	65249						zinc ion binding	g.chr19:13941475G>T	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2581G>T	19.37:g.13941475G>T	ENSP00000254323:p.Glu861*					ZSWIM4_uc010xng.1_Nonsense_Mutation_p.E784*	p.E861*	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	2770	+			861						Nonsense_Mutation	SNP	ENST00000254323.2	37	c.2581G>T	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	G	41	8.940838	0.99010	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	.	.	.	4.37	4.37	0.52481	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-14.3907	14.3999	0.67037	0.0:0.0:1.0:0.0	.	.	.	.	X	861;695	.	ENSP00000254323:E861X	E	+	1	0	ZSWIM4	13802475	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.168000	0.77570	1.971000	0.57363	0.491000	0.48974	GAG		PASS	0.657	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		5	118	5	118	---	---	---	---
RLN3	117579	broad.mit.edu	37	19	14141522	14141522	+	Splice_Site	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:14141522G>T	ENST00000431365.2	+	2	248	c.191G>T	c.(190-192)gGa>gTa	p.G64V	IL27RA_ENST00000263379.2_5'Flank|CTB-55O6.4_ENST00000590528.1_RNA|RLN3_ENST00000585987.1_Splice_Site_p.E101D	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	64						extracellular region (GO:0005576)		p.G64V(1)		endometrium(1)|lung(4)	5						TCTTTTGCAGGAGATACCTTC	0.567																																						uc002mxw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)GGA>GTA		relaxin 3 preproprotein							78.0	80.0	79.0					19																	14141522		2203	4300	6503	SO:0001630	splice_region_variant	117579					extracellular region	hormone activity	g.chr19:14141522G>T	AF447451	CCDS12302.1	19p13.2	2013-02-26	2004-11-15					"""Endogenous ligands"""	17135	protein-coding gene	gene with protein product	"""prorelaxin H3"""	606855	"""relaxin 3 (H3)"""				Standard	NM_080864		Approved	ZINS4, RXN3, H3	uc002mxw.1	Q8WXF3		ENST00000431365.2:c.191-1G>T	19.37:g.14141522G>T						IL27RA_uc002mxx.2_5'Flank|RLN3_uc010dzj.1_Missense_Mutation_p.E101D	p.G64V	NM_080864	NP_543140	Q8WXF3	REL3_HUMAN			2	191	+			64					Q6UXW5	Missense_Mutation	SNP	ENST00000431365.2	37	c.191G>T	CCDS12302.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609759	0.28623	.	.	ENSG00000171136	ENST00000431365	D	0.88046	-2.33	4.81	-1.75	0.08031	Insulin-like (3);	1.452430	0.03644	N	0.239988	T	0.81880	0.4916	L	0.46885	1.475	0.09310	N	0.999999	B	0.27882	0.192	B	0.34138	0.176	T	0.63457	-0.6633	9	.	.	.	.	1.8347	0.03137	0.2468:0.1347:0.4805:0.1381	.	64	Q8WXF3	REL3_HUMAN	V	64	ENSP00000397415:G64V	.	G	+	2	0	RLN3	14002522	0.184000	0.23200	0.061000	0.19648	0.083000	0.17756	0.135000	0.15952	-0.165000	0.10908	-0.424000	0.05967	GGA		PASS	0.567	RLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458529.1		Missense_Mutation	6	81	6	81	---	---	---	---
BRD4	23476	broad.mit.edu	37	19	15349944	15349944	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:15349944C>A	ENST00000263377.2	-	18	3929	c.3708G>T	c.(3706-3708)gaG>gaT	p.E1236D		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1236	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)	p.E1236D(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CCTTCTCACGCTCCTCTTTCT	0.662			T	C15orf55	lethal midline carcinoma of young people																																	uc002nar.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	NUT|C15orf55		lethal midline carcinoma of young people		1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3706-3708)GAG>GAT		bromodomain-containing protein 4 isoform long							28.0	30.0	29.0					19																	15349944		2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15349944C>A	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3708G>T	19.37:g.15349944C>A	ENSP00000263377:p.Glu1236Asp						p.E1236D	NM_058243	NP_490597	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		18	3930	-			1236					O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.3708G>T	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	c	12.98	2.099947	0.37048	.	.	ENSG00000141867	ENST00000263377	T	0.02579	4.24	4.76	0.0458	0.14231	.	0.000000	0.53938	D	0.000054	T	0.07503	0.0189	L	0.50333	1.59	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	T	0.19647	-1.0299	10	0.30078	T	0.28	-25.0324	9.378	0.38295	0.0:0.6883:0.0:0.3117	.	1236	O60885	BRD4_HUMAN	D	1236	ENSP00000263377:E1236D	ENSP00000263377:E1236D	E	-	3	2	BRD4	15210944	1.000000	0.71417	0.831000	0.32960	0.882000	0.50991	0.859000	0.27858	-0.144000	0.11314	-0.270000	0.10280	GAG		PASS	0.662	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		5	13	5	13	---	---	---	---
TMEM38A	79041	broad.mit.edu	37	19	16791207	16791207	+	Splice_Site	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:16791207G>T	ENST00000187762.2	+	3	372		c.e3-1			NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)	p.?(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CTCCCCAAAAGGTACTTGATT	0.547																																						uc002nes.2																			1	Unknown(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.e3-1		transmembrane protein 38A							371.0	349.0	357.0					19																	16791207		2203	4300	6503	SO:0001630	splice_region_variant	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16791207G>T	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.282-1G>T	19.37:g.16791207G>T							p.W94_splice	NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN			3	373	+								A8K9P9	Splice_Site	SNP	ENST00000187762.2	37	c.282_splice	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245929	0.80024	.	.	ENSG00000072954	ENST00000187762	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3431	0.90312	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM38A	16652207	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.695000	0.98691	2.656000	0.90262	0.561000	0.74099	.		PASS	0.547	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074	Intron	10	330	10	330	---	---	---	---
ZNF85	7639	broad.mit.edu	37	19	21132556	21132556	+	Silent	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:21132556C>A	ENST00000328178.8	+	4	1349	c.1236C>A	c.(1234-1236)acC>acA	p.T412T	ZNF85_ENST00000601023.1_Silent_p.T353T|ZNF85_ENST00000345030.6_Silent_p.T379T	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	412					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.T412T(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						ACTCTTCAACCCTTACTAAAC	0.308																																						uc002npg.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1234-1236)ACC>ACA		zinc finger protein 85							29.0	31.0	30.0					19																	21132556		2200	4293	6493	SO:0001819	synonymous_variant	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21132556C>A	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1236C>A	19.37:g.21132556C>A						ZNF85_uc010ecn.2_Silent_p.T347T|ZNF85_uc010eco.2_Silent_p.T360T|ZNF85_uc002npi.2_Silent_p.T353T	p.T412T	NM_003429	NP_003420	Q03923	ZNF85_HUMAN			4	1363	+			412			C2H2-type 10.		B9ZVP4|Q6NVI0	Silent	SNP	ENST00000328178.8	37	c.1236C>A	CCDS32977.1																																																																																				PASS	0.308	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		5	13	5	13	---	---	---	---
ZNF43	7594	broad.mit.edu	37	19	21990893	21990893	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:21990893G>C	ENST00000354959.4	-	4	2115	c.1946C>G	c.(1945-1947)cCc>cGc	p.P649R	ZNF43_ENST00000595461.1_Missense_Mutation_p.P643R|ZNF43_ENST00000598381.1_Missense_Mutation_p.P643R|ZNF43_ENST00000594012.1_Missense_Mutation_p.P643R	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	649					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P649R(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ACATTTGTAGGGTTTCTCCTC	0.373																																						uc002nqj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1945-1947)CCC>CGC		zinc finger protein 43							46.0	49.0	48.0					19																	21990893		2201	4296	6497	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21990893G>C	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1946C>G	19.37:g.21990893G>C	ENSP00000347045:p.Pro649Arg					ZNF43_uc010ecv.2_Missense_Mutation_p.P643R|ZNF43_uc002nql.2_Missense_Mutation_p.P643R|ZNF43_uc002nqm.2_Missense_Mutation_p.P643R|ZNF43_uc002nqk.2_Missense_Mutation_p.P579R	p.P649R	NM_003423	NP_003414	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	4	2076	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	649					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1946C>G	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	g	9.572	1.121361	0.20877	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.17213	2.29	1.21	1.21	0.21127	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38480	0.1042	M	0.76838	2.35	0.35337	D	0.786158	D	0.71674	0.998	D	0.76071	0.987	T	0.54403	-0.8299	9	0.87932	D	0	.	9.9325	0.41530	0.0:0.0:1.0:0.0	.	649	P17038	ZNF43_HUMAN	R	648;649	ENSP00000347045:P649R	ENSP00000347045:P649R	P	-	2	0	ZNF43	21782733	0.019000	0.18553	0.103000	0.21229	0.914000	0.54420	0.743000	0.26231	0.976000	0.38417	0.305000	0.20034	CCC		PASS	0.373	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		4	19	4	19	---	---	---	---
ZNF675	171392	broad.mit.edu	37	19	23836935	23836935	+	Missense_Mutation	SNP	T	T	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:23836935T>A	ENST00000359788.4	-	4	968	c.800A>T	c.(799-801)cAg>cTg	p.Q267L	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	267					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q267L(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GTGTGAGGACTGGTTAAAGGC	0.358																																						uc002nri.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(799-801)CAG>CTG		zinc finger protein 675							64.0	67.0	66.0					19																	23836935		2202	4300	6502	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23836935T>A		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.800A>T	19.37:g.23836935T>A	ENSP00000352836:p.Gln267Leu						p.Q267L	NM_138330	NP_612203	Q8TD23	ZN675_HUMAN			4	982	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	267			C2H2-type 5.		Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.800A>T	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	2.912	-0.225136	0.06022	.	.	ENSG00000197372	ENST00000359788	T	0.06142	3.34	0.916	-1.83	0.07833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05090	0.0136	L	0.41824	1.3	0.09310	N	1	B	0.23650	0.089	B	0.20767	0.031	T	0.37197	-0.9716	9	0.41790	T	0.15	.	4.7657	0.13130	0.4734:0.0:0.0:0.5266	.	267	Q8TD23	ZN675_HUMAN	L	267	ENSP00000352836:Q267L	ENSP00000352836:Q267L	Q	-	2	0	ZNF675	23628775	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-5.471000	0.00120	-0.963000	0.03600	-1.026000	0.02426	CAG		PASS	0.358	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		6	28	6	28	---	---	---	---
ZNF681	148213	broad.mit.edu	37	19	23927658	23927658	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:23927658C>A	ENST00000402377.3	-	4	835	c.694G>T	c.(694-696)Ggc>Tgc	p.G232C	ZNF681_ENST00000395385.3_Missense_Mutation_p.G163C	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G163C(1)|p.G232C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CAGGCTTTGCCACATTCTTCA	0.343																																						uc002nrk.3																			2	Substitution - Missense(2)		lung(2)		0						c.(694-696)GGC>TGC		zinc finger protein 681							66.0	65.0	65.0					19																	23927658		2203	4299	6502	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927658C>A	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.694G>T	19.37:g.23927658C>A	ENSP00000384000:p.Gly232Cys					ZNF681_uc002nrl.3_Missense_Mutation_p.G163C|ZNF681_uc002nrj.3_Missense_Mutation_p.G163C	p.G232C	NM_138286	NP_612143	Q96N22	ZN681_HUMAN			4	836	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	232			C2H2-type 3; degenerate.		B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.694G>T	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	13.12	2.142131	0.37825	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.23754	1.89;1.89	1.52	1.52	0.23074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.52964	0.1767	M	0.89478	3.035	0.24718	N	0.993166	D	0.89917	1.0	D	0.97110	1.0	T	0.34378	-0.9831	9	0.87932	D	0	.	8.7003	0.34320	0.0:1.0:0.0:0.0	.	232	Q96N22	ZN681_HUMAN	C	232;163	ENSP00000384000:G232C;ENSP00000378783:G163C	ENSP00000378783:G163C	G	-	1	0	ZNF681	23719498	0.057000	0.20700	0.145000	0.22337	0.394000	0.30568	1.808000	0.38912	0.860000	0.35481	0.440000	0.28878	GGC		PASS	0.343	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		5	12	5	12	---	---	---	---
KIAA0355	9710	broad.mit.edu	37	19	34818703	34818703	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:34818703G>T	ENST00000299505.6	+	5	1747	c.874G>T	c.(874-876)Gga>Tga	p.G292*		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	292								p.G292*(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GGAAAGCTTAGGACACTGTGA	0.383																																						uc002nvd.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(874-876)GGA>TGA		hypothetical protein LOC9710							80.0	83.0	82.0					19																	34818703		2203	4300	6503	SO:0001587	stop_gained	9710							g.chr19:34818703G>T		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.874G>T	19.37:g.34818703G>T	ENSP00000299505:p.Gly292*						p.G292*	NM_014686	NP_055501	O15063	K0355_HUMAN			5	1733	+	Esophageal squamous(110;0.162)		292					Q2M3W4	Nonsense_Mutation	SNP	ENST00000299505.6	37	c.874G>T	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	G	45	12.017255	0.99627	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.9073	19.3067	0.94165	0.0:0.0:1.0:0.0	.	.	.	.	X	292	.	ENSP00000299505:G292X	G	+	1	0	KIAA0355	39510543	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.400000	0.97290	2.580000	0.87095	0.544000	0.68410	GGA		PASS	0.383	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		6	85	6	85	---	---	---	---
SCGB2B2	284402	broad.mit.edu	37	19	35085114	35085114	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:35085114G>T	ENST00000601241.1	-	3	2312	c.212C>A	c.(211-213)tCc>tAc	p.S71Y	SCGB2B2_ENST00000379204.2_Missense_Mutation_p.S71Y|SCGB2B2_ENST00000595326.1_Intron			Q4G0G5	SC2B2_HUMAN	secretoglobin, family 2B, member 2	71						extracellular region (GO:0005576)		p.S71Y(1)									TTCTGTCACGGAGACATTGGC	0.547																																						uc002nvn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(211-213)TCC>TAC		secretoglobin-like precursor							116.0	100.0	105.0					19																	35085114		2203	4300	6503	SO:0001583	missense	284402					extracellular region	binding	g.chr19:35085114G>T	AK093495	CCDS32989.1	19q13.12	2011-12-14	2011-12-14	2011-12-14	ENSG00000205209	ENSG00000205209		"""Secretoglobins"""	27616	protein-coding gene	gene with protein product		615063	"""secretoglobin-like"""	SCGBL		22155607	Standard	NM_001025591		Approved	SCGB4A2	uc002nvn.3	Q4G0G5		ENST00000601241.1:c.212C>A	19.37:g.35085114G>T	ENSP00000469876:p.Ser71Tyr						p.S71Y	NM_001025591	NP_001020762	Q4G0G5	SCGBL_HUMAN			2	234	-			71						Missense_Mutation	SNP	ENST00000601241.1	37	c.212C>A	CCDS32989.1	.	.	.	.	.	.	.	.	.	.	G	5.919	0.353568	0.11182	.	.	ENSG00000205209	ENST00000379204	T	0.19250	2.16	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.34164	0.0888	.	.	.	0.09310	N	1	P	0.50943	0.94	P	0.59595	0.86	T	0.13818	-1.0495	7	0.87932	D	0	.	.	.	.	.	71	Q4G0G5	SCGBL_HUMAN	Y	71	ENSP00000368502:S71Y	ENSP00000368502:S71Y	S	-	2	0	SCGBL	39776954	0.001000	0.12720	0.188000	0.23233	0.190000	0.23558	0.170000	0.16663	0.132000	0.18615	0.134000	0.15878	TCC		PASS	0.547	SCGB2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461457.2	NM_001025591		6	104	6	104	---	---	---	---
HSPB6	126393	broad.mit.edu	37	19	36245203	36245203	+	IGR	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:36245203G>C	ENST00000592984.1	-	0	1634				AC002398.12_ENST00000587767.1_RNA|AC002398.9_ENST00000591613.2_3'UTR|LIN37_ENST00000301159.9_Missense_Mutation_p.W214C|AC002398.11_ENST00000591091.1_RNA			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)	p.W214C(1)		lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCAGCGCTGGAAACGCATCC	0.637																																						uc002obm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(640-642)TGG>TGC		lin-37 homolog							78.0	84.0	82.0					19																	36245203		2140	4244	6384	SO:0001628	intergenic_variant	55957						protein binding	g.chr19:36245203G>C	AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"""Heat shock proteins / HSPB"""	26511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 91"""	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36245203G>C						uc002obl.2_5'Flank	p.W214C	NM_019104	NP_061977	Q96GY3	LIN37_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		9	756	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		214					O14551|Q6NVI3|Q96MG9	Missense_Mutation	SNP	ENST00000592984.1	37	c.642G>C	CCDS12475.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894547	0.72639	.	.	ENSG00000188223	ENST00000301159	T	0.56941	0.43	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.76856	0.4046	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80580	-0.1319	10	0.87932	D	0	-15.5301	16.7495	0.85481	0.0:0.0:1.0:0.0	.	214	Q96GY3	LIN37_HUMAN	C	214	ENSP00000301159:W214C	ENSP00000301159:W214C	W	+	3	0	LIN37	40937043	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.195000	0.77798	2.695000	0.91970	0.655000	0.94253	TGG		PASS	0.637	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109498.3	NM_144617		23	103	23	103	---	---	---	---
NPHS1	4868	broad.mit.edu	37	19	36335228	36335228	+	Silent	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:36335228G>C	ENST00000378910.5	-	15	2063	c.2064C>G	c.(2062-2064)ctC>ctG	p.L688L	NPHS1_ENST00000353632.6_Silent_p.L688L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	688					cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.L688L(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACCTGGACTGAGGCGATAGC	0.697																																						uc002oby.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(2062-2064)CTC>CTG		nephrin precursor							22.0	25.0	24.0					19																	36335228		2200	4299	6499	SO:0001819	synonymous_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36335228G>C		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2064C>G	19.37:g.36335228G>C							p.L688L	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		15	2064	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		688			Extracellular (Potential).		A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	c.2064C>G	CCDS32996.1																																																																																				PASS	0.697	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			6	18	6	18	---	---	---	---
ZFP14	57677	broad.mit.edu	37	19	36832139	36832139	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:36832139C>T	ENST00000270001.7	-	5	704	c.589G>A	c.(589-591)Gag>Aag	p.E197K		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E197K(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TAAGGTTTCTCACCAGTATGA	0.428																																						uc002odx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(589-591)GAG>AAG		zinc finger protein 14-like							131.0	123.0	125.0					19																	36832139		2203	4300	6503	SO:0001583	missense	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36832139C>T	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.589G>A	19.37:g.36832139C>T	ENSP00000270001:p.Glu197Lys					ZFP14_uc010xtd.1_Missense_Mutation_p.E198K|ZFP14_uc010eex.1_Missense_Mutation_p.E197K	p.E197K	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN			4	682	-	Esophageal squamous(110;0.162)		197					A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	c.589G>A	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.017800	0.75161	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.24350	1.86	3.85	3.85	0.44370	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43416	D	0.000572	T	0.38161	0.1030	L	0.33710	1.025	0.80722	D	1	D;P	0.69078	0.997;0.705	D;P	0.70716	0.97;0.689	T	0.17899	-1.0354	10	0.46703	T	0.11	.	15.0414	0.71793	0.0:1.0:0.0:0.0	.	197;197	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	K	197	ENSP00000270001:E197K	ENSP00000270001:E197K	E	-	1	0	ZFP14	41523979	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.564000	0.67359	2.139000	0.66308	0.549000	0.68633	GAG		PASS	0.428	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		23	78	23	78	---	---	---	---
ZNF420	147923	broad.mit.edu	37	19	37619911	37619911	+	Missense_Mutation	SNP	A	A	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:37619911A>G	ENST00000337995.3	+	5	2233	c.2018A>G	c.(2017-2019)tAt>tGt	p.Y673C	ZNF420_ENST00000304239.7_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000586540.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	673					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y673C(1)		breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTTTTGAATATAAGGAATGT	0.378																																						uc002ofl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2017-2019)TAT>TGT		zinc finger protein 420							87.0	90.0	89.0					19																	37619911		2202	4300	6502	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37619911A>G	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.2018A>G	19.37:g.37619911A>G	ENSP00000338770:p.Tyr673Cys						p.Y673C	NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	2233	+			673					B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.2018A>G	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.368409	0.00209	.	.	ENSG00000197050	ENST00000337995	T	0.03772	3.81	4.14	-0.19	0.13256	.	.	.	.	.	T	0.00784	0.0026	N	0.00043	-2.465	0.29588	N	0.84868	B	0.02656	0.0	B	0.01281	0.0	T	0.45659	-0.9246	8	.	.	.	.	3.413	0.07365	0.3967:0.0:0.4066:0.1967	.	673	Q8TAQ5	ZN420_HUMAN	C	673	ENSP00000338770:Y673C	.	Y	+	2	0	ZNF420	42311751	.	.	0.369000	0.25952	0.662000	0.39071	.	.	0.029000	0.15352	0.533000	0.62120	TAT		PASS	0.378	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		11	36	11	36	---	---	---	---
SUPT5H	6829	broad.mit.edu	37	19	39950220	39950220	+	Silent	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:39950220C>G	ENST00000599117.1	+	10	913	c.546C>G	c.(544-546)gtC>gtG	p.V182V	SUPT5H_ENST00000432763.2_Silent_p.V182V|SUPT5H_ENST00000402194.2_Silent_p.V178V|SUPT5H_ENST00000359191.6_Silent_p.V178V|SUPT5H_ENST00000598725.1_Silent_p.V182V			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	182	Interaction with SUPT4H1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.V182V(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGTGGACTGTCAAATGTAAGG	0.557																																						uc002olo.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(544-546)GTC>GTG		suppressor of Ty 5 homolog isoform a							219.0	192.0	201.0					19																	39950220		2203	4300	6503	SO:0001819	synonymous_variant	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39950220C>G	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.546C>G	19.37:g.39950220C>G						SUPT5H_uc002olp.3_Silent_p.V182V|SUPT5H_uc002olq.3_Silent_p.V178V|SUPT5H_uc002oln.3_Silent_p.V182V|SUPT5H_uc002olr.3_Silent_p.V182V	p.V182V	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		9	725	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		182			Interaction with SUPT4H1.		O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	c.546C>G	CCDS12536.1																																																																																				PASS	0.557	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		37	81	37	81	---	---	---	---
TEX101	83639	broad.mit.edu	37	19	43922125	43922125	+	Silent	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:43922125C>A	ENST00000598265.1	+	5	653	c.487C>A	c.(487-489)Cga>Aga	p.R163R	TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Silent_p.R181R|TEX101_ENST00000602198.1_Silent_p.R181R	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	163	UPAR/Ly6.					acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R181R(1)		large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TGGTACAACTCGATGCTATCA	0.473																																						uc010xwo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(487-489)CGA>AGA		testis expressed 101 isoform 2							216.0	181.0	193.0					19																	43922125		2203	4300	6503	SO:0001819	synonymous_variant	83639					anchored to membrane|plasma membrane		g.chr19:43922125C>A	AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"""cancer/testis antigen 131"", ""spermatogenesis associated 44"""	612665	"""testis expressed sequence 101"""			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.487C>A	19.37:g.43922125C>A						TEX101_uc002owk.2_Silent_p.R181R	p.R163R	NM_001130011	NP_001123483	Q9BY14	TX101_HUMAN			5	682	+		Prostate(69;0.0199)	163					Q7L5R2|Q9BPY7	Silent	SNP	ENST00000598265.1	37	c.487C>A	CCDS59393.1																																																																																				PASS	0.473	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	NM_031451		5	83	5	83	---	---	---	---
TEX101	83639	broad.mit.edu	37	19	43922432	43922432	+	Missense_Mutation	SNP	T	T	A	rs372005194|rs375174329		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:43922432T>A	ENST00000598265.1	+	6	799	c.633T>A	c.(631-633)caT>caA	p.H211Q	TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Missense_Mutation_p.H229Q|TEX101_ENST00000602198.1_Missense_Mutation_p.H229Q	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	211	UPAR/Ly6.					acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.H229Q(1)		large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				CGTGCCCACATCAGCTGCTCA	0.532																																						uc010xwo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(631-633)CAT>CAA		testis expressed 101 isoform 2							124.0	117.0	119.0					19																	43922432		2203	4300	6503	SO:0001583	missense	83639					anchored to membrane|plasma membrane		g.chr19:43922432T>A	AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"""cancer/testis antigen 131"", ""spermatogenesis associated 44"""	612665	"""testis expressed sequence 101"""			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.633T>A	19.37:g.43922432T>A	ENSP00000472769:p.His211Gln					TEX101_uc002owk.2_Missense_Mutation_p.H229Q	p.H211Q	NM_001130011	NP_001123483	Q9BY14	TX101_HUMAN			6	828	+		Prostate(69;0.0199)	211					Q7L5R2|Q9BPY7	Missense_Mutation	SNP	ENST00000598265.1	37	c.633T>A	CCDS59393.1	.	.	.	.	.	.	.	.	.	.	T	8.945	0.966798	0.18659	.	.	ENSG00000131126	ENST00000253435;ENST00000407156	T	0.69926	-0.44	4.28	-8.04	0.01110	CD59 antigen (1);	1.994750	0.02461	N	0.086551	T	0.41351	0.1155	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.26326	-1.0106	10	0.28530	T	0.3	0.6718	8.3291	0.32175	0.0:0.4209:0.4111:0.1679	.	211;229	Q9BY14;Q9BY14-2	TX101_HUMAN;.	Q	229;224	ENSP00000253435:H229Q	ENSP00000253435:H229Q	H	+	3	2	TEX101	48614272	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.352000	0.02619	-1.579000	0.01646	-0.445000	0.05633	CAT		PASS	0.532	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	NM_031451		29	64	29	64	---	---	---	---
ZNF45	7596	broad.mit.edu	37	19	44418134	44418134	+	Nonsense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:44418134G>C	ENST00000269973.5	-	10	2544	c.1454C>G	c.(1453-1455)tCa>tGa	p.S485*	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Nonsense_Mutation_p.S485*	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	485					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S485*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ATTAAGATCTGAGCTCCGACT	0.502																																						uc002oxu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1453-1455)TCA>TGA		zinc finger protein 45							60.0	60.0	60.0					19																	44418134		2203	4300	6503	SO:0001587	stop_gained	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44418134G>C	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1454C>G	19.37:g.44418134G>C	ENSP00000269973:p.Ser485*					ZNF45_uc002oxw.1_Nonsense_Mutation_p.S485*|ZNF45_uc002oxv.1_Nonsense_Mutation_p.S485*	p.S485*	NM_003425	NP_003416	Q02386	ZNF45_HUMAN			4	1553	-			485			C2H2-type 12.		P17016|P78472|Q9P1U9	Nonsense_Mutation	SNP	ENST00000269973.5	37	c.1454C>G	CCDS12632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.410211|12.410211	0.99665|0.99665	.|.	.|.	ENSG00000124459|ENSG00000124459	ENST00000328762|ENST00000269973	.|.	.|.	.|.	3.62|3.62	3.62|3.62	0.41486|0.41486	.|.	.|0.000000	.|0.30704	.|N	.|0.009053	T|.	0.65595|.	0.2706|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.68834|.	-0.5304|.	5|.	0.72032|0.62326	D|D	0.01|0.03	-6.1441|-6.1441	10.5424|10.5424	0.45041|0.45041	0.0:0.0:0.8058:0.1942|0.0:0.0:0.8058:0.1942	.|.	.|.	.|.	.|.	E|X	485|485	.|.	ENSP00000367176:Q485E|ENSP00000269973:S485X	Q|S	-|-	1|2	0|0	ZNF45|ZNF45	49109974|49109974	0.001000|0.001000	0.12720|0.12720	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	0.889000|0.889000	0.28282|0.28282	2.030000|2.030000	0.59900|0.59900	0.462000|0.462000	0.41574|0.41574	CAG|TCA		PASS	0.502	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		11	36	11	36	---	---	---	---
ZNF229	7772	broad.mit.edu	37	19	44934257	44934257	+	Silent	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:44934257G>A	ENST00000588931.1	-	6	1132	c.699C>T	c.(697-699)ttC>ttT	p.F233F	ZNF229_ENST00000291187.4_Silent_p.F227F|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F233F(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTATTTCAGGGAATCTGTGAT	0.378																																						uc002oze.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(697-699)TTC>TTT		zinc finger protein 229							113.0	106.0	108.0					19																	44934257		1877	4103	5980	SO:0001819	synonymous_variant	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44934257G>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.699C>T	19.37:g.44934257G>A						ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.F227F	p.F233F	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			6	1133	-		Prostate(69;0.0352)	233					B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.699C>T	CCDS42574.1																																																																																				PASS	0.378	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		18	47	18	47	---	---	---	---
PPP1R13L	10848	broad.mit.edu	37	19	45885827	45885827	+	Silent	SNP	C	C	A	rs377743128		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:45885827C>A	ENST00000418234.2	-	12	2484	c.2406G>T	c.(2404-2406)gcG>gcT	p.A802A	PPP1R13L_ENST00000360957.5_Silent_p.A802A	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	802	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.A802A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGCCGTGCAGCGCGGCCCACC	0.697																																					Pancreas(61;1447 1663 31419 50578)	uc002pbn.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2404-2406)GCG>GCT		protein phosphatase 1, regulatory subunit 13							43.0	44.0	43.0					19																	45885827		2202	4300	6502	SO:0001819	synonymous_variant	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45885827C>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2406G>T	19.37:g.45885827C>A						PPP1R13L_uc002pbm.2_Silent_p.A381A|PPP1R13L_uc002pbo.2_Silent_p.A802A	p.A802A	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	12	2483	-		all_neural(266;0.224)|Ovarian(192;0.231)	802			SH3.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	ENST00000418234.2	37	c.2406G>T	CCDS33050.1																																																																																				PASS	0.697	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		11	28	11	28	---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48631193	48631193	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:48631193G>T	ENST00000263274.7	-	20	2325	c.1906C>A	c.(1906-1908)Caa>Aaa	p.Q636K	CTC-453G23.5_ENST00000596563.1_RNA|LIG1_ENST00000427526.2_Missense_Mutation_p.Q605K|LIG1_ENST00000536218.1_Missense_Mutation_p.Q568K|CTC-453G23.5_ENST00000596839.1_RNA	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	636					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.Q636K(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GTGAGCACTTGGAATGGCTGG	0.572								Nucleotide excision repair (NER)																														uc002pia.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(1)	3						c.(1906-1908)CAA>AAA	NER	DNA ligase I	Bleomycin(DB00290)						329.0	278.0	295.0					19																	48631193		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48631193G>T		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1906C>A	19.37:g.48631193G>T	ENSP00000263274:p.Gln636Lys					LIG1_uc010xze.1_Missense_Mutation_p.Q329K|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.Q568K|LIG1_uc010xzg.1_Missense_Mutation_p.Q605K	p.Q636K	NM_000234	NP_000225	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	20	2026	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	636					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.1906C>A	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094747	0.94197	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218	T;T;T	0.56275	0.47;0.47;0.47	5.16	5.16	0.70880	DNA ligase, ATP-dependent, central (1);	0.000000	0.85682	D	0.000000	D	0.82765	0.5108	H	0.97962	4.115	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.79108	0.992;0.922;0.971	D	0.89201	0.3557	10	0.87932	D	0	-14.1154	16.5377	0.84377	0.0:0.0:1.0:0.0	.	605;568;636	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	K	636;667;605;568	ENSP00000263274:Q636K;ENSP00000442841:Q605K;ENSP00000441531:Q568K	ENSP00000263274:Q636K	Q	-	1	0	LIG1	53323005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.988000	0.93501	2.575000	0.86900	0.561000	0.74099	CAA		PASS	0.572	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		8	181	8	181	---	---	---	---
HRC	3270	broad.mit.edu	37	19	49657014	49657014	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:49657014G>C	ENST00000252825.4	-	1	1667	c.1481C>G	c.(1480-1482)tCc>tGc	p.S494C	HRC_ENST00000595625.1_Missense_Mutation_p.S494C	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	494					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.S494C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TTCCTCATGGGAGCCGGGGTC	0.547																																					Melanoma(37;75 1097 24567 25669 30645)	uc002pmv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1480-1482)TCC>TGC		histidine rich calcium binding protein							129.0	116.0	121.0					19																	49657014		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657014G>C		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1481C>G	19.37:g.49657014G>C	ENSP00000252825:p.Ser494Cys						p.S494C	NM_002152	NP_002143	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1668	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	494					Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.1481C>G	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	G	7.685	0.689748	0.14973	.	.	ENSG00000130528	ENST00000252825;ENST00000391863	T	0.58940	0.3	2.63	2.63	0.31362	.	.	.	.	.	T	0.65491	0.2696	L	0.43923	1.385	0.09310	N	1	D	0.76494	0.999	D	0.77557	0.99	T	0.51156	-0.8741	9	0.59425	D	0.04	-3.9426	8.8912	0.35434	0.0:0.0:1.0:0.0	.	494	P23327	SRCH_HUMAN	C	494;193	ENSP00000252825:S494C	ENSP00000252825:S494C	S	-	2	0	HRC	54348826	0.213000	0.23551	0.056000	0.19401	0.103000	0.19146	1.337000	0.33862	1.799000	0.52666	0.462000	0.41574	TCC		PASS	0.547	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		8	53	8	53	---	---	---	---
ETFB	2109	broad.mit.edu	37	19	51857558	51857558	+	Missense_Mutation	SNP	C	C	A	rs369216610		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:51857558C>A	ENST00000309244.4	-	2	153	c.62G>T	c.(61-63)cGa>cTa	p.R21L	CTD-2616J11.9_ENST00000600974.1_RNA|CTD-2616J11.11_ENST00000600067.1_Silent_p.P40P|ETFB_ENST00000354232.4_Missense_Mutation_p.R112L	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	21					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)	p.R112L(1)		kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		AGGCTTCACTCGGATCTGCCC	0.627																																						uc002pwh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(61-63)CGA>CTA		electron-transfer-flavoprotein, beta polypeptide		C	LEU/ARG,LEU/ARG	1,4405	2.1+/-5.4	0,1,2202	81.0	68.0	72.0		335,62	5.2	1.0	19		72	0,8600		0,0,4300	no	missense,missense	ETFB	NM_001014763.1,NM_001985.2	102,102	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	112/347,21/256	51857558	1,13005	2203	4300	6503	SO:0001583	missense	2109				respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity	g.chr19:51857558C>A	X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.62G>T	19.37:g.51857558C>A	ENSP00000311930:p.Arg21Leu					ETFB_uc002pwg.2_Missense_Mutation_p.R112L	p.R21L	NM_001985	NP_001976	P38117	ETFB_HUMAN		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)	2	154	-		all_neural(266;0.0199)	21					A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Missense_Mutation	SNP	ENST00000309244.4	37	c.62G>T	CCDS12828.1	.	.	.	.	.	.	.	.	.	.	c	19.39	3.817849	0.71028	2.27E-4	0.0	ENSG00000105379	ENST00000309244;ENST00000354232	D;D	0.83250	-1.7;-1.7	5.22	5.22	0.72569	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.93539	0.7938	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.91635	0.865;0.999	D	0.95154	0.8275	10	0.87932	D	0	.	16.2702	0.82612	0.0:1.0:0.0:0.0	.	21;112	P38117;P38117-2	ETFB_HUMAN;.	L	21;112	ENSP00000311930:R21L;ENSP00000346173:R112L	ENSP00000311930:R21L	R	-	2	0	ETFB	56549370	1.000000	0.71417	0.992000	0.48379	0.158000	0.22134	6.509000	0.73725	2.456000	0.83038	0.651000	0.88453	CGA		PASS	0.627	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464273.1			4	58	4	58	---	---	---	---
ZNF28	7576	broad.mit.edu	37	19	53302992	53302992	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:53302992C>A	ENST00000457749.2	-	4	2225	c.2106G>T	c.(2104-2106)caG>caT	p.Q702H	ZNF28_ENST00000438150.2_Missense_Mutation_p.Q649H|ZNF28_ENST00000360272.4_Missense_Mutation_p.Q649H|ZNF28_ENST00000414252.2_Missense_Mutation_p.Q649H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	702					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q649H(2)|p.Q702H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GGTTTGACATCTGACTGAAGG	0.413																																						uc002qad.2																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(2104-2106)CAG>CAT		zinc finger protein 28							117.0	111.0	113.0					19																	53302992		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53302992C>A	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.2106G>T	19.37:g.53302992C>A	ENSP00000397693:p.Gln702His					ZNF28_uc002qac.2_Missense_Mutation_p.Q649H|ZNF28_uc010eqe.2_Missense_Mutation_p.Q648H	p.Q702H	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	4	2226	-			702			C2H2-type 18.		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.2106G>T	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	1.117	-0.656409	0.03480	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.05513	3.43;3.43;3.43;3.43	1.65	-3.3	0.05003	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02848	0.0085	N	0.16166	0.38	0.09310	N	1	B	0.27229	0.172	B	0.25759	0.063	T	0.41305	-0.9516	9	0.36615	T	0.2	.	1.0635	0.01605	0.1674:0.4359:0.1662:0.2305	.	702	P17035	ZNF28_HUMAN	H	649;702;649;649	ENSP00000412143:Q649H;ENSP00000397693:Q702H;ENSP00000353410:Q649H;ENSP00000444965:Q649H	ENSP00000353410:Q649H	Q	-	3	2	ZNF28	57994804	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-10.591000	0.00006	-1.254000	0.02485	-0.989000	0.02550	CAG		PASS	0.413	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		18	40	18	40	---	---	---	---
KIR3DX1	90011	broad.mit.edu	37	19	55045040	55045040	+	Missense_Mutation	SNP	C	C	T	rs372931579		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:55045040C>T	ENST00000335056.3	+	3	198	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W				Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	54	Ig-like C2-type 1.					extracellular region (GO:0005576)		p.R54W(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TTCCCATCTTCGGTTTGTCAT	0.537																																					Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)	uc010yfa.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1								Homo sapiens mRNA for FLJ00060 protein, partial cds.		C		0,4072		0,0,2036	83.0	84.0	84.0			-3.5	0.0	19		84	3,8385		0,3,4191	no	intergenic				0,3,6227	TT,TC,CC		0.0358,0.0,0.0241			55045040	3,12457	2036	4194	6230	SO:0001583	missense	90011							g.chr19:55045040C>T	BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.160C>T	19.37:g.55045040C>T	ENSP00000335388:p.Arg54Trp					KIR3DX1_uc010yfb.1_RNA|KIR3DX1_uc010yfc.1_RNA|KIR3DX1_uc010yfd.1_RNA		NR_026716					GBM - Glioblastoma multiforme(193;0.099)	3		+								B7WNL0|Q8N0S4	RNA	SNP	ENST00000335056.3	37	c.266C>T		.	.	.	.	.	.	.	.	.	.	C	12.97	2.096015	0.36952	0.0	3.58E-4	ENSG00000104970	ENST00000335056	T	0.12879	2.64	1.98	-3.51	0.04696	.	.	.	.	.	T	0.12944	0.0314	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37103	-0.9720	6	0.72032	D	0.01	.	4.9756	0.14138	0.0:0.4095:0.4202:0.1703	.	.	.	.	W	54	ENSP00000335388:R54W	ENSP00000221567:R54W	R	+	1	2	KIR3DX1	59736852	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.677000	0.05215	-0.494000	0.06669	-0.150000	0.13652	CGG		PASS	0.537	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000140800.2	NR_026716		7	53	7	53	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55349259	55349259	+	Intron	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:55349259G>A	ENST00000402254.2	+	6	1033				KIR2DS4_ENST00000339924.8_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.C100Y(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ACCTACAGATGCTACGGTTCT	0.507																																						uc002qhm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(298-300)TGC>TAC		killer cell immunoglobulin-like receptor, two							360.0	302.0	322.0					19																	55349259		2177	4198	6375	SO:0001627	intron_variant	3809					integral to plasma membrane	receptor activity	g.chr19:55349259G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000402254.2:c.1000+12726G>A	19.37:g.55349259G>A						KIR2DS4_uc010yfj.1_Missense_Mutation_p.C93Y|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Missense_Mutation_p.C100Y|KIR2DS4_uc002qhn.1_Missense_Mutation_p.C47Y	p.C100Y	NM_012314	NP_036446	P43632	KI2S4_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	345	+			100			Extracellular (Potential).|Ig-like C2-type 1.		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000402254.2	37	c.299G>A																																																																																					PASS	0.507	KIR3DL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_013289		73	252	73	252	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56370258	56370258	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:56370258G>T	ENST00000301295.6	+	3	1921	c.1499G>T	c.(1498-1500)gGg>gTg	p.G500V	NLRP4_ENST00000587891.1_Missense_Mutation_p.G425V|NLRP4_ENST00000346986.5_Missense_Mutation_p.G500V	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	500					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.G500V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATTTTTTTGGGGTGTTTTCTA	0.408																																						uc002qmd.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(1498-1500)GGG>GTG		NLR family, pyrin domain containing 4							112.0	119.0	117.0					19																	56370258		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56370258G>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1499G>T	19.37:g.56370258G>T	ENSP00000301295:p.Gly500Val					NLRP4_uc002qmf.2_Missense_Mutation_p.G425V|NLRP4_uc010etf.2_Missense_Mutation_p.G331V	p.G500V	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1921	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	500					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.1499G>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953520	0.34471	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.83992	-1.79;-1.79	4.24	1.88	0.25563	.	.	.	.	.	D	0.83788	0.5330	L	0.41824	1.3	0.19575	N	0.999961	D;D;D	0.89917	0.983;1.0;1.0	P;D;D	0.97110	0.749;1.0;0.999	T	0.70583	-0.4832	9	0.22706	T	0.39	.	6.5679	0.22523	0.0:0.2019:0.5896:0.2085	.	500;425;500	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	V	500	ENSP00000301295:G500V;ENSP00000344787:G500V	ENSP00000301295:G500V	G	+	2	0	NLRP4	61062070	0.002000	0.14202	0.009000	0.14445	0.004000	0.04260	0.757000	0.26433	1.094000	0.41399	0.655000	0.94253	GGG		PASS	0.408	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		48	75	48	75	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56390162	56390162	+	Missense_Mutation	SNP	T	T	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:56390162T>G	ENST00000301295.6	+	9	3121	c.2699T>G	c.(2698-2700)tTg>tGg	p.L900W	NLRP4_ENST00000587891.1_Missense_Mutation_p.L825W|NLRP4_ENST00000346986.5_Missense_Mutation_p.L844W	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	900					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.L900W(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TATTGCAGGTTGGAAGAATGT	0.532																																						uc002qmd.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(2698-2700)TTG>TGG		NLR family, pyrin domain containing 4							100.0	80.0	87.0					19																	56390162		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56390162T>G	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2699T>G	19.37:g.56390162T>G	ENSP00000301295:p.Leu900Trp					NLRP4_uc002qmf.2_Missense_Mutation_p.L825W|NLRP4_uc010etf.2_Missense_Mutation_p.L675W	p.L900W	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	9	3121	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	900					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2699T>G	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.752805	0.49362	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.74737	-0.55;-0.87	3.68	3.68	0.42216	.	.	.	.	.	D	0.88829	0.6543	H	0.95187	3.635	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.79032	-0.1969	9	0.66056	D	0.02	.	8.9247	0.35632	0.0:0.0:0.0:1.0	.	844;825;900	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	W	900;844	ENSP00000301295:L900W;ENSP00000344787:L844W	ENSP00000301295:L900W	L	+	2	0	NLRP4	61081974	0.685000	0.27652	0.026000	0.17262	0.090000	0.18270	3.504000	0.53347	1.672000	0.50884	0.477000	0.44152	TTG		PASS	0.532	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		9	18	9	18	---	---	---	---
ESF1	51575	broad.mit.edu	37	20	13756704	13756704	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr20:13756704C>A	ENST00000202816.1	-	3	957	c.850G>T	c.(850-852)Gag>Tag	p.E284*		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	284	Asp-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E284*(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						tcttcatcctcctcttcatct	0.403																																						uc002woj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(850-852)GAG>TAG		ABT1-associated protein							272.0	211.0	231.0					20																	13756704		2203	4300	6503	SO:0001587	stop_gained	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13756704C>A		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.850G>T	20.37:g.13756704C>A	ENSP00000202816:p.Glu284*					ESF1_uc002wok.1_Nonsense_Mutation_p.E284*	p.E284*	NM_016649	NP_057733	Q9H501	ESF1_HUMAN			3	958	-			284			Asp-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Nonsense_Mutation	SNP	ENST00000202816.1	37	c.850G>T	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097580	0.94197	.	.	ENSG00000089048	ENST00000202816	.	.	.	4.15	4.15	0.48705	.	0.889043	0.09868	N	0.745239	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	10.2298	0.43247	0.0:0.9:0.0:0.1	.	.	.	.	X	284	.	ENSP00000202816:E284X	E	-	1	0	ESF1	13704704	0.803000	0.28956	0.021000	0.16686	0.182000	0.23217	2.270000	0.43355	2.273000	0.75805	0.591000	0.81541	GAG		PASS	0.403	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		13	30	13	30	---	---	---	---
PCSK2	5126	broad.mit.edu	37	20	17208026	17208026	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr20:17208026G>C	ENST00000262545.2	+	1	391	c.76G>C	c.(76-78)Gag>Cag	p.E26Q	PCSK2_ENST00000377899.1_Missense_Mutation_p.E7Q|PCSK2_ENST00000536609.1_Missense_Mutation_p.E26Q	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	26					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.E26Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGCATCTGCTGAGCGACCGGT	0.527																																						uc002wpm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7						c.(76-78)GAG>CAG		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						111.0	103.0	106.0					20																	17208026		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17208026G>C	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.76G>C	20.37:g.17208026G>C	ENSP00000262545:p.Glu26Gln					PCSK2_uc002wpl.2_Missense_Mutation_p.E7Q|PCSK2_uc010zrm.1_Missense_Mutation_p.E26Q	p.E26Q	NM_002594	NP_002585	P16519	NEC2_HUMAN			1	396	+			26					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.76G>C	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.313023	0.23908	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.73258	-0.37;-0.38;-0.73	5.63	4.68	0.58851	.	0.176321	0.49916	D	0.000137	T	0.59636	0.2208	L	0.39147	1.195	0.31026	N	0.717925	B;B	0.14012	0.002;0.009	B;B	0.18263	0.001;0.021	T	0.56056	-0.8042	10	0.15952	T	0.53	-27.3555	12.343	0.55105	0.0817:0.0:0.9183:0.0	.	26;26	B4DFQ3;P16519	.;NEC2_HUMAN	Q	7;26;26	ENSP00000367131:E7Q;ENSP00000262545:E26Q;ENSP00000437458:E26Q	ENSP00000262545:E26Q	E	+	1	0	PCSK2	17156026	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	2.728000	0.47319	1.395000	0.46643	0.655000	0.94253	GAG		PASS	0.527	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		17	64	17	64	---	---	---	---
SUN5	140732	broad.mit.edu	37	20	31577469	31577469	+	Missense_Mutation	SNP	G	G	T	rs150666576		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr20:31577469G>T	ENST00000356173.3	-	9	662	c.570C>A	c.(568-570)caC>caA	p.H190Q	SUN5_ENST00000375523.3_Missense_Mutation_p.H165Q	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	190					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.H190Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TGTAATCTCCGTGTATCATCT	0.488																																						uc002wyi.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(568-570)CAC>CAA		sperm associated antigen 4-like							229.0	173.0	192.0					20																	31577469		2203	4300	6503	SO:0001583	missense	140732				spermatogenesis			g.chr20:31577469G>T	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.570C>A	20.37:g.31577469G>T	ENSP00000348496:p.His190Gln						p.H190Q	NM_080675	NP_542406	Q8TC36	SUN5_HUMAN			9	663	-			190					A6NJ82|Q5T9R0	Missense_Mutation	SNP	ENST00000356173.3	37	c.570C>A	CCDS13209.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.998914	0.00435	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	T;T	0.10477	2.87;2.88	5.75	-2.53	0.06326	.	0.659373	0.15111	N	0.279964	T	0.01905	0.0060	N	0.01048	-1.04	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44190	-0.9344	10	0.07175	T	0.84	-6.875	0.6948	0.00897	0.3721:0.1466:0.1297:0.3516	.	190	Q8TC36	SUN5_HUMAN	Q	190;165	ENSP00000348496:H190Q;ENSP00000364673:H165Q	ENSP00000348496:H190Q	H	-	3	2	SUN5	31041130	0.856000	0.29760	0.478000	0.27316	0.188000	0.23474	-0.501000	0.06398	-0.782000	0.04541	-2.197000	0.00309	CAC		PASS	0.488	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		14	43	14	43	---	---	---	---
CDK5RAP1	51654	broad.mit.edu	37	20	31967387	31967387	+	Silent	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr20:31967387G>T	ENST00000357886.4	-	9	1182	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000473997.1_Silent_p.T239T|CDK5RAP1_ENST00000346416.2_Silent_p.T329T|CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000544843.1_Silent_p.T329T			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	343					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)	p.T329T(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						TTTTATAGTTGGTGGTAAAGC	0.463																																						uc010gek.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(1027-1029)ACC>ACA		CDK5 regulatory subunit associated protein 1							118.0	120.0	119.0					20																	31967387		2203	4300	6503	SO:0001819	synonymous_variant	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31967387G>T	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1029C>A	20.37:g.31967387G>T						CDK5RAP1_uc002wyy.2_Silent_p.T239T|CDK5RAP1_uc002wyz.2_Silent_p.T329T|CDK5RAP1_uc002wza.2_Silent_p.T329T|CDK5RAP1_uc010gel.2_Silent_p.T238T|CDK5RAP1_uc010gem.2_Intron|CDK5RAP1_uc002wzc.1_Silent_p.T329T	p.T343T	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN			9	1153	-			343					A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Silent	SNP	ENST00000357886.4	37	c.1029C>A																																																																																					PASS	0.463	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		5	46	5	46	---	---	---	---
PHF20	51230	broad.mit.edu	37	20	34459591	34459591	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr20:34459591G>T	ENST00000374012.3	+	9	1251	c.1122G>T	c.(1120-1122)ttG>ttT	p.L374F	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	374					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L374F(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AGTCTGCTTTGGAAGCTGGCC	0.448																																						uc002xek.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1120-1122)TTG>TTT		PHD finger protein 20							96.0	99.0	98.0					20																	34459591		2203	4300	6503	SO:0001583	missense	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34459591G>T	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1122G>T	20.37:g.34459591G>T	ENSP00000363124:p.Leu374Phe					PHF20_uc002xei.1_Missense_Mutation_p.L374F|PHF20_uc010gfo.1_Missense_Mutation_p.L374F|PHF20_uc002xej.1_Missense_Mutation_p.L258F	p.L374F	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			9	1233	+	Breast(12;0.00631)|all_lung(11;0.0145)		374					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	c.1122G>T	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	G	8.377	0.836671	0.16891	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.46451	1.46;0.87;0.87	5.09	3.05	0.35203	.	0.642867	0.15532	N	0.257457	T	0.27900	0.0687	L	0.29908	0.895	0.80722	D	1	B;B	0.19583	0.011;0.037	B;B	0.12837	0.006;0.008	T	0.11916	-1.0568	10	0.46703	T	0.11	.	6.1989	0.20565	0.1025:0.2052:0.6924:0.0	.	374;374	Q9BVI0;Q66K49	PHF20_HUMAN;.	F	374	ENSP00000363124:L374F;ENSP00000341900:L374F;ENSP00000363112:L374F	ENSP00000341900:L374F	L	+	3	2	PHF20	33923005	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	1.970000	0.40520	1.369000	0.46134	0.591000	0.81541	TTG		PASS	0.448	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		6	107	6	107	---	---	---	---
C20orf24	55969	broad.mit.edu	37	20	35240420	35240420	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr20:35240420G>T	ENST00000373852.5	+	4	519	c.384G>T	c.(382-384)ttG>ttT	p.L128F	C20orf24_ENST00000342422.3_Nonsense_Mutation_p.G76*|C20orf24_ENST00000344795.3_Missense_Mutation_p.W119L|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.W145L			Q9BUV8	CT024_HUMAN	chromosome 20 open reading frame 24	128				LFMVCVADSFTTGHLDHLLHCHPL -> IVHGHLLLLFTSH PYSMMVSDSK (in Ref. 6; AAB50849). {ECO:0000305}.				p.W119L(1)|p.G76*(1)		breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TAGGTCATTTGGATCATCTTT	0.463																																						uc002xfq.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)		0						c.(355-357)TGG>TTG		RAB5-interacting protein isoform a							246.0	230.0	236.0					20																	35240420		2203	4300	6503	SO:0001583	missense	55969						protein binding	g.chr20:35240420G>T	AF112213	CCDS13279.1, CCDS13280.1, CCDS56190.1	20q11.23	2011-01-25			ENSG00000101084	ENSG00000101084			15870	protein-coding gene	gene with protein product						15178406	Standard	NM_018840		Approved	PNAS-11, RIP5		Q9BUV8	OTTHUMG00000032384	ENST00000373852.5:c.384G>T	20.37:g.35240420G>T	ENSP00000362958:p.Leu128Phe					C20orf24_uc002xfo.2_Missense_Mutation_p.W145L|C20orf24_uc002xfp.2_3'UTR|C20orf24_uc002xft.2_RNA|C20orf24_uc002xfr.2_Nonsense_Mutation_p.G76*|C20orf24_uc002xfs.2_Missense_Mutation_p.L128F	p.W119L	NM_018840	NP_061328	Q9BUV8	CT024_HUMAN			4	544	+	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)	119	LFMVCVADSFTTGHLDHLLHCHPL -> IVHGHLLLLFTSH PYSMMVSDSK (in Ref. 6; AAB50849).				E1P5U0|O00605|Q5QPG6|Q5QPG7|Q9BT03|Q9BZU7|Q9UI05	Missense_Mutation	SNP	ENST00000373852.5	37	c.356G>T	CCDS56190.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	36|36|36	5.601886|5.601886|5.601886	0.96614|0.96614|0.96614	.|.|.	.|.|.	ENSG00000101084|ENSG00000101084|ENSG00000101084	ENST00000342422|ENST00000373852|ENST00000344795	.|.|.	.|.|.	.|.|.	6.04|6.04|6.04	6.04|6.04|6.04	0.98038|0.98038|0.98038	.|.|.	0.225560|.|.	0.30201|.|.	N|.|.	0.010177|.|.	.|T|T	.|0.41419|0.41419	.|0.1158|0.1158	N|N|N	0.05177|0.05177|0.05177	-0.1|-0.1|-0.1	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B|B	.|0.06786|0.13594	.|0.001|0.008	.|B|B	.|0.01281|0.17979	.|0.0|0.02	.|T|T	.|0.29761|0.29761	.|-1.0001|-1.0001	.|8|8	0.72032|0.05525|0.56958	D|T|D	0.01|0.97|0.05	-22.7344|-22.7344|-22.7344	18.073|18.073|18.073	0.89417|0.89417|0.89417	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|128|119	.|Q9BUV8|Q9BUV8-2	.|CT024_HUMAN|.	X|F|L	76|128|119	.|.|.	ENSP00000341213:G76X|ENSP00000362958:L128F|ENSP00000340164:W119L	G|L|W	+|+|+	1|3|2	0|2|0	C20orf24|C20orf24|C20orf24	34673834|34673834|34673834	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.975000|0.975000|0.975000	0.68041|0.68041|0.68041	8.620000|8.620000|8.620000	0.90943|0.90943|0.90943	2.873000|2.873000|2.873000	0.98535|0.98535|0.98535	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GGA|TTG|TGG		PASS	0.463	C20orf24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079006.1	NM_018840		8	209	8	209	---	---	---	---
SOGA1	140710	broad.mit.edu	37	20	35443568	35443568	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr20:35443568C>A	ENST00000357779.3	-	5	1889	c.1563G>T	c.(1561-1563)aaG>aaT	p.K521N	SOGA1_ENST00000279034.6_Missense_Mutation_p.K521N|SOGA1_ENST00000456801.2_Missense_Mutation_p.K362N|SOGA1_ENST00000237536.4_Missense_Mutation_p.K759N			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	521					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.K759N(3)|p.K521N(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GAAGAATCTCCTTAGAGAGCC	0.488																																						uc002xgd.1																			4	Substitution - Missense(4)		lung(4)		0						c.(1561-1563)AAG>AAT		hypothetical protein LOC140710 isoform 2							100.0	107.0	105.0					20																	35443568		1966	4153	6119	SO:0001583	missense	140710							g.chr20:35443568C>A	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1563G>T	20.37:g.35443568C>A	ENSP00000350424:p.Lys521Asn					C20orf117_uc002xge.1_RNA	p.K521N	NM_199181	NP_954650	O94964	K0889_HUMAN			5	1890	-		Myeloproliferative disorder(115;0.00874)	521					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.1563G>T		.	.	.	.	.	.	.	.	.	.	C	11.41	1.632014	0.29068	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.19105	2.18;2.17;2.18;2.18	5.2	3.28	0.37604	.	0.725911	0.14077	N	0.342983	T	0.29321	0.0730	L	0.44542	1.39	0.35981	D	0.836027	D	0.63880	0.993	P	0.61592	0.891	T	0.20273	-1.0280	10	0.24483	T	0.36	-49.3623	6.9192	0.24378	0.0:0.728:0.0:0.272	.	521	O94964-4	.	N	759;521;362;521	ENSP00000237536:K759N;ENSP00000279034:K521N;ENSP00000413886:K362N;ENSP00000350424:K521N	ENSP00000237536:K759N	K	-	3	2	KIAA0889	34876982	0.999000	0.42202	1.000000	0.80357	0.418000	0.31294	0.459000	0.21908	0.784000	0.33661	-0.258000	0.10820	AAG		PASS	0.488	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		8	150	8	150	---	---	---	---
SEMG2	6407	broad.mit.edu	37	20	43851673	43851673	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr20:43851673C>A	ENST00000372769.3	+	2	1490	c.1400C>A	c.(1399-1401)tCa>tAa	p.S467*		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	467	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.S467*(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AATAAAATGTCATACCAATCT	0.368																																						uc010ggz.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1399-1401)TCA>TAA		semenogelin II precursor							77.0	77.0	77.0					20																	43851673		2203	4300	6503	SO:0001587	stop_gained	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851673C>A		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1400C>A	20.37:g.43851673C>A	ENSP00000361855:p.Ser467*					SEMG2_uc002xnk.2_Nonsense_Mutation_p.S467*|SEMG2_uc002xnl.2_Intron	p.S467*	NM_003008	NP_002999	Q02383	SEMG2_HUMAN			2	1457	+		Myeloproliferative disorder(115;0.0122)	467			Repeat-rich region.|4 X 60 AA tandem repeats, type I.		Q53ZU2|Q6X2M5|Q6X2M6	Nonsense_Mutation	SNP	ENST00000372769.3	37	c.1400C>A	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587031	0.46110	.	.	ENSG00000124157	ENST00000372769	.	.	.	1.38	-2.33	0.06724	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.0927	0.03660	0.4432:0.336:0.0:0.2208	.	.	.	.	X	467	.	ENSP00000361855:S467X	S	+	2	0	SEMG2	43285087	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.109000	0.03309	-0.674000	0.05253	0.655000	0.94253	TCA		PASS	0.368	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		24	37	24	37	---	---	---	---
ZSWIM3	140831	broad.mit.edu	37	20	44505923	44505923	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr20:44505923G>T	ENST00000255152.2	+	2	935	c.726G>T	c.(724-726)aaG>aaT	p.K242N	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.K236N	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	242							zinc ion binding (GO:0008270)	p.K242N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TGGAGAACAAGGAACGAGAAA	0.527																																						uc002xqd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(724-726)AAG>AAT		zinc finger, SWIM domain containing 3							74.0	73.0	73.0					20																	44505923		2203	4300	6503	SO:0001583	missense	140831						zinc ion binding	g.chr20:44505923G>T	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.726G>T	20.37:g.44505923G>T	ENSP00000255152:p.Lys242Asn					ZSWIM3_uc010zxg.1_Missense_Mutation_p.K236N	p.K242N	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN			2	929	+		Myeloproliferative disorder(115;0.0122)	242					Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	37	c.726G>T	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790402	0.50102	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.29142	1.58;1.58	5.49	4.55	0.56014	MULE transposase domain (1);	0.144110	0.48767	D	0.000165	T	0.42063	0.1186	L	0.51422	1.61	0.38858	D	0.956427	D;D	0.63880	0.993;0.993	D;D	0.71414	0.973;0.973	T	0.35450	-0.9788	10	0.11794	T	0.64	-22.9061	9.5977	0.39584	0.2157:0.0:0.7843:0.0	.	236;242	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	N	242;236	ENSP00000255152:K242N;ENSP00000406313:K236N	ENSP00000255152:K242N	K	+	3	2	ZSWIM3	43939330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.166000	0.31834	1.562000	0.49601	0.655000	0.94253	AAG		PASS	0.527	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		6	70	6	70	---	---	---	---
ZNF335	63925	broad.mit.edu	37	20	44586512	44586512	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr20:44586512G>C	ENST00000322927.2	-	16	2409	c.2309C>G	c.(2308-2310)tCt>tGt	p.S770C	ZNF335_ENST00000426788.1_Missense_Mutation_p.S615C	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	770					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)	p.S770C(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CAGGGTGTCAGAACAGAGCAA	0.597																																						uc002xqw.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(2308-2310)TCT>TGT		zinc finger protein 335							99.0	95.0	96.0					20																	44586512		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44586512G>C	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2309C>G	20.37:g.44586512G>C	ENSP00000325326:p.Ser770Cys					ZNF335_uc010zxk.1_Missense_Mutation_p.S615C	p.S770C	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			16	2432	-		Myeloproliferative disorder(115;0.0122)	770					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.2309C>G	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094711	0.36952	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.09073	3.15;3.02	4.86	4.86	0.63082	.	0.469539	0.21489	N	0.073718	T	0.05364	0.0142	N	0.08118	0	0.09310	N	1	P;P	0.49447	0.924;0.464	B;B	0.42555	0.391;0.219	T	0.30387	-0.9980	10	0.66056	D	0.02	-0.0741	10.6825	0.45823	0.0:0.0:0.7953:0.2047	.	615;770	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	C	770;547;615	ENSP00000325326:S770C;ENSP00000397098:S615C	ENSP00000243961:S547C	S	-	2	0	ZNF335	44019919	0.473000	0.25878	0.989000	0.46669	0.741000	0.42261	4.235000	0.58666	2.528000	0.85240	0.563000	0.77884	TCT		PASS	0.597	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		22	63	22	63	---	---	---	---
SLC13A3	64849	broad.mit.edu	37	20	45192078	45192078	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr20:45192078G>T	ENST00000279027.4	-	12	1625	c.1607C>A	c.(1606-1608)tCt>tAt	p.S536Y	SLC13A3_ENST00000413164.2_Missense_Mutation_p.S486Y|SLC13A3_ENST00000396360.1_Missense_Mutation_p.S454Y|SLC13A3_ENST00000435032.1_Missense_Mutation_p.S121Y|SLC13A3_ENST00000290317.5_Missense_Mutation_p.S489Y|SLC13A3_ENST00000495082.1_Missense_Mutation_p.S489Y|SLC13A3_ENST00000472148.1_Missense_Mutation_p.S454Y	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	536					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.S536Y(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CAAGTGTCCAGAGGCGAAGGC	0.622																																						uc002xsf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1606-1608)TCT>TAT		solute carrier family 13 member 3 isoform a	Succinic acid(DB00139)						44.0	40.0	41.0					20																	45192078		2203	4300	6503	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45192078G>T	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1607C>A	20.37:g.45192078G>T	ENSP00000279027:p.Ser536Tyr					SLC13A3_uc010ghn.1_Missense_Mutation_p.S505Y|SLC13A3_uc010zxw.1_Missense_Mutation_p.S486Y|SLC13A3_uc002xsg.1_Missense_Mutation_p.S489Y|SLC13A3_uc010gho.1_Missense_Mutation_p.S454Y|SLC13A3_uc010zxx.1_Missense_Mutation_p.S438Y|SLC13A3_uc002xse.1_Missense_Mutation_p.S27Y|SLC13A3_uc010ghm.1_Missense_Mutation_p.S123Y|SLC13A3_uc010zxv.1_Missense_Mutation_p.S121Y	p.S536Y	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN			12	1645	-		Myeloproliferative disorder(115;0.0122)	536			Cytoplasmic (Potential).		B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	c.1607C>A	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712373	0.30322	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000435032;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082	T;T;T;T;T;T;T	0.03181	4.02;4.02;4.02;4.02;4.02;4.02;4.02	5.36	5.36	0.76844	.	0.177988	0.51477	D	0.000088	T	0.09512	0.0234	L	0.33753	1.03	0.80722	D	1	B;D;P;B;B;D	0.76494	0.399;0.998;0.545;0.138;0.45;0.999	B;D;B;B;B;D	0.74348	0.34;0.983;0.325;0.085;0.33;0.975	T	0.18366	-1.0339	10	0.02654	T	1	-9.1489	19.0927	0.93233	0.0:0.0:1.0:0.0	.	486;121;454;489;438;536	B4DIR8;B4E181;Q8WWT9-3;F6WI18;B4DF27;Q8WWT9	.;.;.;.;.;S13A3_HUMAN	Y	489;454;121;536;454;486;489	ENSP00000290317:S489Y;ENSP00000379648:S454Y;ENSP00000403394:S121Y;ENSP00000279027:S536Y;ENSP00000420177:S454Y;ENSP00000415852:S486Y;ENSP00000419621:S489Y	ENSP00000279027:S536Y	S	-	2	0	SLC13A3	44625485	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.445000	0.73456	2.514000	0.84764	0.561000	0.74099	TCT		PASS	0.622	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			5	38	5	38	---	---	---	---
KCNG1	3755	broad.mit.edu	37	20	49626715	49626715	+	Missense_Mutation	SNP	T	T	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr20:49626715T>A	ENST00000371571.4	-	2	446	c.161A>T	c.(160-162)cAg>cTg	p.Q54L	KCNG1_ENST00000506387.1_5'Flank|KCNG1_ENST00000396017.3_Missense_Mutation_p.Q54L|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	54					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.Q54L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CTGACAGCCCTGGCGGGGCTC	0.706																																						uc002xwa.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(160-162)CAG>CTG		potassium voltage-gated channel, subfamily G,							25.0	28.0	27.0					20																	49626715		2203	4298	6501	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49626715T>A	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.161A>T	20.37:g.49626715T>A	ENSP00000360626:p.Gln54Leu					KCNG1_uc002xwb.2_Missense_Mutation_p.Q54L	p.Q54L	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN			2	456	-			54			Cytoplasmic (Potential).		A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.161A>T	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	T	3.110	-0.182928	0.06340	.	.	ENSG00000026559	ENST00000371571;ENST00000396017;ENST00000439216;ENST00000424171;ENST00000433903	D;D;D;D	0.97888	-4.59;-2.67;-3.24;-3.55	5.52	-1.41	0.08941	.	0.967889	0.08589	N	0.923319	D	0.95554	0.8555	L	0.47716	1.5	0.09310	N	1	B;B	0.19200	0.0;0.034	B;B	0.20184	0.0;0.028	D	0.84474	0.0601	9	.	.	.	.	16.0849	0.81038	0.0:0.0:0.5578:0.4422	.	54;54	Q9UIX4-2;Q9UIX4	.;KCNG1_HUMAN	L	54	ENSP00000360626:Q54L;ENSP00000379338:Q54L;ENSP00000394075:Q54L;ENSP00000394093:Q54L	.	Q	-	2	0	KCNG1	49060122	0.001000	0.12720	0.002000	0.10522	0.023000	0.10783	0.277000	0.18734	-0.557000	0.06126	-0.501000	0.04562	CAG		PASS	0.706	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		7	8	7	8	---	---	---	---
RAE1	8480	broad.mit.edu	37	20	55953067	55953067	+	Splice_Site	SNP	A	A	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr20:55953067A>G	ENST00000395841.2	+	12	1440		c.e12-1		RAE1_ENST00000395840.2_Splice_Site|RAE1_ENST00000371242.2_Splice_Site	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1						carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|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 export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)	p.?(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			TGCTCTCTTTAGGGACATGAA	0.373																																						uc002xyg.2																			1	Unknown(1)		lung(1)		0						c.e12-2		RAE1 (RNA export 1, S.pombe) homolog							45.0	45.0	45.0					20																	55953067		2202	4300	6502	SO:0001630	splice_region_variant	8480				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	g.chr20:55953067A>G	U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"""WD repeat domain containing"""	9828	protein-coding gene	gene with protein product		603343	"""RAE1 (RNA export 1, S.pombe) homolog"", ""RAE1 RNA export 1 homolog (S. pombe)"""			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.1021-1A>G	20.37:g.55953067A>G						RAE1_uc002xyh.2_Splice_Site_p.G341_splice|RAE1_uc002xyi.2_Splice_Site_p.G341_splice	p.G341_splice	NM_003610	NP_003601	P78406	RAE1L_HUMAN	BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)		12	1362	+	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)							A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Splice_Site	SNP	ENST00000395841.2	37	c.1021_splice	CCDS13458.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.628249	0.66901	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000395840	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8248	0.78690	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAE1	55386474	1.000000	0.71417	0.986000	0.45419	0.696000	0.40369	9.028000	0.93712	2.140000	0.66376	0.459000	0.35465	.		PASS	0.373	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2		Intron	11	33	11	33	---	---	---	---
PHACTR3	116154	broad.mit.edu	37	20	58322835	58322835	+	Silent	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr20:58322835C>A	ENST00000371015.1	+	3	770	c.303C>A	c.(301-303)ggC>ggA	p.G101G	PHACTR3_ENST00000395636.2_Silent_p.G60G|PHACTR3_ENST00000395639.4_Silent_p.G60G|PHACTR3_ENST00000541461.1_Silent_p.G60G|PHACTR3_ENST00000359926.3_Silent_p.G98G|PHACTR3_ENST00000355648.4_Silent_p.G60G|PHACTR3_ENST00000361300.4_Silent_p.G60G	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	101						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.G101G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AGATGGCCGGCAGGCAAGGCC	0.607																																						uc002yau.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(301-303)GGC>GGA		phosphatase and actin regulator 3 isoform 1							148.0	134.0	139.0					20																	58322835		2203	4300	6503	SO:0001819	synonymous_variant	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58322835C>A	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.303C>A	20.37:g.58322835C>A						PHACTR3_uc002yat.2_Silent_p.G98G|PHACTR3_uc010zzw.1_Silent_p.G60G|PHACTR3_uc002yav.2_Silent_p.G60G|PHACTR3_uc002yaw.2_Silent_p.G60G|PHACTR3_uc002yax.2_Silent_p.G60G	p.G101G	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		3	770	+	all_lung(29;0.00344)		101			RPEL 1.		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Silent	SNP	ENST00000371015.1	37	c.303C>A	CCDS13480.1																																																																																				PASS	0.607	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		45	61	45	61	---	---	---	---
TAF4	6874	broad.mit.edu	37	20	60582658	60582658	+	Missense_Mutation	SNP	C	C	A	rs149456775		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr20:60582658C>A	ENST00000252996.4	-	6	1918	c.1919G>T	c.(1918-1920)aGg>aTg	p.R640M	TAF4_ENST00000609045.1_5'Flank	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	640	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R640M(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCGGTATAACCTGCTTGTGAA	0.438																																						uc002ybs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1918-1920)AGG>ATG		TBP-associated factor 4							194.0	199.0	197.0					20																	60582658		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60582658C>A	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1919G>T	20.37:g.60582658C>A	ENSP00000252996:p.Arg640Met						p.R640M	NM_003185	NP_003176	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		6	1919	-	Breast(26;1e-08)		640			TAFH.		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.1919G>T	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917245	0.92249	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.49139	0.79;0.79	5.5	5.5	0.81552	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.69187	0.3083	M	0.68593	2.085	0.80722	D	1	D	0.69078	0.997	D	0.87578	0.998	T	0.71237	-0.4652	10	0.72032	D	0.01	-20.9934	19.366	0.94461	0.0:1.0:0.0:0.0	.	640	O00268	TAF4_HUMAN	M	640;504	ENSP00000252996:R640M;ENSP00000399091:R504M	ENSP00000252996:R640M	R	-	2	0	TAF4	60016053	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.575000	0.82447	2.571000	0.86741	0.655000	0.94253	AGG		PASS	0.438	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		9	199	9	199	---	---	---	---
LIPI	149998	broad.mit.edu	37	21	15537643	15537643	+	Missense_Mutation	SNP	A	A	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr21:15537643A>T	ENST00000536861.1	-	6	801	c.802T>A	c.(802-804)Tgc>Agc	p.C268S	LIPI_ENST00000344577.2_Missense_Mutation_p.C289S			Q6XZB0	LIPI_HUMAN	lipase, member I	268					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.C289S(9)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ATAAAATTGCAGTTTGTTTCT	0.353																																						uc002yjm.2																			9	Substitution - Missense(9)		kidney(8)|lung(1)	ovary(2)	2						c.(865-867)TGC>AGC		lipase, member I							87.0	87.0	87.0					21																	15537643		2203	4300	6503	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15537643A>T	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.802T>A	21.37:g.15537643A>T	ENSP00000440381:p.Cys268Ser					LIPI_uc010gkw.1_Missense_Mutation_p.C192S	p.C289S	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	6	875	-			268					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.865T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.9|21.9	4.209500|4.209500	0.79240|0.79240	.|.	.|.	ENSG00000188992|ENSG00000188992	ENST00000344577;ENST00000536861;ENST00000382981|ENST00000400211	D;D|.	0.91124|.	-2.79;-2.79|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67515|0.67515	0.2901|0.2901	M|M	0.66560|0.66560	2.04|2.04	0.34768|0.34768	D|D	0.733429|0.733429	D;D|.	0.76494|.	0.999;0.985|.	D;D|.	0.67231|.	0.95;0.918|.	T|T	0.76016|0.76016	-0.3113|-0.3113	10|5	0.09338|.	T|.	0.73|.	.|.	13.8449|13.8449	0.63461|0.63461	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	238;289|.	G1JSG6;Q6XZB0-2|.	.;.|.	S|Q	289;268;133|117	ENSP00000343331:C289S;ENSP00000440381:C268S|.	ENSP00000343331:C289S|.	C|L	-|-	1|2	0|0	LIPI|LIPI	14459514|14459514	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.997000|0.997000	0.91878|0.91878	6.180000|6.180000	0.71981|0.71981	2.311000|2.311000	0.77944|0.77944	0.528000|0.528000	0.53228|0.53228	TGC|CTG		PASS	0.353	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		7	13	7	13	---	---	---	---
RUNX1	861	broad.mit.edu	37	21	36252918	36252918	+	Silent	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr21:36252918G>A	ENST00000344691.4	-	2	1940	c.363C>T	c.(361-363)acC>acT	p.T121T	RUNX1_ENST00000486278.2_Silent_p.T124T|RUNX1_ENST00000437180.1_Silent_p.T148T|RUNX1_ENST00000300305.3_Silent_p.T148T|RUNX1_ENST00000399240.1_Silent_p.T121T|RUNX1_ENST00000325074.5_Silent_p.T136T|RUNX1_ENST00000358356.5_Silent_p.T121T	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	121	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.T148T(1)|p.A149fs*2(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TCATGGCTGCGGTAGCATTTC	0.483			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	uc002yuh.2				Dom	yes		21	21q22.3	861	T	runt-related transcription factor 1  (AML1)			L	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4		AML|preB- ALL|T-ALL		2	Substitution - coding silent(1)|Insertion - Frameshift(1)	p.L121fs*2(1)|p.A149fs*2(1)	haematopoietic_and_lymphoid_tissue(1)|lung(1)	haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						c.(361-363)ACC>ACT		runt-related transcription factor 1 isoform							109.0	94.0	99.0					21																	36252918		2203	4300	6503	SO:0001819	synonymous_variant	861	Platelet_disorder_associated_with_Myeloid_Malignancies			myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr21:36252918G>A	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.363C>T	21.37:g.36252918G>A						RUNX1_uc002yui.2_Silent_p.T121T|RUNX1_uc010gmu.2_Silent_p.T148T|RUNX1_uc010gmv.2_Silent_p.T148T|RUNX1_uc002yuj.3_Silent_p.T16T|RUNX1_uc002yuk.3_Silent_p.T148T|RUNX1_uc002yum.1_Silent_p.T16T|RUNX1_uc010gmw.1_Silent_p.T148T|RUNX1_uc002yuo.1_Silent_p.T121T|RUNX1_uc002yur.1_Silent_p.T16T	p.T121T	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN			2	1941	-			121			Runt.		A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Silent	SNP	ENST00000344691.4	37	c.363C>T	CCDS42922.1																																																																																				PASS	0.483	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1			7	6	7	6	---	---	---	---
CCT8L2	150160	broad.mit.edu	37	22	17072852	17072852	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr22:17072852T>C	ENST00000359963.3	-	1	848	c.589A>G	c.(589-591)Agc>Ggc	p.S197G		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	197					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.S197G(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GGCTTGAAGCTGCCGTCTAGT	0.617																																						uc002zlp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(589-591)AGC>GGC		T-complex protein 1							67.0	65.0	66.0					22																	17072852		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072852T>C	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.589A>G	22.37:g.17072852T>C	ENSP00000353048:p.Ser197Gly						p.S197G	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	849	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	197					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.589A>G	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	t	6.625	0.483742	0.12581	.	.	ENSG00000198445	ENST00000359963	T	0.12672	2.66	1.98	0.893	0.19236	.	0.350306	0.20568	N	0.089784	T	0.06645	0.0170	N	0.16478	0.41	0.22811	N	0.998708	B	0.12013	0.005	B	0.17979	0.02	T	0.30966	-0.9960	10	0.33940	T	0.23	-0.7902	3.7222	0.08460	0.0:0.2109:0.0:0.7891	.	197	Q96SF2	TCPQM_HUMAN	G	197	ENSP00000353048:S197G	ENSP00000353048:S197G	S	-	1	0	CCT8L2	15452852	0.694000	0.27738	0.388000	0.26195	0.085000	0.17905	0.973000	0.29422	0.065000	0.16485	0.312000	0.20444	AGC		PASS	0.617	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			12	32	12	32	---	---	---	---
IGLV2-11	28816	broad.mit.edu	37	22	23135303	23135303	+	RNA	SNP	C	C	A	rs562438902		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr22:23135303C>A	ENST00000390314.2	+	0	207				D86998.1_ENST00000385098.1_RNA					immunoglobulin lambda variable 2-11																		ACTATGTCTCCTGGTACCAAC	0.552																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							262.0	255.0	257.0					22																	23135303		2019	4173	6192			96610							g.chr22:23135303C>A	Z73657		22q11.2	2012-02-08			ENSG00000211668	ENSG00000211668		"""Immunoglobulins / IGL locus"""	5887	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151236		22.37:g.23135303C>A														251		+									RNA	SNP	ENST00000390314.2	37	c.11945C>A																																																																																					PASS	0.552	IGLV2-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321841.1	NG_000002		10	331	10	331	---	---	---	---
RFPL2	10739	broad.mit.edu	37	22	32598391	32598391	+	Silent	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr22:32598391G>T	ENST00000400237.1	-	2	983	c.48C>A	c.(46-48)tcC>tcA	p.S16S	RFPL2_ENST00000248983.4_5'UTR|RP1-90G24.10_ENST00000434942.1_RNA|RFPL2_ENST00000400236.3_5'UTR			O75678	RFPL2_HUMAN	ret finger protein-like 2	16							zinc ion binding (GO:0008270)	p.S16S(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						gacagatcctggattgggaca	0.532																																						uc003amg.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(46-48)TCC>TCA		ret finger protein-like 2 isoform 2							89.0	79.0	82.0					22																	32598391		1568	3582	5150	SO:0001819	synonymous_variant	10739						zinc ion binding	g.chr22:32598391G>T	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.48C>A	22.37:g.32598391G>T						RFPL2_uc003amf.3_5'UTR|RFPL2_uc003amh.3_5'UTR	p.S16S	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN			2	984	-			16						Silent	SNP	ENST00000400237.1	37	c.48C>A	CCDS43009.2																																																																																				PASS	0.532	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		9	23	9	23	---	---	---	---
EIF3L	51386	broad.mit.edu	37	22	38247364	38247364	+	Missense_Mutation	SNP	A	A	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr22:38247364A>G	ENST00000412331.2	+	3	742	c.160A>G	c.(160-162)Aac>Gac	p.N54D	EIF3L_ENST00000381683.6_Missense_Mutation_p.N54D|ANKRD54_ENST00000609454.1_5'Flank|EIF3L_ENST00000406934.1_5'UTR|EIF3L_ENST00000476955.1_3'UTR	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L									p.N54D(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGTGATCAAAAACTTCATCCA	0.433																																						uc003auf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(160-162)AAC>GAC		eukaryotic translation initiation factor 3							90.0	83.0	85.0					22																	38247364		2203	4300	6503	SO:0001583	missense	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38247364A>G	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.160A>G	22.37:g.38247364A>G	ENSP00000416892:p.Asn54Asp					EIF3L_uc003aue.1_Missense_Mutation_p.N54D|EIF3L_uc011ann.1_Missense_Mutation_p.N54D|EIF3L_uc003aug.2_5'UTR	p.N54D	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN			3	247	+			54						Missense_Mutation	SNP	ENST00000412331.2	37	c.160A>G	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	A	14.85	2.657309	0.47467	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000414316;ENST00000381683;ENST00000262832;ENST00000451427	T;T	0.43688	0.97;0.94	5.18	4.12	0.48240	.	0.039911	0.85682	D	0.000000	T	0.17152	0.0412	N	0.04746	-0.17	0.53005	D	0.999963	B;P;P	0.44986	0.205;0.659;0.847	B;B;B	0.36464	0.008;0.142;0.225	T	0.09574	-1.0668	10	0.08179	T	0.78	-35.5268	11.5102	0.50488	0.9259:0.0:0.0741:0.0	.	54;54;97	B4DYB2;Q9Y262;B0QY89	.;EIF3L_HUMAN;.	D	54;97;71;54;54;30	ENSP00000416892:N54D;ENSP00000371099:N54D	ENSP00000262832:N54D	N	+	1	0	EIF3L	36577310	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.897000	0.75671	2.071000	0.62044	0.459000	0.35465	AAC		PASS	0.433	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		10	45	10	45	---	---	---	---
L3MBTL2	83746	broad.mit.edu	37	22	41613159	41613159	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr22:41613159C>A	ENST00000216237.5	+	5	711	c.553C>A	c.(553-555)Ctg>Atg	p.L185M	L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000451176.1_RNA|RP4-756G23.5_ENST00000441316.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	185					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.L185M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGGAAGTTCCTGAAGGATCA	0.637																																						uc003azo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(553-555)CTG>ATG		l(3)mbt-like 2							84.0	74.0	77.0					22																	41613159		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41613159C>A	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.553C>A	22.37:g.41613159C>A	ENSP00000216237:p.Leu185Met					L3MBTL2_uc010gyi.1_Missense_Mutation_p.L94M|L3MBTL2_uc003azn.2_RNA|uc003azp.1_RNA	p.L185M	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN			5	607	+			185			MBT 1.		Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.553C>A	CCDS14011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.417208|4.417208	0.83449|0.83449	.|.	.|.	ENSG00000100395|ENSG00000100395	ENST00000216237|ENST00000449635	T|.	0.42900|.	0.96|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.525648|.	0.18912|.	N|.	0.127736|.	T|T	0.70824|0.70824	0.3268|0.3268	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999997|0.999997	P;D|.	0.89917|.	0.95;1.0|.	P;D|.	0.76575|.	0.838;0.988|.	T|T	0.68394|0.68394	-0.5420|-0.5420	10|5	0.66056|.	D|.	0.02|.	.|.	14.5712|14.5712	0.68213|0.68213	0.1464:0.8536:0.0:0.0|0.1464:0.8536:0.0:0.0	.|.	185;185|.	Q969R5-3;Q969R5|.	.;LMBL2_HUMAN|.	M|H	185|132	ENSP00000216237:L185M|.	ENSP00000216237:L185M|.	L|P	+|+	1|2	2|0	L3MBTL2|L3MBTL2	39943105|39943105	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	1.420000|1.420000	0.34804|0.34804	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	CTG|CCT		PASS	0.637	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		6	83	6	83	---	---	---	---
CYP2D6	1565	broad.mit.edu	37	22	42524814	42524814	+	Missense_Mutation	SNP	A	A	G	rs199535154		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr22:42524814A>G	ENST00000360608.5	-	4	752	c.638T>C	c.(637-639)cTg>cCg	p.L213P	CYP2D6_ENST00000389970.3_Missense_Mutation_p.L213P|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.L162P|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	213					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)	p.L162P(1)|p.L213P(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CTCCTCCTTCAGTCCCTCCTG	0.672																																						uc003bce.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|skin(1)	2	GRCh37	CM994691	CYP2D6	M		c.(637-639)CTG>CCG		cytochrome P450, family 2, subfamily D,							30.0	25.0	27.0					22																	42524814		2199	4299	6498	SO:0001583	missense	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42524814A>G	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.638T>C	22.37:g.42524814A>G	ENSP00000353820:p.Leu213Pro					uc003bcd.1_Intron|CYP2D6_uc010gyu.2_5'UTR|CYP2D6_uc003bcf.2_Missense_Mutation_p.L162P	p.L213P	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN			4	728	-			213					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	c.638T>C	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	a	14.30	2.492981	0.44352	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.80909	-1.43;-1.43;-0.46	3.52	3.52	0.40303	.	0.393637	0.21167	N	0.079050	D	0.89136	0.6629	M	0.89414	3.03	0.40934	D	0.984414	D;D	0.59357	0.981;0.985	D;D	0.68192	0.948;0.956	D	0.90041	0.4142	10	0.87932	D	0	.	8.6956	0.34293	1.0:0.0:0.0:0.0	.	162;213	Q6NXU8;Q6NWU0	.;.	P	213;213;159;162;162	ENSP00000353820:L213P;ENSP00000374620:L213P;ENSP00000351927:L162P	ENSP00000351927:L162P	L	-	2	0	CYP2D6	40854758	0.006000	0.16342	0.004000	0.12327	0.009000	0.06853	2.182000	0.42556	1.832000	0.53329	0.254000	0.18369	CTG		PASS	0.672	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			3	20	3	20	---	---	---	---
ZBED4	9889	broad.mit.edu	37	22	50277561	50277561	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr22:50277561G>T	ENST00000216268.5	+	2	728	c.251G>T	c.(250-252)gGc>gTc	p.G84V		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	84						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G84V(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GATGACTATGGCGCGCTGTTC	0.627																																						uc003bix.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(250-252)GGC>GTC		zinc finger, BED-type containing 4							80.0	92.0	88.0					22																	50277561		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50277561G>T	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.251G>T	22.37:g.50277561G>T	ENSP00000216268:p.Gly84Val						p.G84V	NM_014838	NP_055653	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	721	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	84					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.251G>T	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083744	0.76642	.	.	ENSG00000100426	ENST00000216268	T	0.55052	0.54	5.31	4.29	0.51040	.	0.061995	0.64402	D	0.000003	T	0.55529	0.1926	L	0.32530	0.975	0.80722	D	1	D	0.55605	0.972	P	0.53760	0.734	T	0.62072	-0.6931	10	0.87932	D	0	-29.9708	16.1575	0.81676	0.0:0.1335:0.8665:0.0	.	84	O75132	ZBED4_HUMAN	V	84	ENSP00000216268:G84V	ENSP00000216268:G84V	G	+	2	0	ZBED4	48663565	1.000000	0.71417	0.053000	0.19242	0.007000	0.05969	6.814000	0.75236	1.457000	0.47850	0.650000	0.86243	GGC		PASS	0.627	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		28	57	28	57	---	---	---	---
RPGR	6103	broad.mit.edu	37	X	38146439	38146439	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chrX:38146439C>G	ENST00000339363.3	-	14	2595	c.2428G>C	c.(2428-2430)Gag>Cag	p.E810Q	RPGR_ENST00000309513.3_Missense_Mutation_p.E543Q|RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000378505.2_Missense_Mutation_p.E605Q|RPGR_ENST00000342811.3_Missense_Mutation_p.E605Q|RPGR_ENST00000318842.7_Missense_Mutation_p.E605Q|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	810	Glu-rich.				cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)	p.E605Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						gcttctacctcttgctcctct	0.428																																						uc004ded.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1813-1815)GAG>CAG		retinitis pigmentosa GTPase regulator isoform C							104.0	71.0	82.0					X																	38146439		2202	4299	6501	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38146439C>G	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2428G>C	X.37:g.38146439C>G	ENSP00000343671:p.Glu810Gln					RPGR_uc004deb.2_Missense_Mutation_p.E605Q|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_Intron	p.E605Q	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN			15	1981	-			605			Glu-rich.		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.1813G>C		.	.	.	.	.	.	.	.	.	.	c	11.44	1.639147	0.29157	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000318842;ENST00000342811;ENST00000378505	T;T;T;T;T	0.38401	2.23;2.51;2.51;1.14;1.23	3.78	1.91	0.25777	.	1.349330	0.06620	U	0.757243	T	0.20414	0.0491	L	0.27053	0.805	0.09310	N	1	B;B	0.29432	0.068;0.244	B;B	0.19666	0.014;0.026	T	0.23726	-1.0180	10	0.23302	T	0.38	.	1.6148	0.02701	0.3525:0.3551:0.1765:0.1159	.	605;605	E9PE28;Q92834-2	.;.	Q	810;543;605;605;605	ENSP00000343671:E810Q;ENSP00000308783:E543Q;ENSP00000322219:E605Q;ENSP00000339531:E605Q;ENSP00000367766:E605Q	ENSP00000308783:E543Q	E	-	1	0	RPGR	38031383	0.000000	0.05858	0.008000	0.14137	0.030000	0.12068	0.442000	0.21628	0.450000	0.26774	0.530000	0.56133	GAG		PASS	0.428	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		5	6	5	6	---	---	---	---
NHSL2	340527	broad.mit.edu	37	X	71360443	71360443	+	Silent	SNP	C	C	G			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chrX:71360443C>G	ENST00000373677.1	+	2	3209	c.1947C>G	c.(1945-1947)ctC>ctG	p.L649L	NHSL2_ENST00000540800.1_Silent_p.L1015L|NHSL2_ENST00000535692.1_Silent_p.L649L|NHSL2_ENST00000510661.1_Silent_p.L784L			Q5HYW2	NHSL2_HUMAN	NHS-like 2	649								p.L646L(1)|p.L1015L(1)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					ACCTGCCTCTCACTTCTCCCA	0.542																																						uc011mqa.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(3043-3045)CTC>CTG		NHS-like 2							52.0	56.0	55.0					X																	71360443		2203	4300	6503	SO:0001819	synonymous_variant	340527							g.chrX:71360443C>G			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1947C>G	X.37:g.71360443C>G						NHSL2_uc004eak.1_Silent_p.L649L|NHSL2_uc010nli.2_Silent_p.L784L	p.L1015L	NM_001013627	NP_001013649	Q5HYW2	NHSL2_HUMAN			6	3045	+	Renal(35;0.156)		1015					B2RN94	Silent	SNP	ENST00000373677.1	37	c.3045C>G																																																																																					PASS	0.542	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		6	11	6	11	---	---	---	---
TGIF2LX	90316	broad.mit.edu	37	X	89177748	89177748	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chrX:89177748G>T	ENST00000561129.2	+	1	794	c.664G>T	c.(664-666)Gat>Tat	p.D222Y	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.D222Y			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D222Y(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GCTGCTAGTCGATGCAGCAGT	0.507																																						uc004efe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(664-666)GAT>TAT		TGFB-induced factor homeobox 2-like, X-linked							46.0	49.0	48.0					X																	89177748		2198	4295	6493	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177748G>T	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.664G>T	X.37:g.89177748G>T	ENSP00000453704:p.Asp222Tyr						p.D222Y	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	713	+			222					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.664G>T	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	G	9.092	1.001872	0.19121	.	.	ENSG00000153779	ENST00000283891	T	0.69926	-0.44	2.87	2.87	0.33458	.	0.113691	0.28665	N	0.014551	T	0.72771	0.3502	M	0.66939	2.045	0.09310	N	1	D	0.60575	0.988	P	0.58970	0.849	T	0.61936	-0.6960	9	.	.	.	-4.1409	8.5005	0.33154	0.0:0.0:1.0:0.0	.	222	Q8IUE1	TF2LX_HUMAN	Y	222	ENSP00000355119:D222Y	.	D	+	1	0	TGIF2LX	89064404	1.000000	0.71417	0.009000	0.14445	0.003000	0.03518	6.072000	0.71238	1.728000	0.51552	0.415000	0.27848	GAT		PASS	0.507	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		13	12	13	12	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91133967	91133967	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chrX:91133967G>T	ENST00000373094.1	+	2	3573	c.2728G>T	c.(2728-2730)Gat>Tat	p.D910Y	PCDH11X_ENST00000361655.2_Missense_Mutation_p.D910Y|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D910Y|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D910Y|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D910Y|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D910Y|PCDH11X_ENST00000504220.2_Missense_Mutation_p.D910Y|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D910Y|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D910Y	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	910					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D910Y(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCTTCCTATTGATCTAGAAGA	0.428																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(2728-2730)GAT>TAT		protocadherin 11 X-linked isoform c							105.0	93.0	97.0					X																	91133967		2203	4297	6500	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133967G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2728G>T	X.37:g.91133967G>T	ENSP00000362186:p.Asp910Tyr					PCDH11X_uc004efl.1_Missense_Mutation_p.D910Y|PCDH11X_uc004efo.1_Missense_Mutation_p.D910Y|PCDH11X_uc010nmv.1_Missense_Mutation_p.D910Y|PCDH11X_uc004efm.1_Missense_Mutation_p.D910Y|PCDH11X_uc004efn.1_Missense_Mutation_p.D910Y|PCDH11X_uc004efh.1_Missense_Mutation_p.D910Y|PCDH11X_uc004efj.1_Missense_Mutation_p.D910Y	p.D910Y	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3573	+			910			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2728G>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939257	0.52972	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.16	5.16	0.70880	Protocadherin (1);	0.107330	0.64402	D	0.000008	T	0.44973	0.1319	N	0.22421	0.69	0.42620	D	0.993349	D;D;D;D;D;D;D;P	0.56746	0.971;0.971;0.971;0.971;0.971;0.977;0.971;0.93	P;P;P;P;P;P;P;P	0.62089	0.837;0.837;0.837;0.837;0.837;0.898;0.837;0.837	T	0.50180	-0.8858	10	0.72032	D	0.01	.	16.6258	0.84970	0.0:0.0:1.0:0.0	.	910;910;910;910;910;910;910;910	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	Y	910	ENSP00000378746:D910Y;ENSP00000362186:D910Y;ENSP00000362189:D910Y;ENSP00000355040:D910Y;ENSP00000362180:D910Y;ENSP00000423762:D910Y;ENSP00000355105:D910Y;ENSP00000384758:D910Y;ENSP00000298274:D910Y	ENSP00000298274:D910Y	D	+	1	0	PCDH11X	91020623	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	7.295000	0.78780	2.127000	0.65507	0.600000	0.82982	GAT		PASS	0.428	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		17	14	17	14	---	---	---	---
BTK	695	broad.mit.edu	37	X	100611126	100611126	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chrX:100611126G>T	ENST00000308731.7	-	15	1643	c.1480C>A	c.(1480-1482)Cag>Aag	p.Q494K	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	494	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.Q494K(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGCTGAGTCTGGAAGCGGTGG	0.547									Agammaglobulinemia, X-linked																													uc004ehg.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(2)|ovary(1)	6						c.(1480-1482)CAG>AAG		Bruton agammaglobulinemia tyrosine kinase							115.0	94.0	101.0					X																	100611126		2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100611126G>T	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1480C>A	X.37:g.100611126G>T	ENSP00000308176:p.Gln494Lys					BTK_uc004ehf.2_Intron|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Missense_Mutation_p.Q64K|BTK_uc010nnn.2_Intron|BTK_uc010nno.2_Missense_Mutation_p.Q528K|BTK_uc004ehh.1_Intron|BTK_uc004ehi.2_Missense_Mutation_p.Q494K	p.Q494K	NM_000061	NP_000052	Q06187	BTK_HUMAN			15	1673	-			494			Protein kinase.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.1480C>A	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618370	0.46736	.	.	ENSG00000010671	ENST00000443591;ENST00000308731	D	0.88664	-2.41	5.49	5.49	0.81192	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.109374	0.64402	D	0.000005	T	0.74053	0.3666	N	0.02181	-0.65	0.45129	D	0.99814	B;B;B;B	0.33739	0.238;0.004;0.004;0.422	B;B;B;B	0.30105	0.069;0.005;0.009;0.111	T	0.75204	-0.3400	10	0.22109	T	0.4	.	18.0461	0.89332	0.0:0.0:1.0:0.0	.	165;165;494;494	Q3MS94;Q3MS96;B2RAW1;Q06187	.;.;.;BTK_HUMAN	K	165;494	ENSP00000308176:Q494K	ENSP00000308176:Q494K	Q	-	1	0	BTK	100497782	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.872000	0.75536	2.297000	0.77311	0.600000	0.82982	CAG		PASS	0.547	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		6	41	6	41	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107977075	107977075	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chrX:107977075C>T	ENST00000372129.2	-	1	2576	c.2500G>A	c.(2500-2502)Gga>Aga	p.G834R	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	834					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.G834R(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGGAACTTTCCAGGTAACATT	0.488																																						uc004eoc.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(2500-2502)GGA>AGA		insulin receptor substrate 4							170.0	175.0	173.0					X																	107977075		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977075C>T	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2500G>A	X.37:g.107977075C>T	ENSP00000361202:p.Gly834Arg						p.G834R	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	2533	-			834						Missense_Mutation	SNP	ENST00000372129.2	37	c.2500G>A	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393828	0.62066	.	.	ENSG00000133124	ENST00000372129	T	0.21734	1.99	5.18	4.31	0.51392	.	0.429490	0.21027	N	0.081418	T	0.31513	0.0799	M	0.74258	2.255	0.29335	N	0.86639	D	0.53312	0.959	P	0.46659	0.523	T	0.32693	-0.9897	10	0.72032	D	0.01	-13.7179	12.5406	0.56167	0.0:0.9186:0.0:0.0814	.	834	O14654	IRS4_HUMAN	R	834	ENSP00000361202:G834R	ENSP00000361202:G834R	G	-	1	0	IRS4	107863731	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.701000	0.37825	1.152000	0.42452	0.600000	0.82982	GGA		PASS	0.488	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		96	71	96	71	---	---	---	---
PAK3	5063	broad.mit.edu	37	X	110439768	110439768	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chrX:110439768G>C	ENST00000372010.1	+	17	1794	c.1352G>C	c.(1351-1353)cGa>cCa	p.R451P	PAK3_ENST00000360648.4_Missense_Mutation_p.R472P|PAK3_ENST00000446737.1_Missense_Mutation_p.R436P|PAK3_ENST00000417227.1_Missense_Mutation_p.R457P|PAK3_ENST00000425146.1_Missense_Mutation_p.R436P|PAK3_ENST00000519681.1_Missense_Mutation_p.R457P|PAK3_ENST00000372007.5_Missense_Mutation_p.R436P|PAK3_ENST00000262836.4_Missense_Mutation_p.R451P|PAK3_ENST00000518291.1_Missense_Mutation_p.R472P			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	451	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R472P(1)|p.R436P(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GTGGTGACTCGAAAAGCTTAT	0.473										TSP Lung(19;0.15)																												uc004epa.2																			2	Substitution - Missense(2)		lung(2)	lung(6)|ovary(3)|large_intestine(1)	10						c.(1351-1353)CGA>CCA		p21-activated kinase 3 isoform d							130.0	119.0	123.0					X																	110439768		2203	4300	6503	SO:0001583	missense	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110439768G>C	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.1352G>C	X.37:g.110439768G>C	ENSP00000361080:p.Arg451Pro	TSP Lung(19;0.15)				PAK3_uc010npt.1_Missense_Mutation_p.R436P|PAK3_uc010npu.1_Missense_Mutation_p.R436P|PAK3_uc004eoy.1_Missense_Mutation_p.R191P|PAK3_uc004eoz.2_Missense_Mutation_p.R436P|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.R472P|PAK3_uc010npw.1_Missense_Mutation_p.R457P	p.R451P	NM_001128173	NP_001121645	O75914	PAK3_HUMAN			13	1379	+			451			Protein kinase.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	c.1352G>C	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827891	0.90955	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.39	5.39	0.77823	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	0.85682	D	0.000000	T	0.32466	0.0830	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.996;0.984;0.996;0.984;0.996	T	0.02654	-1.1128	10	0.87932	D	0	.	18.4041	0.90528	0.0:0.0:1.0:0.0	.	457;472;451;436;451	O75914-4;O75914-3;O75914;O75914-2;B1GX77	.;.;PAK3_HUMAN;.;.	P	436;436;451;457;436;472;472;457;451	ENSP00000410853:R436P;ENSP00000401982:R436P;ENSP00000361080:R451P;ENSP00000429113:R457P;ENSP00000361077:R436P;ENSP00000428921:R472P;ENSP00000353864:R472P;ENSP00000389172:R457P;ENSP00000262836:R451P	ENSP00000262836:R451P	R	+	2	0	PAK3	110326424	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.455000	0.97625	2.373000	0.80994	0.594000	0.82650	CGA		PASS	0.473	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		11	16	11	16	---	---	---	---
KIAA1210	57481	broad.mit.edu	37	X	118220998	118220998	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chrX:118220998C>A	ENST00000402510.2	-	11	4194	c.4195G>T	c.(4195-4197)Gga>Tga	p.G1399*		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1399								p.G1223*(1)|p.G1399*(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCATCTCTTCCTAGGAACCAA	0.443																																						uc004era.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|skin(1)	5						c.(4195-4197)GGA>TGA		hypothetical protein LOC57481							119.0	114.0	115.0					X																	118220998		1862	4095	5957	SO:0001587	stop_gained	57481							g.chrX:118220998C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4195G>T	X.37:g.118220998C>A	ENSP00000384670:p.Gly1399*						p.G1399*	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	4195	-			1399					B7ZCI8|Q5JPN4	Nonsense_Mutation	SNP	ENST00000402510.2	37	c.4195G>T	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.093343|7.093343	0.98059|0.98059	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	.|.	.|.	.|.	4.28|4.28	1.51|1.51	0.23008|0.23008	.|.	.|.	.|.	.|.	.|.	.|T	.|0.28665	.|0.0710	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.28996	.|-1.0026	.|3	0.13108|.	T|.	0.6|.	.|.	2.229|2.229	0.03992|0.03992	0.1116:0.193:0.4963:0.1991|0.1116:0.193:0.4963:0.1991	.|.	.|.	.|.	.|.	X|M	1399|805	.|.	ENSP00000384670:G1399X|.	G|R	-|-	1|2	0|0	RP13-347D8.6|KIAA1210	118105026|118105026	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.198000|0.198000	0.17217|0.17217	0.186000|0.186000	0.20125|0.20125	-0.293000|-0.293000	0.09583|0.09583	GGA|AGG		PASS	0.443	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		6	86	6	86	---	---	---	---
PHF6	84295	broad.mit.edu	37	X	133512083	133512083	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chrX:133512083G>T	ENST00000332070.3	+	3	389	c.187G>T	c.(187-189)Ggt>Tgt	p.G63C	PHF6_ENST00000416404.2_Intron|PHF6_ENST00000370803.3_Missense_Mutation_p.G63C|PHF6_ENST00000394292.1_Missense_Mutation_p.G63C|PHF6_ENST00000370800.4_Missense_Mutation_p.G63C|PHF6_ENST00000370799.1_Missense_Mutation_p.G63C	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	63	Extended PHD1 domain (ePHD1).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.G63C(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					TGAAAGTCTTGGTGGATTTTC	0.294			"""F, N, Splice, Mis"""		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	uc004exj.2				Rec	yes		X	Xq26.3	84295		PHD finger protein 6			L					2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(187-189)GGT>TGT		PHD finger protein 6 isoform 1							70.0	73.0	72.0					X																	133512083		2203	4295	6498	SO:0001583	missense	84295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	g.chrX:133512083G>T	AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"""Zinc fingers, PHD-type"""	18145	protein-coding gene	gene with protein product	"""centromere protein 31"""	300414	"""Borjeson-Forssman-Lehmann syndrome"""	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.187G>T	X.37:g.133512083G>T	ENSP00000329097:p.Gly63Cys					PHF6_uc004exk.2_Missense_Mutation_p.G63C|PHF6_uc011mvk.1_Intron|PHF6_uc004exh.2_Missense_Mutation_p.G63C|PHF6_uc010nrr.2_Missense_Mutation_p.G63C|PHF6_uc004exi.2_Missense_Mutation_p.G63C	p.G63C	NM_001015877	NP_001015877	Q8IWS0	PHF6_HUMAN			3	389	+	Acute lymphoblastic leukemia(192;0.000127)		63					A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	ENST00000332070.3	37	c.187G>T	CCDS14639.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119421	0.77323	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000370800	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	5.41	5.41	0.78517	.	0.045428	0.85682	D	0.000000	D	0.85093	0.5618	M	0.82923	2.615	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;1.0	D	0.84956	0.0874	10	0.38643	T	0.18	-18.3531	17.393	0.87437	0.0:0.0:1.0:0.0	.	63;63;63;63	A8K230;Q8IWS0;E9PC97;Q8IWS0-2	.;PHF6_HUMAN;.;.	C	63	ENSP00000359839:G63C;ENSP00000329097:G63C;ENSP00000377831:G63C;ENSP00000359835:G63C;ENSP00000359836:G63C	ENSP00000329097:G63C	G	+	1	0	PHF6	133339749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.979000	0.93455	2.407000	0.81776	0.544000	0.68410	GGT		PASS	0.294	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1	NM_032458		5	25	5	25	---	---	---	---
SRY	6736	broad.mit.edu	37	Y	2655257	2655257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chrY:2655257G>A	ENST00000383070.1	-	1	483	c.388C>T	c.(388-390)Cga>Tga	p.R130*	RNU6-1334P_ENST00000516032.1_RNA|SRY_ENST00000534739.2_Nonsense_Mutation_p.R130*|SRY_ENST00000525526.2_Nonsense_Mutation_p.R130*	NM_003140.2	NP_003131.1	Q05066	SRY_HUMAN	sex determining region Y	130	Required for nuclear localization.|Sufficient for interaction with EP300.|Sufficient for interaction with KPNB1.				cell differentiation (GO:0030154)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription factor binding (GO:0008134)	p.R130*(1)		lung(1)|prostate(1)	2						CGACGAGGTCGATACTTATAA	0.498									Swyer syndrome																												Melanoma(68;1250 1715 17643 26459)	uc004fqg.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(388-390)CGA>TGA		sex determining region Y							43.0	47.0	46.0					Y																	2655257		584	1903	2487	SO:0001587	stop_gained	6736	Swyer_syndrome	Familial Cancer Database	46, XY Female Gonadal Dysgenesis, XY (Pure) Gonadal Dysgenesis	cell differentiation|male sex determination|positive regulation of transcription, DNA-dependent|sex differentiation	cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chrY:2655257G>A		CCDS14772.1	Yp11.3	2008-07-28			ENSG00000184895	ENSG00000184895			11311	protein-coding gene	gene with protein product	"""testis-determining factor"""	480000				18454134	Standard	NM_003140		Approved	TDF	uc004fqg.1	Q05066	OTTHUMG00000036084	ENST00000383070.1:c.388C>T	Y.37:g.2655257G>A	ENSP00000372547:p.Arg130*						p.R130*	NM_003140	NP_003131	Q05066	SRY_HUMAN			1	536	-			130			Sufficient for interaction with EP300.|Required for nuclear localization.|Sufficient for interaction with KPNB1.			Nonsense_Mutation	SNP	ENST00000383070.1	37	c.388C>T	CCDS14772.1	.	.	.	.	.	.	.	.	.	.	.	8.958	0.969834	0.18659	.	.	ENSG00000184895	ENST00000525526;ENST00000534739	.	.	.	0.644	-1.29	0.09288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	X	130	.	.	R	-	1	2	SRY	2715257	1.000000	0.71417	0.146000	0.22360	0.295000	0.27426	2.621000	0.46418	-0.382000	0.07870	0.064000	0.15345	CGA		PASS	0.498	SRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087931.1			5	1	5	1	---	---	---	---
Unknown	0	broad.mit.edu	37	2	97329243	97329243	+	IGR	DEL	A	A	-			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:97329243delA								KANSL3 (25128 upstream) : FER1L5 (6711 downstream)																							TTCCGGATTCAGGTATGGCTC	0.552																																						uc010fia.2																			0				ovary(1)	1						c.(1087-1089)CAGfs		fer-1-like 5 isoform 2							146.0	140.0	142.0					2																	97329243		692	1591	2283	SO:0001628	intergenic_variant	90342					integral to membrane		g.chr2:97329243delA																													2.37:g.97329243delA							p.Q363fs	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN			13	1088	+			363			C2 3.			Frame_Shift_Del	DEL		37	c.1088delA																																																																																				0		0.552									4	2	4	2	---	---	---	---
RAB6C-AS1	100131320	broad.mit.edu	37	2	130725823	130725823	+	RNA	DEL	G	G	-			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr2:130725823delG	ENST00000412425.1	-	0	795					NR_036537.1																						GCAAGCTTGTGGACATCCTCA	0.458																																						uc002tpw.1																			0													Homo sapiens cDNA FLJ41458 fis, clone BRSTN2014490.																																						0							g.chr2:130725823delG																													2.37:g.130725823delG														6		-									RNA	DEL	ENST00000412425.1	37	c.802delC																																																																																						0.458	AC079776.7-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331383.1			17	9	17	9	---	---	---	---
OXSR1	9943	broad.mit.edu	37	3	38207437	38207437	+	Splice_Site	DEL	G	G	-			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:38207437delG	ENST00000446845.1	+	1	442	c.70delG	c.(70-72)ggg>gg	p.G24fs	OXSR1_ENST00000492714.1_Intron|OXSR1_ENST00000311806.3_Splice_Site_p.G24fs					oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGAGGTGATCGGTGAGAGCAG	0.716																																						uc003chy.2																			0				skin(1)	1						c.(70-72)GGGfs		oxidative-stress responsive 1							18.0	20.0	19.0					3																	38207437		2200	4296	6496	SO:0001630	splice_region_variant	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38207437delG	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.70+1G>-	3.37:g.38207437delG						OXSR1_uc010hhb.2_5'UTR|OXSR1_uc010hha.1_5'UTR	p.G24fs	NM_005109	NP_005100	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	1	412	+			24			Protein kinase.|ATP (By similarity).			Frame_Shift_Del	DEL	ENST00000446845.1	37	c.70delG																																																																																						0.716	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000342708.1	NM_005109	Frame_Shift_Del	4	2	4	2	---	---	---	---
MIR570	693155	broad.mit.edu	37	3	195427029	195427029	+	RNA	DEL	T	T	-	rs75160807	byFrequency	TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr3:195427029delT	ENST00000384917.1	+	0	97					NR_030296.1				microRNA 570																		gcaacaggaattttttcaggc	0.423													ttttt|TTTTTT|TTTTT|insertion	1660	0.33147	0.4539	0.3012	5008	,	,		38182	0.4077		0.2197	False		,,,				2504	0.2239					uc011btd.1																			0													Homo sapiens cDNA FLJ46488 fis, clone THYMU3026869.																																						0							g.chr3:195427029delT			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.195427029delT						uc003fux.1_RNA								1		+									RNA	DEL	ENST00000384917.1	37	c.208delT																																																																																						0.423	MIR570-201	KNOWN	basic	miRNA	miRNA		NR_030296		9	4	9	4	---	---	---	---
BAK1	578	broad.mit.edu	37	6	33541613	33541623	+	Frame_Shift_Del	DEL	GCCCAACAGAA	GCCCAACAGAA	-	rs200704036|rs372327476		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr6:33541613_33541623delGCCCAACAGAA	ENST00000374467.3	-	6	841_851	c.593_603delTTCTGTTGGGC	c.(592-603)gttctgttgggcfs	p.VLLG198fs	BAK1_ENST00000360661.5_Frame_Shift_Del_p.VLLG198fs|BAK1_ENST00000442998.2_3'UTR	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	198					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G201D(1)		large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						CCACAAACTGGCCCAACAGAACCACACCCAG	0.559																																						uc003oes.2																			1	Substitution - Missense(1)		skin(1)	ovary(1)	1						c.(592-603)GTTCTGTTGGGCfs		BCL2-antagonist/killer 1																																				SO:0001589	frameshift_variant	578				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity	g.chr6:33541613_33541623delGCCCAACAGAA	U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.593_603delTTCTGTTGGGC	6.37:g.33541613_33541623delGCCCAACAGAA	ENSP00000363591:p.Val198fs					BAK1_uc003oer.2_Frame_Shift_Del_p.V128fs|BAK1_uc003oet.2_RNA|BAK1_uc010jvb.2_Frame_Shift_Del_p.V198fs|BAK1_uc003oeu.2_Frame_Shift_Del_p.V139fs	p.V198fs	NM_001188	NP_001179	Q16611	BAK_HUMAN			6	893_903	-			198_201			Helical; (Potential).		C0H5Y7|Q6I9T6|Q92533	Frame_Shift_Del	DEL	ENST00000374467.3	37	c.593_603delTTCTGTTGGGC	CCDS4781.1																																																																																					0.559	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040202.1	NM_001188		12	20	12	20	---	---	---	---
GLIS3	169792	broad.mit.edu	37	9	3829318	3829318	+	Frame_Shift_Del	DEL	C	C	-			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr9:3829318delC	ENST00000324333.10	-	9	2376	c.2183delG	c.(2182-2184)ggcfs	p.G728fs	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Frame_Shift_Del_p.G883fs	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	728					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		ACCTGTAATGCCCGAGTGAGT	0.552																																						uc003zhw.1																			0				ovary(1)	1						c.(2182-2184)GGCfs		GLIS family zinc finger 3 isoform b							82.0	72.0	75.0					9																	3829318		2203	4300	6503	SO:0001589	frameshift_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3829318delC	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.2183delG	9.37:g.3829318delC	ENSP00000325494:p.Gly728fs					GLIS3_uc003zhx.1_Frame_Shift_Del_p.G883fs|GLIS3_uc010mhf.1_Frame_Shift_Del_p.G277fs|GLIS3_uc003zhv.1_RNA	p.G728fs	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	9	2377	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	728					B1AL19|Q1PHK5	Frame_Shift_Del	DEL	ENST00000324333.10	37	c.2183delG	CCDS6451.1																																																																																					0.552	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		16	13	16	13	---	---	---	---
CNTNAP3	79937	broad.mit.edu	37	9	39149853	39149853	+	Frame_Shift_Del	DEL	C	C	-	rs201862102		TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr9:39149853delC	ENST00000297668.6	-	10	1672	c.1599delG	c.(1597-1599)gcgfs	p.A533fs	CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.A445fs|CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.A533fs|CNTNAP3_ENST00000377659.1_Frame_Shift_Del_p.A533fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	533	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AACTCCCCAGCGCCCCCTGCT	0.542																																						uc004abi.2																			0				ovary(1)	1						c.(1597-1599)GCGfs		cell recognition molecule CASPR3 precursor				10,3536		0,10,1763	6.0	6.0	6.0			2.0	0.8	9		6	38,7192		2,34,3579	no	frameshift	CNTNAP3	NM_033655.3		2,44,5342	A1A1,A1R,RR		0.5256,0.282,0.4454			39149853	48,10728	1907	3893	5800	SO:0001589	frameshift_variant	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39149853delC	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1599delG	9.37:g.39149853delC	ENSP00000297668:p.Ala533fs					CNTNAP3_uc004abj.2_Frame_Shift_Del_p.A533fs|CNTNAP3_uc011lqr.1_Intron|CNTNAP3_uc004abk.1_Frame_Shift_Del_p.A533fs|CNTNAP3_uc011lqs.1_Intron|CNTNAP3_uc004abl.1_Intron	p.A533fs	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	10	1838	-			533			Extracellular (Potential).|Laminin G-like 2.		B1AMA0|Q9C0E9	Frame_Shift_Del	DEL	ENST00000297668.6	37	c.1599delG	CCDS6616.1																																																																																					0.542	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		4	4	4	4	---	---	---	---
DCLRE1CP1	100289151	broad.mit.edu	37	10	15059240	15059240	+	IGR	DEL	G	G	-			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr10:15059240delG								MEIG1 (29191 upstream) : OLAH (26654 downstream)																							CTTGGAATTTGGTAAAATCTT	0.368																																						uc010qby.1																			0					0						c.(133-135)CAAfs		SubName: Full=cDNA FLJ52263, highly similar to Artemis protein (EC 3.1.-.-);																																				SO:0001628	intergenic_variant	414149						fatty-acyl-CoA binding	g.chr10:15059240delG																													10.37:g.15059240delG							p.Q45fs			Q8N6N7	ACBD7_HUMAN			6	442	-			Error:Variant_position_missing_in_Q8N6N7_after_alignment						Frame_Shift_Del	DEL		37	c.133delC																																																																																				0		0.368									31	19	31	19	---	---	---	---
CELF6	60677	broad.mit.edu	37	15	72582506	72582507	+	Frame_Shift_Ins	INS	-	-	A			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr15:72582506_72582507insA	ENST00000569547.1	-	4	555_556	c.484_485insT	c.(484-486)gagfs	p.E162fs	RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000569311.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000287202.5_Frame_Shift_Ins_p.E162fs|CELF6_ENST00000567083.1_Frame_Shift_Ins_p.E162fs|CELF6_ENST00000539635.1_Frame_Shift_Ins_p.E23fs|CELF6_ENST00000543764.2_Frame_Shift_Ins_p.E47fs|CELF6_ENST00000395258.2_Frame_Shift_Ins_p.E49fs			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	162	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						GACCGTGCACTCCTCGATGTGG	0.599																																						uc002auh.2																			0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(484-486)GAGfs		bruno-like 6, RNA binding protein																																				SO:0001589	frameshift_variant	60677				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr15:72582506_72582507insA	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.484_485insT	15.37:g.72582506_72582507insA	ENSP00000454749:p.Glu162fs					uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_Frame_Shift_Ins_p.E49fs|CELF6_uc010ukl.1_Frame_Shift_Ins_p.E47fs|CELF6_uc010ukm.1_Frame_Shift_Ins_p.E162fs|CELF6_uc002aui.2_Frame_Shift_Ins_p.E268fs|CELF6_uc002auj.2_Frame_Shift_Ins_p.E49fs	p.E162fs	NM_052840	NP_443072	Q96J87	CELF6_HUMAN			4	794_795	-			162			RRM 2.		B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Frame_Shift_Ins	INS	ENST00000569547.1	37	c.484_485insT	CCDS10242.1																																																																																					0.599	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	NM_052840		36	20	36	20	---	---	---	---
DKFZp434J0226	93429	broad.mit.edu	37	19	46716265	46716265	+	RNA	DEL	C	C	-			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:46716265delC	ENST00000598170.1	+	0	436					NR_027003.1																						CCATGAGCTGCAGGTGAGTGA	0.557																																						uc010xxw.1																			0					0								Homo sapiens mRNA; cDNA DKFZp434J0226 (from clone DKFZp434J0226).																																						93429							g.chr19:46716265delC																													19.37:g.46716265delC								NR_027003						4		+									RNA	DEL	ENST00000598170.1	37	c.516delC																																																																																						0.557	AC006262.6-003	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000461721.1			4	2	4	2	---	---	---	---
ZNF160	90338	broad.mit.edu	37	19	53571486	53571486	+	Frame_Shift_Del	DEL	C	C	-			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr19:53571486delC	ENST00000429604.1	-	7	2716	c.2301delG	c.(2299-2301)gggfs	p.G767fs	ZNF160_ENST00000601421.1_Frame_Shift_Del_p.G731fs|ZNF160_ENST00000418871.1_Frame_Shift_Del_p.G767fs|ZNF160_ENST00000599056.1_Frame_Shift_Del_p.G767fs	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	767					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TAAAGGCTTTCCCACACTCTG	0.433																																						uc010eqk.2																			0				central_nervous_system(1)	1						c.(2299-2301)GGGfs		zinc finger protein 160							124.0	116.0	119.0					19																	53571486		2203	4300	6503	SO:0001589	frameshift_variant	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53571486delC	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.2301delG	19.37:g.53571486delC	ENSP00000406201:p.Gly767fs					ZNF160_uc002qaq.3_Frame_Shift_Del_p.G767fs|ZNF160_uc002qar.3_Frame_Shift_Del_p.G767fs	p.G767fs	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	7	2717	-			767			C2H2-type 19.		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Frame_Shift_Del	DEL	ENST00000429604.1	37	c.2301delG	CCDS12859.1																																																																																					0.433	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		45	23	45	23	---	---	---	---
CHMP4B	128866	broad.mit.edu	37	20	32399279	32399279	+	Frame_Shift_Del	DEL	C	C	-			TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr20:32399279delC	ENST00000217402.2	+	1	170	c.5delC	c.(4-6)tcgfs	p.S2fs	RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA	NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	2					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|positive regulation of viral release from host cell (GO:1902188)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						GCAACCATGTCGGTGTTCGGG	0.756																																						uc002xaa.2																			0				ovary(1)|central_nervous_system(1)	2						c.(4-6)TCGfs		chromatin modifying protein 4B							7.0	12.0	10.0					20																	32399279		2131	4197	6328	SO:0001589	frameshift_variant	128866				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr20:32399279delC	AL050349	CCDS13228.1	20q11.22	2011-09-21	2011-09-21	2005-04-04	ENSG00000101421	ENSG00000101421		"""Charged multivesicular body proteins"""	16171	protein-coding gene	gene with protein product		610897	"""chromosome 20 open reading frame 178"", ""chromatin modifying protein 4B"""	C20orf178		14678797	Standard	NM_176812		Approved	dJ553F4.4, Shax1, SNF7-2, VPS32B	uc002xaa.3	Q9H444	OTTHUMG00000032272	ENST00000217402.2:c.5delC	20.37:g.32399279delC	ENSP00000217402:p.Ser2fs						p.S2fs	NM_176812	NP_789782	Q9H444	CHM4B_HUMAN			1	161	+			2					E1P5N4|Q53ZD6	Frame_Shift_Del	DEL	ENST00000217402.2	37	c.5delC	CCDS13228.1																																																																																					0.756	CHMP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078738.2			4	2	4	2	---	---	---	---
KRTAP10-3	386682	broad.mit.edu	37	21	45978509	45978509	+	Frame_Shift_Del	DEL	G	G	-	rs587665364	byFrequency	TCGA-37-3789-01A-01D-0983-08	TCGA-37-3789-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d732196f-ef85-43ea-aac7-7c9060bf19c5	7ad070ce-6ace-4f7a-97e5-e234783df2ec	g.chr21:45978509delG	ENST00000391620.1	-	1	134	c.90delC	c.(88-90)cccfs	p.P30fs	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	30	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						TGGCGCAGCAGGGGGGCTCAC	0.697													GGGGGG|GGGGGG|GGGGG|deletion	6	0.00119808	0.0	0.0	5008	,	,		16049	0.0		0.0	False		,,,				2504	0.0061					uc002zfj.1																			0				skin(1)	1						c.(88-90)CCCfs		keratin associated protein 10-3							29.0	31.0	30.0					21																	45978509		2165	4257	6422	SO:0001589	frameshift_variant	386682					keratin filament		g.chr21:45978509delG	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.90delC	21.37:g.45978509delG	ENSP00000375478:p.Pro30fs					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.P30fs	NM_198696	NP_941969	P60369	KR103_HUMAN			1	135	-			30			1.|18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Frame_Shift_Del	DEL	ENST00000391620.1	37	c.90delC	CCDS42956.1																																																																																					0.697	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			16	9	16	9	---	---	---	---
