#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
SH2D5	400745	broad.mit.edu	37	1	21051069	21051069	+	Silent	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr1:21051069G>A	ENST00000444387.2	-	6	847	c.450C>T	c.(448-450)caC>caT	p.H150H	SH2D5_ENST00000375031.1_Silent_p.H66H|SH2D5_ENST00000460804.1_5'UTR	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	150								p.H66H(1)		lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCTCCTCAGGGTGCTGCAAGA	0.682																																						uc001bdt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(196-198)CAC>CAT		SH2 domain containing 5 isoform 2																																				SO:0001819	synonymous_variant	400745							g.chr1:21051069G>A	AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.450C>T	1.37:g.21051069G>A						SH2D5_uc009vpy.1_Silent_p.H150H|SH2D5_uc001bdu.1_RNA	p.H66H	NM_001103160	NP_001096630	Q6ZV89	SH2D5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	5	823	-		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	66					B7Z3W3|Q5SSJ2	Silent	SNP	ENST00000444387.2	37	c.198C>T	CCDS44080.1																																																																																				PASS	0.682	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007455.2	XM_375698		8	7	8	7	---	---	---	---
RIMKLA	284716	broad.mit.edu	37	1	42880318	42880318	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr1:42880318T>A	ENST00000431473.3	+	5	978	c.849T>A	c.(847-849)ttT>ttA	p.F283L		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	283	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.F242L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TCCTAGCCTTTGACCAGGCAT	0.498																																						uc001chi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(847-849)TTT>TTA		ribosomal modification protein rimK-like family							287.0	258.0	268.0					1																	42880318		2203	4300	6503	SO:0001583	missense	284716				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr1:42880318T>A	BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"""N-acetylaspartylglutamate synthetase II"""		"""family with sequence similarity 80, member A"""	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.849T>A	1.37:g.42880318T>A	ENSP00000414330:p.Phe283Leu						p.F283L	NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN			5	987	+			283			ATP-grasp.		Q5VUS5	Missense_Mutation	SNP	ENST00000431473.3	37	c.849T>A	CCDS466.2	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236897	0.39498	.	.	ENSG00000177181	ENST00000431473	.	.	.	5.22	1.16	0.20824	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.53965	0.1829	L	0.35593	1.075	0.50313	D	0.999867	D	0.64830	0.994	D	0.68353	0.957	T	0.41592	-0.9500	9	0.25106	T	0.35	-47.6261	9.2595	0.37603	0.0:0.5321:0.0:0.4679	.	283	Q8IXN7	RIMKA_HUMAN	L	283	.	ENSP00000414330:F283L	F	+	3	2	RIMKLA	42652905	0.985000	0.35326	0.998000	0.56505	0.874000	0.50279	0.219000	0.17641	-0.016000	0.14127	-1.031000	0.02408	TTT		PASS	0.498	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		16	201	16	201	---	---	---	---
EPS15	2060	broad.mit.edu	37	1	51946954	51946954	+	Nonsense_Mutation	SNP	G	G	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr1:51946954G>C	ENST00000371733.3	-	2	162	c.66C>G	c.(64-66)taC>taG	p.Y22*	EPS15_ENST00000371730.2_Nonsense_Mutation_p.Y22*	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	22	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.Y22*(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CCTGTCTATAGTATTTTTCAT	0.303			T	MLL	ALL																																	uc001csq.1				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		1	Substitution - Nonsense(1)		lung(1)	lung(1)|kidney(1)	2						c.(64-66)TAC>TAG		epidermal growth factor receptor pathway							71.0	71.0	71.0					1																	51946954		2200	4298	6498	SO:0001587	stop_gained	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51946954G>C	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.66C>G	1.37:g.51946954G>C	ENSP00000360798:p.Tyr22*					EPS15_uc009vyz.1_Nonsense_Mutation_p.Y22*	p.Y22*	NM_001981	NP_001972	P42566	EPS15_HUMAN			2	158	-			22			EH 1.		B2R8J7|D3DPJ2|Q5SRH4	Nonsense_Mutation	SNP	ENST00000371733.3	37	c.66C>G	CCDS557.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902866	0.72754	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000371727	.	.	.	5.15	3.29	0.37713	.	0.000000	0.29783	N	0.011213	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	9.7055	0.40214	0.1678:0.0:0.8322:0.0	.	.	.	.	X	22	.	ENSP00000360792:Y22X	Y	-	3	2	EPS15	51719542	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.446000	0.35090	0.843000	0.35070	-0.136000	0.14681	TAC		PASS	0.303	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		11	6	11	6	---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67145430	67145430	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr1:67145430G>A	ENST00000371037.4	+	14	886	c.809G>A	c.(808-810)gGa>gAa	p.G270E	SGIP1_ENST00000237247.6_Missense_Mutation_p.G274E|SGIP1_ENST00000371036.3_Missense_Mutation_p.G237E|SGIP1_ENST00000371035.3_Missense_Mutation_p.G227E|SGIP1_ENST00000371039.1_Missense_Mutation_p.G238E|AL139147.1_ENST00000502413.2_5'Flank	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	270	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.G270E(1)|p.G238E(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTAACAATTGGACCAGGTACG	0.468																																						uc001dcr.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(808-810)GGA>GAA		SH3-domain GRB2-like (endophilin) interacting							134.0	121.0	125.0					1																	67145430		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67145430G>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.809G>A	1.37:g.67145430G>A	ENSP00000360076:p.Gly270Glu					SGIP1_uc010opd.1_Missense_Mutation_p.G37E|SGIP1_uc001dcs.2_Missense_Mutation_p.G37E|SGIP1_uc001dct.2_Missense_Mutation_p.G37E|uc010ope.1_5'Flank|SGIP1_uc009wat.2_Missense_Mutation_p.G37E	p.G270E	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			14	1026	+			270			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.809G>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	4.205	0.036795	0.08148	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T	0.13657	4.18;4.18;2.57;4.18;4.18	5.45	2.34	0.29019	.	0.445951	0.25071	N	0.033375	T	0.06005	0.0156	L	0.48642	1.525	0.09310	N	0.999995	P;P;P;P	0.50443	0.863;0.935;0.89;0.468	B;B;B;B	0.41764	0.268;0.366;0.366;0.24	T	0.31998	-0.9923	10	0.21540	T	0.41	-5.8032	18.4304	0.90623	0.0:0.5701:0.4299:0.0	.	273;37;227;270	A6NEV3;B3KR01;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	E	274;238;227;273;273;237;270	ENSP00000237247:G274E;ENSP00000360078:G238E;ENSP00000360074:G227E;ENSP00000360075:G237E;ENSP00000360076:G270E	ENSP00000237247:G274E	G	+	2	0	SGIP1	66918018	1.000000	0.71417	0.992000	0.48379	0.026000	0.11368	1.675000	0.37555	0.244000	0.21351	-0.181000	0.13052	GGA		PASS	0.468	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		25	24	25	24	---	---	---	---
LRRC8D	55144	broad.mit.edu	37	1	90400336	90400336	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr1:90400336A>G	ENST00000337338.5	+	3	2116	c.1709A>G	c.(1708-1710)aAt>aGt	p.N570S	LRRC8D_ENST00000394593.3_Missense_Mutation_p.N570S	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	570					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.N570S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TTAATAGGCAATTTGAACTCT	0.428																																						uc001dnm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1708-1710)AAT>AGT		leucine rich repeat containing 8 family, member							68.0	68.0	68.0					1																	90400336		2203	4300	6503	SO:0001583	missense	55144					integral to membrane	protein binding	g.chr1:90400336A>G	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1709A>G	1.37:g.90400336A>G	ENSP00000338887:p.Asn570Ser					LRRC8D_uc001dnn.2_Missense_Mutation_p.N570S	p.N570S	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	2134	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	570			LRR 3.		D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	c.1709A>G	CCDS726.1	.	.	.	.	.	.	.	.	.	.	A	8.211	0.800430	0.16397	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.37058	1.22;1.22	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.20618	0.0496	L	0.46614	1.455	0.80722	D	1	B	0.21520	0.057	B	0.24006	0.05	T	0.05162	-1.0902	9	.	.	.	.	16.6288	0.85011	1.0:0.0:0.0:0.0	.	570	Q7L1W4	LRC8D_HUMAN	S	570	ENSP00000338887:N570S;ENSP00000378093:N570S	.	N	+	2	0	LRRC8D	90172924	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.326000	0.78906	0.533000	0.62120	AAT		PASS	0.428	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		31	11	31	11	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103453203	103453203	+	Nonsense_Mutation	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr1:103453203G>A	ENST00000370096.3	-	30	2800	c.2488C>T	c.(2488-2490)Caa>Taa	p.Q830*	COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q791*|COL11A1_ENST00000358392.2_Nonsense_Mutation_p.Q842*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q714*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	830	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.Q842*(1)|p.Q830*(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCTCCTGCTTGACCTGAAGGA	0.463																																						uc001dul.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2488-2490)CAA>TAA		alpha 1 type XI collagen isoform A							87.0	83.0	84.0					1																	103453203		2203	4300	6503	SO:0001587	stop_gained	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103453203G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2488C>T	1.37:g.103453203G>A	ENSP00000359114:p.Gln830*					COL11A1_uc001duk.2_Silent_p.V20V|COL11A1_uc001dum.2_Nonsense_Mutation_p.Q842*|COL11A1_uc001dun.2_Nonsense_Mutation_p.Q791*|COL11A1_uc009weh.2_Nonsense_Mutation_p.Q714*	p.Q830*	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	30	2806	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	830			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	ENST00000370096.3	37	c.2488C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	40	8.343288	0.98769	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	.	.	.	4.39	4.39	0.52855	.	0.222725	0.38005	N	0.001846	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	17.507	0.87748	0.0:0.0:1.0:0.0	.	.	.	.	X	830;842;791;714	.	ENSP00000302551:Q791X	Q	-	1	0	COL11A1	103225791	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	5.972000	0.70448	2.417000	0.82017	0.460000	0.39030	CAA		PASS	0.463	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		13	34	13	34	---	---	---	---
KCNA2	3737	broad.mit.edu	37	1	111147297	111147297	+	Silent	SNP	C	C	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr1:111147297C>G	ENST00000485317.1	-	3	781	c.108G>C	c.(106-108)gtG>gtC	p.V36V	KCNA2_ENST00000316361.4_Silent_p.V36V|KCNA2_ENST00000440270.1_Silent_p.V36V|KCNA2_ENST00000369770.3_Silent_p.V36V|KCNA2_ENST00000525120.1_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	36					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.V36V(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	AGATGTTGATCACCACCCTCT	0.582																																					Pancreas(18;568 735 10587 23710 36357)	uc001dzu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(106-108)GTG>GTC		potassium voltage-gated channel, shaker-related							125.0	127.0	126.0					1																	111147297		2203	4300	6503	SO:0001819	synonymous_variant	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111147297C>G	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.108G>C	1.37:g.111147297C>G						KCNA2_uc009wfv.1_Silent_p.V36V|KCNA2_uc009wfw.2_Silent_p.V36V	p.V36V	NM_004974	NP_004965	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	2	604	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	36					Q86XG6	Silent	SNP	ENST00000485317.1	37	c.108G>C	CCDS827.1																																																																																				PASS	0.582	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		44	197	44	197	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120468395	120468395	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr1:120468395T>A	ENST00000256646.2	-	25	4263	c.4044A>T	c.(4042-4044)caA>caT	p.Q1348H	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1348					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.Q1348H(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACATTTCACTTGTCCACAGC	0.547			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2				Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		1	Substitution - Missense(1)		lung(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(4042-4044)CAA>CAT		notch 2 preproprotein							31.0	27.0	28.0					1																	120468395		2203	4300	6503	SO:0001583	missense	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120468395T>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4044A>T	1.37:g.120468395T>A	ENSP00000256646:p.Gln1348His						p.Q1348H	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	25	4300	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1348			Extracellular (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.4044A>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.119048	0.37436	.	.	ENSG00000134250	ENST00000256646	D	0.89810	-2.57	5.84	-11.3	0.00108	.	0.209202	0.23782	U	0.044617	T	0.54983	0.1892	N	0.14661	0.345	0.22280	N	0.999237	B	0.02656	0.0	B	0.01281	0.0	T	0.44682	-0.9312	10	0.49607	T	0.09	.	10.1736	0.42924	0.0:0.363:0.3265:0.3105	.	1348	Q04721	NOTC2_HUMAN	H	1348	ENSP00000256646:Q1348H	ENSP00000256646:Q1348H	Q	-	3	2	NOTCH2	120269918	0.000000	0.05858	0.693000	0.30195	0.765000	0.43378	-2.973000	0.00666	-1.679000	0.01452	-0.396000	0.06452	CAA		PASS	0.547	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		15	13	15	13	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158623135	158623135	+	Silent	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr1:158623135G>A	ENST00000368147.4	-	22	3297	c.3117C>T	c.(3115-3117)ttC>ttT	p.F1039F		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1039					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.F1039F(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGAGCATCGGGAACTCATCGT	0.562																																						uc001fst.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3115-3117)TTC>TTT		spectrin, alpha, erythrocytic 1							105.0	107.0	106.0					1																	158623135		2024	4197	6221	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158623135G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3117C>T	1.37:g.158623135G>A							p.F1039F	NM_003126	NP_003117	P02549	SPTA1_HUMAN			22	3316	-	all_hematologic(112;0.0378)		1039					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.3117C>T	CCDS41423.1																																																																																				PASS	0.562	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		19	64	19	64	---	---	---	---
AIM2	9447	broad.mit.edu	37	1	159035952	159035952	+	Silent	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr1:159035952G>A	ENST00000368130.4	-	4	852	c.564C>T	c.(562-564)ttC>ttT	p.F188F	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	188	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)	p.F188F(1)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					CTTTTACAAAGAAGAATTCCT	0.363																																						uc001ftj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(562-564)TTC>TTT		absent in melanoma 2							87.0	91.0	90.0					1																	159035952		2203	4300	6503	SO:0001819	synonymous_variant	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159035952G>A	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.564C>T	1.37:g.159035952G>A							p.F188F	NM_004833	NP_004824	O14862	AIM2_HUMAN			4	809	-	all_hematologic(112;0.0429)		188			HIN-200.		A8K7M7|Q5T3V9|Q96FG9	Silent	SNP	ENST00000368130.4	37	c.564C>T	CCDS1181.1																																																																																				PASS	0.363	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		35	134	35	134	---	---	---	---
IGSF8	93185	broad.mit.edu	37	1	160062180	160062180	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr1:160062180C>T	ENST00000368086.1	-	5	1834	c.1618G>A	c.(1618-1620)Ggc>Agc	p.G540S	IGSF8_ENST00000314485.7_Missense_Mutation_p.G540S|IGSF8_ENST00000460351.1_5'Flank			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	540	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.G540S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGTACACGCCTTCATCCTCG	0.662																																						uc001fva.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1618-1620)GGC>AGC		immunoglobulin superfamily, member 8							60.0	65.0	63.0					1																	160062180		2203	4300	6503	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160062180C>T	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.1618G>A	1.37:g.160062180C>T	ENSP00000357065:p.Gly540Ser					IGSF8_uc001fuz.2_Missense_Mutation_p.G540S|IGSF8_uc009wtf.2_Missense_Mutation_p.G540S	p.G540S	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		5	1663	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		540			Ig-like C2-type 4.|Extracellular (Potential).		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.1618G>A	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930046	0.73327	.	.	ENSG00000162729	ENST00000314485;ENST00000368086	T;T	0.54866	0.55;0.55	3.5	2.53	0.30540	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.086315	0.45867	U	0.000335	T	0.57301	0.2044	M	0.62723	1.935	0.49687	D	0.999817	D	0.89917	1.0	D	0.91635	0.999	T	0.62148	-0.6915	10	0.87932	D	0	-10.1657	11.2599	0.49076	0.0:0.8117:0.1883:0.0	.	540	Q969P0	IGSF8_HUMAN	S	540	ENSP00000316664:G540S;ENSP00000357065:G540S	ENSP00000316664:G540S	G	-	1	0	IGSF8	158328804	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	4.404000	0.59735	0.392000	0.25172	0.400000	0.26472	GGC		PASS	0.662	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		54	126	54	126	---	---	---	---
RABGAP1L	9910	broad.mit.edu	37	1	174190149	174190149	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr1:174190149G>T	ENST00000251507.4	+	3	352	c.178G>T	c.(178-180)Gaa>Taa	p.E60*	RABGAP1L_ENST00000357444.6_Nonsense_Mutation_p.E23*|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.E60*(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AAAAGCCATGGAAGAGATTTT	0.373																																						uc001gjx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)|kidney(1)	4						c.(178-180)GAA>TAA		RAB GTPase activating protein 1-like isoform A							141.0	142.0	142.0					1																	174190149		2203	4300	6503	SO:0001587	stop_gained	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174190149G>T	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.178G>T	1.37:g.174190149G>T	ENSP00000251507:p.Glu60*					RABGAP1L_uc009wwq.1_Nonsense_Mutation_p.E60*|RABGAP1L_uc001gjw.2_Nonsense_Mutation_p.E23*	p.E60*	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN			3	373	+			60					B7ZAA4	Nonsense_Mutation	SNP	ENST00000251507.4	37	c.178G>T	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	G	39	7.469733	0.98302	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	.	.	.	5.6	5.6	0.85130	.	0.050402	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	17.3758	0.87391	0.0:0.0:1.0:0.0	.	.	.	.	X	23;60;60;60	.	ENSP00000251507:E60X	E	+	1	0	RABGAP1L	172456772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.641000	0.67881	2.648000	0.89879	0.591000	0.81541	GAA		PASS	0.373	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		16	77	16	77	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175046710	175046710	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr1:175046710G>T	ENST00000239462.4	+	2	269	c.156G>T	c.(154-156)aaG>aaT	p.K52N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	52					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.K52N(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ATGTGCCCAAGTCTGCCTTGG	0.612																																						uc001gkl.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(154-156)AAG>AAT		tenascin N precursor							90.0	62.0	72.0					1																	175046710		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175046710G>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.156G>T	1.37:g.175046710G>T	ENSP00000239462:p.Lys52Asn					TNN_uc010pmx.1_Missense_Mutation_p.K52N	p.K52N	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	2	269	+		Breast(1374;0.000962)	52					B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.156G>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.683237	0.68157	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.25749	1.78	5.51	4.6	0.57074	.	0.273617	0.39909	N	0.001238	T	0.41903	0.1179	L	0.53249	1.67	0.27112	N	0.962353	D;D	0.69078	0.965;0.997	P;D	0.63703	0.63;0.917	T	0.27020	-1.0086	10	0.59425	D	0.04	.	11.6711	0.51401	0.1471:0.0:0.8529:0.0	.	52;52	B3KXB6;Q9UQP3	.;TENN_HUMAN	N	52	ENSP00000239462:K52N	ENSP00000239462:K52N	K	+	3	2	TNN	173313333	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.577000	0.53885	1.336000	0.45506	0.655000	0.94253	AAG		PASS	0.612	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		16	67	16	67	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190067750	190067750	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr1:190067750G>A	ENST00000367462.3	-	8	1930	c.1699C>T	c.(1699-1701)Cca>Tca	p.P567S	BRINP3_ENST00000534846.1_Missense_Mutation_p.P465S	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	567					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.P567S(1)									GCCAACACTGGCTCCAAGGTG	0.458																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1699-1701)CCA>TCA		family with sequence similarity 5, member C							79.0	84.0	82.0					1																	190067750		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067750G>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1699C>T	1.37:g.190067750G>A	ENSP00000356432:p.Pro567Ser					FAM5C_uc010pot.1_Missense_Mutation_p.P465S	p.P567S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1931	-	Prostate(682;0.198)		567					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1699C>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550584	0.65311	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.21543	2.25;2.0	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.49081	0.1536	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	T	0.45175	-0.9279	10	0.66056	D	0.02	.	17.5848	0.87978	0.0:0.0:1.0:0.0	.	465;567	B7Z260;Q76B58	.;FAM5C_HUMAN	S	567;465	ENSP00000356432:P567S;ENSP00000438022:P465S	ENSP00000356432:P567S	P	-	1	0	FAM5C	188334373	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.760000	0.98935	2.755000	0.94549	0.591000	0.81541	CCA		PASS	0.458	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		67	103	67	103	---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196311207	196311207	+	Splice_Site	SNP	A	A	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr1:196311207A>C	ENST00000294725.9	-	15	2469		c.e15+1		KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000609185.1_Intron|KCNT2_ENST00000451324.2_Splice_Site|KCNT2_ENST00000367433.5_Splice_Site|KCNT2_ENST00000498426.1_Splice_Site			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2						potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.?(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCAGAAACATACTTTTTGTGT	0.318																																						uc001gtd.1																			1	Unknown(1)		lung(1)	ovary(5)|breast(1)|skin(1)	7						c.e15+1		potassium channel, subfamily T, member 2							90.0	88.0	89.0					1																	196311207		2203	4300	6503	SO:0001630	splice_region_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196311207A>C	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1553+1T>G	1.37:g.196311207A>C						KCNT2_uc009wyt.1_Splice_Site|KCNT2_uc001gte.1_Intron|KCNT2_uc001gtf.1_Splice_Site_p.K518_splice|KCNT2_uc001gtg.1_Splice_Site|KCNT2_uc009wyu.2_Splice_Site_p.K518_splice|KCNT2_uc001gth.1_Intron	p.K518_splice	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			15	1613	-								Q3SY59|Q5VTN1|Q6ZMT3	Splice_Site	SNP	ENST00000294725.9	37	c.1553_splice	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.575320	0.86645	.	.	ENSG00000162687	ENST00000367433;ENST00000535608;ENST00000451324;ENST00000294725	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2631	0.82557	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNT2	194577830	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.284000	0.95882	2.239000	0.73571	0.528000	0.53228	.		PASS	0.318	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	Intron	10	30	10	30	---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196342287	196342287	+	Silent	SNP	A	A	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr1:196342287A>G	ENST00000294725.9	-	14	2301	c.1386T>C	c.(1384-1386)gtT>gtC	p.V462V	KCNT2_ENST00000367431.4_Silent_p.V462V|KCNT2_ENST00000609185.1_Silent_p.V462V|KCNT2_ENST00000451324.2_Silent_p.V73V|KCNT2_ENST00000367433.5_Silent_p.V462V|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	462	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.V462V(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TAGAGGTATGAACCAGTAGTG	0.299																																						uc001gtd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(1)|skin(1)	7						c.(1384-1386)GTT>GTC		potassium channel, subfamily T, member 2							88.0	87.0	87.0					1																	196342287		2203	4293	6496	SO:0001819	synonymous_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196342287A>G	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1386T>C	1.37:g.196342287A>G						KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.V462V|KCNT2_uc001gtf.1_Silent_p.V462V|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.V462V|KCNT2_uc009wyv.1_Silent_p.V437V	p.V462V	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			14	1446	-			462			Cytoplasmic (Potential).|RCK N-terminal.		Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	c.1386T>C	CCDS1384.1																																																																																				PASS	0.299	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		4	21	4	21	---	---	---	---
CFHR2	3080	broad.mit.edu	37	1	196884133	196884133	+	Intron	SNP	A	A	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr1:196884133A>G	ENST00000367421.3	+	2	135				CFHR4_ENST00000367416.2_Missense_Mutation_p.T468A|CFHR4_ENST00000367418.2_Missense_Mutation_p.T222A|CFHR4_ENST00000251424.4_Missense_Mutation_p.T222A|CFHR4_ENST00000608469.1_Missense_Mutation_p.T92A			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)		p.T222A(1)|p.T468A(1)		large_intestine(2)|ovary(1)|skin(3)	6						CAATGGTGATACCACCTCCTT	0.383																																						uc001gto.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(664-666)ACC>GCC		complement factor H-related 4 precursor							76.0	80.0	79.0					1																	196884133		2201	4296	6497	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196884133A>G	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.59-34452A>G	1.37:g.196884133A>G						CFHR4_uc009wyy.2_Missense_Mutation_p.T468A|CFHR4_uc001gtp.2_Missense_Mutation_p.T469A	p.T222A	NM_006684	NP_006675	Q92496	FHR4_HUMAN			5	733	+			222			Sushi 4.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.664A>G		.	.	.	.	.	.	.	.	.	.	A	8.619	0.890983	0.17613	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	T;T;T	0.65732	-0.17;-0.17;-0.17	3.16	1.95	0.26073	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.50292	0.1607	N	0.16567	0.415	0.09310	N	1	P;P;P	0.48834	0.737;0.916;0.906	B;P;P	0.53360	0.377;0.724;0.696	T	0.34900	-0.9810	9	0.17369	T	0.5	.	5.5197	0.16925	0.7527:0.0:0.0:0.2473	.	468;469;222	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	A	468;222;222;222	ENSP00000356386:T468A;ENSP00000356388:T222A;ENSP00000251424:T222A	ENSP00000251424:T222A	T	+	1	0	CFHR4	195150756	0.002000	0.14202	0.003000	0.11579	0.003000	0.03518	1.483000	0.35497	0.211000	0.20683	0.166000	0.16787	ACC		PASS	0.383	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		15	52	15	52	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207646438	207646439	+	Missense_Mutation	DNP	AT	AT	TA			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr1:207646438_207646439AT>TA	ENST00000367058.3	+	10	2081_2082	c.1892_1893AT>TA	c.(1891-1893)tAT>tTA	p.Y631L	CR2_ENST00000367057.3_Missense_Mutation_p.Y631L|CR2_ENST00000367059.3_Missense_Mutation_p.Y631L|CR2_ENST00000458541.2_Missense_Mutation_p.Y604L	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	631	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.Y631F(1)|p.Y631L(1)|p.Y631*(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTCAAGTGTTATAGTGGATTTA	0.401																																						uc001hfw.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(1891-1893)TAT>TTT|c.(1891-1893)TAT>TAA		complement component (3d/Epstein Barr virus)																																				SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207646438A>T|g.chr1:207646439T>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	Exception_encountered	1.37:g.207646438_207646439delinsTA	ENSP00000356025:p.Tyr631Leu					CR2_uc001hfv.2_Missense_Mutation_p.Y631F|CR2_uc009xch.2_Missense_Mutation_p.Y631F|CR2_uc009xci.1_Missense_Mutation_p.Y116F|CR2_uc001hfv.2_Nonsense_Mutation_p.Y631*|CR2_uc009xch.2_Nonsense_Mutation_p.Y631*|CR2_uc009xci.1_Nonsense_Mutation_p.Y116*	p.Y631F|p.Y631*	NM_001877	NP_001868	P20023	CR2_HUMAN			10	1986|1987	+			631			Sushi 10.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000367058.3	37	c.1892A>T|c.1893T>A	CCDS1478.1																																																																																				PASS	0.401	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		32|33	38|36	32	36	---	---	---	---
RRP15	51018	broad.mit.edu	37	1	218458671	218458671	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr1:218458671G>T	ENST00000366932.3	+	1	43	c.13G>T	c.(13-15)Gct>Tct	p.A5S		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	5						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.A5S(1)	ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		GGCAGCCGCCGCTCCGGACTC	0.542																																						uc001hlj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(13-15)GCT>TCT		ribosomal RNA processing 15 homolog							34.0	39.0	37.0					1																	218458671		2203	4300	6503	SO:0001583	missense	51018					mitochondrion|nucleolus	protein binding	g.chr1:218458671G>T		CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"""KIAA0507"""	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.13G>T	1.37:g.218458671G>T	ENSP00000355899:p.Ala5Ser						p.A5S	NM_016052	NP_057136	Q9Y3B9	RRP15_HUMAN		all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)	1	43	+			5						Missense_Mutation	SNP	ENST00000366932.3	37	c.13G>T	CCDS1520.2	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990670	0.35131	.	.	ENSG00000067533	ENST00000366932	T	0.22539	1.95	4.12	0.919	0.19392	.	1.249860	0.05466	N	0.552239	T	0.13713	0.0332	N	0.14661	0.345	0.09310	N	1	B	0.23650	0.089	B	0.24974	0.057	T	0.35871	-0.9771	10	0.62326	D	0.03	-10.0057	6.167	0.20396	0.3571:0.0:0.6429:0.0	.	5	Q9Y3B9	RRP15_HUMAN	S	5	ENSP00000355899:A5S	ENSP00000355899:A5S	A	+	1	0	RRP15	216525294	0.005000	0.15991	0.008000	0.14137	0.002000	0.02628	-0.040000	0.12104	0.207000	0.20607	0.650000	0.86243	GCT		PASS	0.542	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095284.1	NM_016052		8	32	8	32	---	---	---	---
NLRP3	114548	broad.mit.edu	37	1	247607404	247607404	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr1:247607404G>T	ENST00000336119.3	+	7	3546	c.2800G>T	c.(2800-2802)Gag>Tag	p.E934*	NLRP3_ENST00000391827.2_Nonsense_Mutation_p.E877*|NLRP3_ENST00000348069.2_Nonsense_Mutation_p.E820*|NLRP3_ENST00000366497.2_Nonsense_Mutation_p.E877*|NLRP3_ENST00000366496.2_Nonsense_Mutation_p.E877*|NLRP3_ENST00000391828.3_Nonsense_Mutation_p.E934*	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	934					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.E934*(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACTACTCTGTGAGGGACTCTT	0.507																																						uc001icr.2																			1	Substitution - Nonsense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(2800-2802)GAG>TAG		NLR family, pyrin domain containing 3 isoform a							148.0	130.0	136.0					1																	247607404		2203	4300	6503	SO:0001587	stop_gained	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247607404G>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2800G>T	1.37:g.247607404G>T	ENSP00000337383:p.Glu934*					NLRP3_uc001ics.2_Nonsense_Mutation_p.E877*|NLRP3_uc001icu.2_Nonsense_Mutation_p.E934*|NLRP3_uc001icw.2_Nonsense_Mutation_p.E877*|NLRP3_uc001icv.2_Nonsense_Mutation_p.E820*|NLRP3_uc010pyw.1_Nonsense_Mutation_p.E912*	p.E934*	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		9	2938	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	934					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Nonsense_Mutation	SNP	ENST00000336119.3	37	c.2800G>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	46	12.925532	0.99707	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	.	.	.	4.06	0.837	0.18896	.	0.139217	0.33419	N	0.004936	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	3.8863	0.09099	0.2448:0.1931:0.5622:0.0	.	.	.	.	X	934;877;934;820;877;877	.	ENSP00000337383:E934X	E	+	1	0	NLRP3	245674027	1.000000	0.71417	0.998000	0.56505	0.829000	0.46940	0.971000	0.29396	0.178000	0.19917	0.549000	0.68633	GAG		PASS	0.507	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		28	76	28	76	---	---	---	---
OR2T8	343172	broad.mit.edu	37	1	248085113	248085113	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr1:248085113C>A	ENST00000319968.4	+	1	794	c.794C>A	c.(793-795)tCc>tAc	p.S265Y		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S265Y(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCCCACAGGTCCACTAACCAC	0.493																																						uc010pzc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(793-795)TCC>TAC		olfactory receptor, family 2, subfamily T,							88.0	79.0	82.0					1																	248085113		2203	4296	6499	SO:0001583	missense	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248085113C>A		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.794C>A	1.37:g.248085113C>A	ENSP00000326225:p.Ser265Tyr						p.S265Y	NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	794	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	265			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000319968.4	37	c.794C>A	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461827	0.43736	.	.	ENSG00000177462	ENST00000319968	T	0.00277	8.34	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28815	U	0.014041	T	0.00754	0.0025	M	0.90922	3.16	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.22138	-1.0225	10	0.87932	D	0	.	8.5881	0.33670	0.0:0.8894:0.0:0.1106	.	265	A6NH00	OR2T8_HUMAN	Y	265	ENSP00000326225:S265Y	ENSP00000326225:S265Y	S	+	2	0	OR2T8	246151736	0.001000	0.12720	0.005000	0.12908	0.007000	0.05969	0.557000	0.23454	1.709000	0.51313	0.404000	0.27445	TCC		PASS	0.493	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		35	94	35	94	---	---	---	---
OR2T34	127068	broad.mit.edu	37	1	248737429	248737429	+	Silent	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr1:248737429G>T	ENST00000328782.2	-	1	651	c.630C>A	c.(628-630)ctC>ctA	p.L210L		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L210L(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			TGAGAAGCATGAGGATGCAGC	0.542																																						uc001iep.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(628-630)CTC>CTA		olfactory receptor, family 2, subfamily T,							201.0	215.0	210.0					1																	248737429		2109	4300	6409	SO:0001819	synonymous_variant	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737429G>T	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.630C>A	1.37:g.248737429G>T							p.L210L	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	630	-	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)		210			Helical; Name=5; (Potential).		B2RNJ8|Q6IEY5|Q96R31	Silent	SNP	ENST00000328782.2	37	c.630C>A	CCDS31120.1																																																																																				PASS	0.542	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		91	383	91	383	---	---	---	---
CMPK2	129607	broad.mit.edu	37	2	7001388	7001388	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr2:7001388A>G	ENST00000256722.5	-	3	918	c.919T>C	c.(919-921)Tac>Cac	p.Y307H	CMPK2_ENST00000404168.1_Missense_Mutation_p.Y307H|CMPK2_ENST00000458098.1_Missense_Mutation_p.Y307H|CMPK2_ENST00000478738.1_5'UTR	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	307					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)	p.Y307H(1)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCCAAAGAGTAAAAAGCTCTT	0.408																																						uc002qyo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(919-921)TAC>CAC		UMP-CMP kinase 2 precursor							115.0	106.0	109.0					2																	7001388		1894	4109	6003	SO:0001583	missense	129607				dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity	g.chr2:7001388A>G		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"""cytidylate kinase 2"""	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.919T>C	2.37:g.7001388A>G	ENSP00000256722:p.Tyr307His					CMPK2_uc010yis.1_Missense_Mutation_p.Y307H|CMPK2_uc010ewv.2_Missense_Mutation_p.Y307H	p.Y307H	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN			3	1028	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		307					A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Missense_Mutation	SNP	ENST00000256722.5	37	c.919T>C	CCDS42648.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.582622	0.86748	.	.	ENSG00000134326	ENST00000458098;ENST00000256722;ENST00000404168	D;D;D	0.94793	-3.52;-3.52;-3.52	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.96809	0.8958	M	0.70787	2.145	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97427	1.0013	10	0.87932	D	0	-22.7871	15.4456	0.75228	1.0:0.0:0.0:0.0	.	307;307	Q5EBM0-3;Q5EBM0	.;CMPK2_HUMAN	H	307	ENSP00000396385:Y307H;ENSP00000256722:Y307H;ENSP00000384915:Y307H	ENSP00000256722:Y307H	Y	-	1	0	CMPK2	6918839	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	8.515000	0.90548	2.049000	0.60858	0.460000	0.39030	TAC		PASS	0.408	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		17	46	17	46	---	---	---	---
APOB	338	broad.mit.edu	37	2	21233009	21233009	+	Missense_Mutation	SNP	C	C	A	rs146333152	byFrequency	TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr2:21233009C>A	ENST00000233242.1	-	26	6858	c.6731G>T	c.(6730-6732)aGt>aTt	p.S2244I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2244					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.S2244I(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGATGCAGTACTACTTCCACT	0.323																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(6730-6732)AGT>ATT		apolipoprotein B precursor	Atorvastatin(DB01076)						59.0	56.0	57.0					2																	21233009		2202	4298	6500	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233009C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6731G>T	2.37:g.21233009C>A	ENSP00000233242:p.Ser2244Ile						p.S2244I	NM_000384	NP_000375	P04114	APOB_HUMAN			26	6859	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2244					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.6731G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134661	0.37630	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01092	5.35	5.46	2.46	0.29980	.	0.154127	0.45606	D	0.000342	T	0.01387	0.0045	M	0.73962	2.25	0.80722	D	1	P	0.42357	0.777	B	0.26614	0.071	T	0.60707	-0.7210	10	0.87932	D	0	.	7.1064	0.25366	0.1298:0.6765:0.1252:0.0684	.	2244	P04114	APOB_HUMAN	I	2244	ENSP00000233242:S2244I	ENSP00000233242:S2244I	S	-	2	0	APOB	21086514	0.953000	0.32496	0.015000	0.15790	0.801000	0.45260	2.214000	0.42853	0.763000	0.33175	0.561000	0.74099	AGT		PASS	0.323	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			11	22	11	22	---	---	---	---
APOB	338	broad.mit.edu	37	2	21236165	21236165	+	Silent	SNP	A	A	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr2:21236165A>G	ENST00000233242.1	-	25	4210	c.4083T>C	c.(4081-4083)aaT>aaC	p.N1361N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1361					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.N1361N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGTAGACATTCGTGGAGA	0.512																																						uc002red.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(4081-4083)AAT>AAC		apolipoprotein B precursor	Atorvastatin(DB01076)						208.0	189.0	195.0					2																	21236165		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21236165A>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4083T>C	2.37:g.21236165A>G							p.N1361N	NM_000384	NP_000375	P04114	APOB_HUMAN			25	4211	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1361					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.4083T>C	CCDS1703.1																																																																																				PASS	0.512	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			3	171	3	171	---	---	---	---
CGREF1	10669	broad.mit.edu	37	2	27327225	27327225	+	Silent	SNP	A	A	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr2:27327225A>G	ENST00000260595.5	-	2	302	c.10T>C	c.(10-12)Ttg>Ctg	p.L4L	CGREF1_ENST00000405600.1_Silent_p.L4L|CGREF1_ENST00000404694.3_Silent_p.L126L|CGREF1_ENST00000312734.4_Silent_p.L4L|CGREF1_ENST00000402550.1_Silent_p.L4L|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402394.1_Silent_p.L4L			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	4					cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.L4L(1)		kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCATCGTCAAAGGTAACATC	0.562																																						uc010eys.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(10-12)TTG>CTG		cell growth regulator with EF-hand domain 1							65.0	58.0	60.0					2																	27327225		2203	4300	6503	SO:0001819	synonymous_variant	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27327225A>G	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"""EF-hand domain containing"""	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.10T>C	2.37:g.27327225A>G						CGREF1_uc010ylf.1_Intron|CGREF1_uc002rip.1_5'UTR|CGREF1_uc002riq.2_Silent_p.L4L|CGREF1_uc010eyr.1_Silent_p.L126L|CGREF1_uc002rir.1_Silent_p.L4L|CGREF1_uc002ris.2_Silent_p.L4L	p.L4L	NM_006569	NP_006560	Q99674	CGRE1_HUMAN			2	152	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Silent	SNP	ENST00000260595.5	37	c.10T>C																																																																																					PASS	0.562	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		23	36	23	36	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32773076	32773076	+	Silent	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr2:32773076C>T	ENST00000421745.2	+	64	13104	c.12970C>T	c.(12970-12972)Ctg>Ttg	p.L4324L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4324					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.L4324L(1)|p.L4296L(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)					TACCTGCCTTCTGCAGGTATA	0.373																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(12970-12972)CTG>TTG		baculoviral IAP repeat-containing 6							59.0	56.0	57.0					2																	32773076		2203	4300	6503	SO:0001819	synonymous_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32773076C>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.12970C>T	2.37:g.32773076C>T							p.L4324L	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			64	13104	+	Acute lymphoblastic leukemia(172;0.155)		4324					Q9ULD1	Silent	SNP	ENST00000421745.2	37	c.12970C>T	CCDS33175.2																																																																																				PASS	0.373	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		9	26	9	26	---	---	---	---
TTC27	55622	broad.mit.edu	37	2	32855589	32855589	+	Splice_Site	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr2:32855589G>T	ENST00000317907.4	+	2	319		c.e2-1			NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27									p.?(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TTATATTACAGAGAGTGGATC	0.303																																						uc002rom.2																			2	Unknown(2)		lung(2)	central_nervous_system(1)	1						c.e2-1		tetratricopeptide repeat domain 27							34.0	38.0	36.0					2																	32855589		2197	4295	6492	SO:0001630	splice_region_variant	55622						protein binding	g.chr2:32855589G>T	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.89-1G>T	2.37:g.32855589G>T						TTC27_uc010ymx.1_Splice_Site	p.E30_splice	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN			2	320	+								A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Splice_Site	SNP	ENST00000317907.4	37	c.89_splice	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878116	0.33162	.	.	ENSG00000018699	ENST00000317907	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5614	0.84567	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC27	32709093	1.000000	0.71417	0.999000	0.59377	0.269000	0.26545	6.572000	0.74005	2.706000	0.92434	0.561000	0.74099	.		PASS	0.303	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735	Intron	10	34	10	34	---	---	---	---
OTX1	5013	broad.mit.edu	37	2	63283220	63283220	+	Silent	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr2:63283220C>T	ENST00000282549.2	+	5	1110	c.834C>T	c.(832-834)caC>caT	p.H278H	OTX1_ENST00000366671.3_Silent_p.H278H	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	278	His-rich.				anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.H278H(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					ACCATCATCACCACCCACATG	0.642																																						uc002scd.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)	2						c.(832-834)CAC>CAT		orthodenticle homeobox 1							141.0	116.0	125.0					2																	63283220		2203	4300	6503	SO:0001819	synonymous_variant	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283220C>T		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.834C>T	2.37:g.63283220C>T						OTX1_uc010ypt.1_Silent_p.H212H	p.H278H	NM_014562	NP_055377	P32242	OTX1_HUMAN			5	1082	+	Lung NSC(7;0.121)|all_lung(7;0.211)		278			His-rich.		A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	c.834C>T	CCDS1873.1																																																																																				PASS	0.642	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			43	201	43	201	---	---	---	---
PROKR1	10887	broad.mit.edu	37	2	68882195	68882195	+	Silent	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr2:68882195G>T	ENST00000303786.3	+	3	1089	c.669G>T	c.(667-669)gtG>gtT	p.V223V	PROKR1_ENST00000394342.2_Silent_p.V223V			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	223					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.V223V(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTGGCCTGTGGACCAGCAGC	0.552																																						uc010yqj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(667-669)GTG>GTT		G protein-coupled receptor 73							149.0	137.0	141.0					2																	68882195		2203	4300	6503	SO:0001819	synonymous_variant	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882195G>T	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.669G>T	2.37:g.68882195G>T						PROKR1_uc002ses.2_RNA	p.V223V	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN			2	669	+			223			Extracellular (Potential).		A5JUU2|Q53QT9|Q8NFJ7	Silent	SNP	ENST00000303786.3	37	c.669G>T	CCDS1889.1																																																																																				PASS	0.552	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			38	156	38	156	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73635753	73635753	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr2:73635753G>T	ENST00000264448.6	+	2	439	c.328G>T	c.(328-330)Gtt>Ttt	p.V110F	ALMS1_ENST00000377715.1_Missense_Mutation_p.V110F|ALMS1_ENST00000409009.1_Intron	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	110					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.V110F(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						TTTTCAGATTGTTCCATTGAC	0.318																																						uc002sje.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(331-333)GTT>TTT		Alstrom syndrome 1							108.0	94.0	98.0					2																	73635753		1845	4106	5951	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73635753G>T	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.328G>T	2.37:g.73635753G>T	ENSP00000264448:p.Val110Phe					ALMS1_uc002sjf.1_Intron	p.V111F	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			3	442	+			110					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.331G>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977607	0.53720	.	.	ENSG00000116127	ENST00000264448;ENST00000377715	T;T	0.17213	3.18;2.29	3.49	1.64	0.23874	.	0.806923	0.10110	N	0.714795	T	0.24851	0.0603	L	0.36672	1.1	0.23043	N	0.99839	D	0.63046	0.992	P	0.60541	0.876	T	0.13953	-1.0490	10	0.87932	D	0	.	6.1105	0.20097	0.2406:0.0:0.7594:0.0	.	110	Q8TCU4	ALMS1_HUMAN	F	110	ENSP00000264448:V110F;ENSP00000366944:V110F	ENSP00000264448:V110F	V	+	1	0	ALMS1	73489261	0.777000	0.28628	0.990000	0.47175	0.958000	0.62258	-0.615000	0.05597	0.458000	0.26988	0.557000	0.71058	GTT		PASS	0.318	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		3	23	3	23	---	---	---	---
RETSAT	54884	broad.mit.edu	37	2	85571285	85571285	+	Missense_Mutation	SNP	C	C	T	rs41289947	byFrequency	TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr2:85571285C>T	ENST00000295802.4	-	9	1482	c.1370G>A	c.(1369-1371)cGg>cAg	p.R457Q	RETSAT_ENST00000263854.6_Intron|RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000457495.2_Missense_Mutation_p.R396Q	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	457					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)	p.R457Q(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CATGGTGGACCGGCCTGGGGA	0.612													C|||	10	0.00199681	0.0	0.0014	5008	,	,		18770	0.0		0.004	False		,,,				2504	0.0051					uc002spd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1369-1371)CGG>CAG		all-trans-13,14-dihydroretinol saturase	Vitamin A(DB00162)	C	GLN/ARG	0,4406		0,0,2203	66.0	69.0	68.0		1370	4.1	1.0	2	dbSNP_127	68	21,8579	15.3+/-51.7	0,21,4279	no	missense	RETSAT	NM_017750.3	43	0,21,6482	TT,TC,CC		0.2442,0.0,0.1615	possibly-damaging	457/611	85571285	21,12985	2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85571285C>T	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1370G>A	2.37:g.85571285C>T	ENSP00000295802:p.Arg457Gln					RETSAT_uc010fge.2_Intron|RETSAT_uc010ysm.1_Missense_Mutation_p.R396Q|RETSAT_uc010fgf.2_Missense_Mutation_p.R248Q	p.R457Q	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN			9	1561	-			457					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.1370G>A	CCDS1972.1	5|5	0.0022893772893772895|0.0022893772893772895	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	5|5	0.006596306068601583|0.006596306068601583	C|C	13.47|13.47	2.247388|2.247388	0.39697|0.39697	0.0|0.0	0.002442|0.002442	ENSG00000042445|ENSG00000042445	ENST00000449375|ENST00000295802;ENST00000457495	.|T;T	.|0.22945	.|1.95;1.93	4.99|4.99	4.09|4.09	0.47781|0.47781	.|.	.|0.131649	.|0.56097	.|D	.|0.000031	T|T	0.13157|0.13157	0.0319|0.0319	M|M	0.62209|0.62209	1.925|1.925	0.80722|0.80722	D|D	1|1	.|P;P;B	.|0.42039	.|0.769;0.769;0.223	.|B;B;B	.|0.29663	.|0.105;0.105;0.048	T|T	0.02104|0.02104	-1.1213|-1.1213	5|10	.|0.33940	.|T	.|0.23	-14.4335|-14.4335	6.9698|6.9698	0.24642|0.24642	0.0:0.8086:0.0:0.1914|0.0:0.8086:0.0:0.1914	rs41289947|rs41289947	.|396;396;457	.|G5E9N3;B4DKE1;Q6NUM9	.|.;.;RETST_HUMAN	S|Q	246|457;396	.|ENSP00000295802:R457Q;ENSP00000405040:R396Q	.|ENSP00000295802:R457Q	G|R	-|-	1|2	0|0	RETSAT|RETSAT	85424796|85424796	0.989000|0.989000	0.36119|0.36119	0.992000|0.992000	0.48379|0.48379	0.073000|0.073000	0.16967|0.16967	2.572000|2.572000	0.45999|0.45999	2.491000|2.491000	0.84063|0.84063	0.561000|0.561000	0.74099|0.74099	GGT|CGG		PASS	0.612	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		52	87	52	87	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179644760	179644760	+	Silent	SNP	A	A	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr2:179644760A>G	ENST00000591111.1	-	22	3920	c.3696T>C	c.(3694-3696)gaT>gaC	p.D1232D	TTN_ENST00000342992.6_Silent_p.D1232D|TTN_ENST00000360870.5_Silent_p.D1232D|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Silent_p.D1186D|TTN_ENST00000460472.2_Silent_p.D1186D|TTN_ENST00000342175.6_Silent_p.D1186D|TTN_ENST00000589042.1_Silent_p.D1232D			Q8WZ42	TITIN_HUMAN	titin	33440					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D1232D(3)|p.D1186D(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACTACAGTATCTTTGGCCA	0.313																																						uc010zfg.1																			6	Substitution - coding silent(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(3694-3696)GAT>GAC		titin isoform N2-A							129.0	119.0	123.0					2																	179644760		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179644760A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3696T>C	2.37:g.179644760A>G						TTN_uc010zfh.1_Silent_p.D1186D|TTN_uc010zfi.1_Silent_p.D1186D|TTN_uc010zfj.1_Silent_p.D1186D|TTN_uc002unb.2_Silent_p.D1232D	p.D1232D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		22	3920	-			1232					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.3696T>C																																																																																					PASS	0.313	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	20	25	20	---	---	---	---
PLCL1	5334	broad.mit.edu	37	2	198948702	198948702	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr2:198948702A>G	ENST00000428675.1	+	2	859	c.461A>G	c.(460-462)gAg>gGg	p.E154G	PLCL1_ENST00000437704.2_Missense_Mutation_p.E56G	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	154	Interaction with PPP1C.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.E56G(1)|p.E154G(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AAAGACCTCGAGAAAGCCAAG	0.443																																						uc010fsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(460-462)GAG>GGG		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						71.0	77.0	75.0					2																	198948702		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198948702A>G	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.461A>G	2.37:g.198948702A>G	ENSP00000402861:p.Glu154Gly					PLCL1_uc002uuv.3_Missense_Mutation_p.E75G	p.E154G	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	752	+			154			PH.|Interaction with PPP1C.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.461A>G	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250847	0.80135	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.19394	2.15;2.15	5.67	5.67	0.87782	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.080741	0.52532	D	0.000064	T	0.22742	0.0549	L	0.50919	1.6	0.80722	D	1	B;B	0.17852	0.024;0.014	B;B	0.19946	0.027;0.027	T	0.03157	-1.1066	9	.	.	.	.	16.215	0.82206	1.0:0.0:0.0:0.0	.	154;80	Q15111;B4DYZ4	PLCL1_HUMAN;.	G	154;56	ENSP00000402861:E154G;ENSP00000414138:E56G	.	E	+	2	0	PLCL1	198656947	1.000000	0.71417	0.997000	0.53966	0.891000	0.51852	9.275000	0.95738	2.288000	0.76882	0.533000	0.62120	GAG		PASS	0.443	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		38	35	38	35	---	---	---	---
PLCL1	5334	broad.mit.edu	37	2	198948753	198948753	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr2:198948753A>T	ENST00000428675.1	+	2	910	c.512A>T	c.(511-513)aAc>aTc	p.N171I	PLCL1_ENST00000437704.2_Missense_Mutation_p.N73I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	171	Interaction with PPP1C.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.N73I(1)|p.N171I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTGGGGAAAAACACGGAAACA	0.458																																						uc010fsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(511-513)AAC>ATC		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						111.0	118.0	116.0					2																	198948753		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198948753A>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.512A>T	2.37:g.198948753A>T	ENSP00000402861:p.Asn171Ile					PLCL1_uc002uuv.3_Missense_Mutation_p.N92I	p.N171I	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	803	+			171			PH.|Interaction with PPP1C.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.512A>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	A	23.0	4.360595	0.82353	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.64991	-0.13;-0.13	5.67	5.67	0.87782	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.77150	0.4088	M	0.78637	2.42	0.80722	D	1	D;D	0.58970	0.984;0.984	P;P	0.59948	0.866;0.866	T	0.78570	-0.2153	9	.	.	.	.	16.215	0.82206	1.0:0.0:0.0:0.0	.	171;97	Q15111;B4DYZ4	PLCL1_HUMAN;.	I	171;73	ENSP00000402861:N171I;ENSP00000414138:N73I	.	N	+	2	0	PLCL1	198656998	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	7.462000	0.80851	2.288000	0.76882	0.533000	0.62120	AAC		PASS	0.458	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		24	88	24	88	---	---	---	---
STK11IP	114790	broad.mit.edu	37	2	220462644	220462644	+	Splice_Site	SNP	C	C	T	rs374564435		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr2:220462644C>T	ENST00000295641.10	+	1	49	c.6C>T	c.(4-6)ttC>ttT	p.F2F	STK11IP_ENST00000456909.1_5'UTR	NM_052902.2	NP_443134	Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	2					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)	p.F2F(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGGGAGGTTCGGTATGTCTG	0.572											OREG0003993	type=REGULATORY REGION|Gene=STK11IP|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002vml.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(4-6)TTC>TTT		LKB1 interacting protein							70.0	72.0	72.0					2																	220462644		1965	4128	6093	SO:0001630	splice_region_variant	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220462644C>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000295641.10:c.7+1C>T	2.37:g.220462644C>T			OREG0003993	type=REGULATORY REGION|Gene=STK11IP|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2266	STK11IP_uc010zlj.1_5'UTR|STK11IP_uc010zlk.1_5'UTR|STK11IP_uc010zll.1_5'UTR|STK11IP_uc002vmm.1_5'Flank	p.F2F	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	49	+		Renal(207;0.0183)	2					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Silent	SNP	ENST00000295641.10	37	c.6C>T	CCDS46521.1																																																																																				PASS	0.572	STK11IP-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052902	Silent	5	24	5	24	---	---	---	---
VHL	7428	broad.mit.edu	37	3	10191556	10191556	+	Silent	SNP	G	G	A	rs193922614		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr3:10191556G>A	ENST00000256474.2	+	3	1389	c.549G>A	c.(547-549)tcG>tcA	p.S183S	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Silent_p.S142S	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	183					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S183*(1)|p.S183S(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCGTCAGGTCGCTCTACGAAG	0.512		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													uc003bvc.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	D|Mis|N|F|S	von Hippel-Lindau syndrome gene			"""E, M, O"""		renal|hemangioma|pheochromocytoma	renal|hemangioma|pheochromocytoma		2	Deletion - Frameshift(1)|Substitution - coding silent(1)	p.S183*(6)|p.S183fs*19(1)	lung(1)|kidney(1)	kidney(1273)|soft_tissue(24)|adrenal_gland(15)|large_intestine(13)|pancreas(5)|endometrium(4)|thyroid(3)|upper_aerodigestive_tract(3)|central_nervous_system(2)|lung(2)|pleura(1)|paratesticular_tissues(1)	1346						c.(547-549)TCG>TCA		von Hippel-Lindau tumor suppressor isoform 1							84.0	76.0	79.0					3																	10191556		2203	4300	6503	SO:0001819	synonymous_variant	7428	von_Hippel-Lindau_disease|Chuvash_Polycythemia_|Pheochromocytoma_(Adrenal)_Familial	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10191556G>A	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.549G>A	3.37:g.10191556G>A						VHL_uc003bvd.2_Silent_p.S142S	p.S183S	NM_000551	NP_000542	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	3	762	+			183					B2RE45|Q13599|Q6PDA9	Silent	SNP	ENST00000256474.2	37	c.549G>A	CCDS2597.1																																																																																				PASS	0.512	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		20	12	20	12	---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36899190	36899190	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr3:36899190G>C	ENST00000429976.2	-	12	2138	c.1891C>G	c.(1891-1893)Cac>Gac	p.H631D	TRANK1_ENST00000301807.6_Missense_Mutation_p.H81D|TRANK1_ENST00000428977.2_Missense_Mutation_p.H81D	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	631							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.H81D(2)|p.H631D(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGAGATGTGTGACCAGGGGCA	0.582																																						uc003cgj.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(241-243)CAC>GAC		lupus brain antigen 1							105.0	109.0	108.0					3																	36899190		2029	4190	6219	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36899190G>C	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.1891C>G	3.37:g.36899190G>C	ENSP00000416168:p.His631Asp						p.H81D	NM_014831	NP_055646	O15050	TRNK1_HUMAN			3	543	-			631					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.241C>G	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	G	0.095	-1.160596	0.01686	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.20881	2.04;2.04;2.04	5.19	4.31	0.51392	.	0.245666	0.28470	N	0.015229	T	0.10981	0.0268	N	0.20986	0.625	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34527	-0.9825	10	0.02654	T	1	.	9.014	0.36159	0.0:0.1769:0.5769:0.2462	.	631	O15050	TRNK1_HUMAN	D	81;631;81	ENSP00000416826:H81D;ENSP00000416168:H631D;ENSP00000301807:H81D	ENSP00000301807:H81D	H	-	1	0	TRANK1	36874194	0.191000	0.23288	0.010000	0.14722	0.027000	0.11550	1.361000	0.34136	1.492000	0.48499	0.650000	0.86243	CAC		PASS	0.582	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		8	128	8	128	---	---	---	---
ACKR2	1238	broad.mit.edu	37	3	42906283	42906283	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr3:42906283G>T	ENST00000422265.1	+	3	464	c.289G>T	c.(289-291)Gtg>Ttg	p.V97L	RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.V97L|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.V97L	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	97					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.V97L(1)									TCTGTTTCTGGTGACACTGCC	0.507																																						uc003cme.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(1)	5						c.(289-291)GTG>TTG		chemokine binding protein 2							157.0	149.0	152.0					3																	42906283		2203	4300	6503	SO:0001583	missense	1238				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity	g.chr3:42906283G>T	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.289G>T	3.37:g.42906283G>T	ENSP00000416996:p.Val97Leu					CCBP2_uc003cmd.1_Missense_Mutation_p.V97L|CCBP2_uc003cmf.2_Missense_Mutation_p.V97L|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron	p.V97L	NM_001296	NP_001287	O00590	CCBP2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	3	468	+			97			Helical; Name=2; (Potential).		B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	c.289G>T	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	G	5.344	0.248852	0.10130	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.32753	1.44;1.44;1.44	5.28	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.164390	0.28354	N	0.015644	T	0.09862	0.0242	N	0.02658	-0.545	0.80722	D	1	B;B	0.30326	0.276;0.116	B;B	0.32393	0.145;0.085	T	0.16100	-1.0414	9	.	.	.	.	3.5038	0.07683	0.0875:0.1387:0.5189:0.2549	.	97;97	O00590;Q7Z7I1	CCBP2_HUMAN;.	L	97	ENSP00000396150:V97L;ENSP00000416996:V97L;ENSP00000273145:V97L	.	V	+	1	0	CCBP2	42881287	0.000000	0.05858	1.000000	0.80357	0.984000	0.73092	-1.050000	0.03510	2.477000	0.83638	0.563000	0.77884	GTG		PASS	0.507	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		95	57	95	57	---	---	---	---
ZNF662	389114	broad.mit.edu	37	3	42956129	42956129	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr3:42956129G>T	ENST00000541208.1	+	5	933	c.564G>T	c.(562-564)gaG>gaT	p.E188D	ZNF662_ENST00000440367.2_Missense_Mutation_p.E188D|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.E214D			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	188					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.E214D(1)|p.E188D(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TTCTAAATGAGCAAATATTCT	0.363																																						uc003cmi.2																			2	Substitution - Missense(2)		lung(2)		0						c.(562-564)GAG>GAT		zinc finger protein 662 isoform 1							62.0	66.0	65.0					3																	42956129		2203	4300	6503	SO:0001583	missense	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42956129G>T	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.564G>T	3.37:g.42956129G>T	ENSP00000446208:p.Glu188Asp					ZNF662_uc003cmk.2_Missense_Mutation_p.E214D|ZNF662_uc003cmj.2_Missense_Mutation_p.E80D	p.E188D	NM_207404	NP_997287	Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	5	916	+			188					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	c.564G>T	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	G	0.065	-1.214622	0.01555	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.08896	3.04;3.2;3.04	3.18	0.333	0.15943	.	.	.	.	.	T	0.06188	0.0160	N	0.22421	0.69	0.09310	N	1	B;B	0.34290	0.447;0.319	B;B	0.36378	0.223;0.071	T	0.37731	-0.9693	9	0.59425	D	0.04	.	6.7455	0.23458	0.3654:0.0:0.6346:0.0	.	214;188	F8W7S8;Q6ZS27	.;ZN662_HUMAN	D	188;214;188	ENSP00000405047:E188D;ENSP00000329264:E214D;ENSP00000446208:E188D	ENSP00000329264:E214D	E	+	3	2	ZNF662	42931133	0.000000	0.05858	0.008000	0.14137	0.084000	0.17831	-0.186000	0.09670	0.210000	0.20664	0.555000	0.69702	GAG		PASS	0.363	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		16	20	16	20	---	---	---	---
FBXW12	285231	broad.mit.edu	37	3	48420927	48420927	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr3:48420927T>C	ENST00000296438.5	+	7	839	c.653T>C	c.(652-654)cTg>cCg	p.L218P	FBXW12_ENST00000445170.1_Missense_Mutation_p.L199P|FBXW12_ENST00000415155.1_Missense_Mutation_p.L148P|FBXW12_ENST00000436231.1_Missense_Mutation_p.L61P|RN7SL321P_ENST00000581742.1_RNA	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	218								p.L218P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACATTTACACTGCCTGGGTTA	0.418																																						uc003csr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(652-654)CTG>CCG		F-box and WD repeat domain containing 12 isoform							315.0	282.0	293.0					3																	48420927		2203	4300	6503	SO:0001583	missense	285231							g.chr3:48420927T>C	AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.653T>C	3.37:g.48420927T>C	ENSP00000296438:p.Leu218Pro					FBXW12_uc010hjv.2_Missense_Mutation_p.L199P|FBXW12_uc003css.2_Missense_Mutation_p.L148P|FBXW12_uc010hjw.2_Missense_Mutation_p.L117P	p.L218P	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	7	839	+			218			WD 3.		E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	ENST00000296438.5	37	c.653T>C	CCDS2764.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.373613	0.42105	.	.	ENSG00000164049	ENST00000458736;ENST00000296438;ENST00000436231;ENST00000445170;ENST00000415155	T;T;T;T	0.68479	1.45;-0.33;1.45;3.11	3.64	2.47	0.30058	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	1.562300	0.03510	N	0.219423	T	0.66470	0.2792	N	0.22421	0.69	0.20403	N	0.999905	D;D;D;D	0.60160	0.987;0.987;0.978;0.978	P;P;P;P	0.55303	0.693;0.773;0.598;0.694	T	0.55579	-0.8119	10	0.87932	D	0	-3.5106	7.2414	0.26098	0.0:0.0:0.251:0.749	.	117;199;148;218	E9PCA2;E9PG36;Q494Z0;Q6X9E4	.;.;.;FBW12_HUMAN	P	117;218;61;199;148	ENSP00000296438:L218P;ENSP00000413866:L61P;ENSP00000406139:L199P;ENSP00000414683:L148P	ENSP00000296438:L218P	L	+	2	0	FBXW12	48395931	0.082000	0.21442	0.021000	0.16686	0.009000	0.06853	1.500000	0.35682	0.735000	0.32537	0.533000	0.62120	CTG		PASS	0.418	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102		120	89	120	89	---	---	---	---
USP4	7375	broad.mit.edu	37	3	49318254	49318254	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr3:49318254C>T	ENST00000265560.4	-	20	2613	c.2567G>A	c.(2566-2568)tGt>tAt	p.C856Y	USP4_ENST00000351842.4_Missense_Mutation_p.C809Y|C3orf62_ENST00000343010.3_5'Flank	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	856	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.C856Y(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TGACAGGTTACAGACAAACTC	0.438																																						uc003cwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|urinary_tract(1)|lung(1)	4						c.(2566-2568)TGT>TAT		ubiquitin specific protease 4 isoform a							146.0	121.0	129.0					3																	49318254		2203	4300	6503	SO:0001583	missense	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49318254C>T	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.2567G>A	3.37:g.49318254C>T	ENSP00000265560:p.Cys856Tyr					USP4_uc003cwo.2_Missense_Mutation_p.C568Y|USP4_uc003cwp.2_Missense_Mutation_p.C586Y|USP4_uc003cwr.2_Missense_Mutation_p.C809Y	p.C856Y	NM_003363	NP_003354	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	20	2646	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	856					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	c.2567G>A	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871741	0.51695	.	.	ENSG00000114316	ENST00000351842;ENST00000265560	T;T	0.29655	1.56;1.56	5.58	5.58	0.84498	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	L	0.56340	1.77	0.80722	D	1	B;B;B	0.31054	0.261;0.11;0.306	B;B;B	0.30716	0.073;0.047;0.119	T	0.15636	-1.0430	10	0.72032	D	0.01	-5.8836	18.1481	0.89665	0.0:1.0:0.0:0.0	.	809;856;856	Q13107-2;Q13107;Q08AK7	.;UBP4_HUMAN;.	Y	809;856	ENSP00000341028:C809Y;ENSP00000265560:C856Y	ENSP00000265560:C856Y	C	-	2	0	USP4	49293258	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	3.049000	0.49869	2.629000	0.89072	0.563000	0.77884	TGT		PASS	0.438	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		17	29	17	29	---	---	---	---
PROS1	5627	broad.mit.edu	37	3	93611872	93611872	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr3:93611872G>C	ENST00000394236.3	-	10	1376	c.1060C>G	c.(1060-1062)Ctt>Gtt	p.L354V	PROS1_ENST00000407433.1_Missense_Mutation_p.L223V	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	354	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)	p.L354V(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CCACCACGAAGTGCAATCAGG	0.398																																						uc003drb.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1060-1062)CTT>GTT		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						111.0	101.0	104.0					3																	93611872		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93611872G>C		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1060C>G	3.37:g.93611872G>C	ENSP00000377783:p.Leu354Val					PROS1_uc010hoo.2_Missense_Mutation_p.L223V|PROS1_uc003dqz.3_Missense_Mutation_p.L223V	p.L354V	NM_000313	NP_000304	P07225	PROS_HUMAN			10	1401	-			354			Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.1060C>G	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	G	8.585	0.883284	0.17467	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	D;D	0.90133	-2.62;-2.62	4.47	2.64	0.31445	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.071341	0.56097	N	0.000026	D	0.89086	0.6615	M	0.64676	1.99	0.48511	D	0.999666	B	0.23442	0.085	B	0.28916	0.096	D	0.84909	0.0847	10	0.45353	T	0.12	.	14.389	0.66965	0.0:0.2818:0.7182:0.0	.	354	P07225	PROS_HUMAN	V	354;223	ENSP00000377783:L354V;ENSP00000385794:L223V	ENSP00000377783:L354V	L	-	1	0	PROS1	95094562	1.000000	0.71417	0.958000	0.39756	0.123000	0.20343	4.978000	0.63799	0.500000	0.27991	-0.234000	0.12200	CTT		PASS	0.398	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		18	35	18	35	---	---	---	---
TBC1D23	55773	broad.mit.edu	37	3	100039691	100039691	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr3:100039691A>T	ENST00000394144.4	+	18	1901	c.1894A>T	c.(1894-1896)Ata>Tta	p.I632L	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Missense_Mutation_p.I495L|TBC1D23_ENST00000344949.5_Missense_Mutation_p.I617L	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	632					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.I617L(1)|p.I632L(1)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						ATTGGCTTATATACAGTCTCG	0.353																																						uc003dtt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|liver(1)	2						c.(1894-1896)ATA>TTA		TBC1 domain family, member 23							95.0	95.0	95.0					3																	100039691		2203	4300	6503	SO:0001583	missense	55773					intracellular	Rab GTPase activator activity	g.chr3:100039691A>T	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1894A>T	3.37:g.100039691A>T	ENSP00000377700:p.Ile632Leu					TBC1D23_uc003dts.2_Missense_Mutation_p.I617L|TBC1D23_uc003dtu.2_Missense_Mutation_p.I63L	p.I632L	NM_018309	NP_060779	Q9NUY8	TBC23_HUMAN			18	2071	+			632					B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Missense_Mutation	SNP	ENST00000394144.4	37	c.1894A>T	CCDS56265.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.846357	0.91277	.	.	ENSG00000036054	ENST00000344949;ENST00000394144;ENST00000475134	T;T;T	0.39787	1.08;1.06;1.08	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	L	0.58810	1.83	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.77557	0.936;0.99	T	0.59526	-0.7438	9	.	.	.	.	15.4784	0.75504	1.0:0.0:0.0:0.0	.	632;617	Q9NUY8;Q9NUY8-2	TBC23_HUMAN;.	L	617;632;495	ENSP00000340693:I617L;ENSP00000377700:I632L;ENSP00000418059:I495L	.	I	+	1	0	TBC1D23	101522381	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.851000	0.92205	2.109000	0.64355	0.533000	0.62120	ATA		PASS	0.353	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		16	23	16	23	---	---	---	---
CCDC80	151887	broad.mit.edu	37	3	112357078	112357078	+	Missense_Mutation	SNP	C	C	A	rs145200206	byFrequency	TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr3:112357078C>A	ENST00000206423.3	-	2	2628	c.1675G>T	c.(1675-1677)Gca>Tca	p.A559S	CCDC80_ENST00000439685.2_Missense_Mutation_p.A559S|CCDC80_ENST00000475181.1_5'Flank	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	559	Lys-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.A559S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						aacttgtctgcgttctcattc	0.373													C|||	7	0.00139776	0.0	0.0101	5008	,	,		21081	0.0		0.0	False		,,,				2504	0.0					uc003dzf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1675-1677)GCA>TCA		steroid-sensitive protein 1 precursor		C	SER/ALA,SER/ALA	1,4405	2.1+/-5.4	0,1,2202	139.0	117.0	125.0		1675,1675	0.7	0.3	3	dbSNP_134	125	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense	CCDC80	NM_199511.1,NM_199512.1	99,99	0,7,6496	AA,AC,CC		0.0698,0.0227,0.0538	benign,benign	559/951,559/951	112357078	7,12999	2203	4300	6503	SO:0001583	missense	151887							g.chr3:112357078C>A	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1675G>T	3.37:g.112357078C>A	ENSP00000206423:p.Ala559Ser					CCDC80_uc011bhv.1_Missense_Mutation_p.A559S|CCDC80_uc003dzg.2_Missense_Mutation_p.A559S|CCDC80_uc003dzh.1_Missense_Mutation_p.A559S	p.A559S	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			2	1893	-			559			Lys-rich.		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.1675G>T	CCDS2968.1	5	0.0022893772893772895	0	0.0	5	0.013812154696132596	0	0.0	0	0.0	C	1.915	-0.449703	0.04572	2.27E-4	6.98E-4	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.43294	0.95;0.95	5.78	0.725	0.18242	.	0.999652	0.08092	N	0.999149	T	0.20088	0.0483	N	0.14661	0.345	0.09310	N	0.999995	P;B;B	0.36438	0.553;0.072;0.418	B;B;B	0.35114	0.196;0.04;0.096	T	0.13442	-1.0509	10	0.20519	T	0.43	-0.051	13.8494	0.63487	0.0:0.6237:0.1991:0.1772	.	570;559;559	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	S	559;559;187	ENSP00000206423:A559S;ENSP00000411814:A559S	ENSP00000206423:A559S	A	-	1	0	CCDC80	113839768	0.118000	0.22208	0.291000	0.24904	0.520000	0.34377	-0.123000	0.10611	-0.137000	0.11455	-0.280000	0.10049	GCA		PASS	0.373	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		16	59	16	59	---	---	---	---
POPDC2	64091	broad.mit.edu	37	3	119367437	119367437	+	Nonsense_Mutation	SNP	G	G	A	rs371366869		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr3:119367437G>A	ENST00000264231.3	-	3	845	c.679C>T	c.(679-681)Cga>Tga	p.R227*	POPDC2_ENST00000468801.1_Nonsense_Mutation_p.R227*|POPDC2_ENST00000538678.1_Nonsense_Mutation_p.R227*|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000493094.1_Nonsense_Mutation_p.R227*	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	227					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)	p.R227*(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		GAGATGTATCGCTCTTTGGTC	0.507																																						uc003ecx.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(679-681)CGA>TGA		popeye protein 2		G	stop/ARG	0,4406		0,0,2203	55.0	55.0	55.0		679	4.8	1.0	3		55	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	POPDC2	NM_022135.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		227/365	119367437	1,13005	2203	4300	6503	SO:0001587	stop_gained	64091					integral to membrane		g.chr3:119367437G>A	AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.679C>T	3.37:g.119367437G>A	ENSP00000264231:p.Arg227*					POPDC2_uc010hqw.1_Nonsense_Mutation_p.R227*|POPDC2_uc003ecy.1_Nonsense_Mutation_p.R45*	p.R227*	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN		GBM - Glioblastoma multiforme(114;0.242)	3	813	-			227					Q86UE7	Nonsense_Mutation	SNP	ENST00000264231.3	37	c.679C>T	CCDS2992.1	.	.	.	.	.	.	.	.	.	.	G	36	5.810805	0.96975	0.0	1.16E-4	ENSG00000121577	ENST00000264231;ENST00000493094;ENST00000468801;ENST00000538678	.	.	.	4.75	4.75	0.60458	.	0.136041	0.49916	D	0.000122	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9723	0.58520	0.0:0.0:0.8384:0.1616	.	.	.	.	X	227	.	ENSP00000264231:R227X	R	-	1	2	POPDC2	120850127	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.593000	0.82686	2.454000	0.82982	0.462000	0.41574	CGA		PASS	0.507	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	NM_022135		14	57	14	57	---	---	---	---
CCDC37	348807	broad.mit.edu	37	3	126152023	126152023	+	Silent	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr3:126152023C>T	ENST00000352312.1	+	14	1497	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	CCDC37_ENST00000393425.1_Silent_p.F467F|CCDC37_ENST00000505024.1_Silent_p.F467F	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	466								p.F466F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TCTTCCACTTCGGCGAGTACA	0.597																																						uc003eiu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1396-1398)TTC>TTT		coiled-coil domain containing 37							127.0	118.0	121.0					3																	126152023		2203	4300	6503	SO:0001819	synonymous_variant	348807							g.chr3:126152023C>T	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1398C>T	3.37:g.126152023C>T						CCDC37_uc010hsg.1_Silent_p.F467F	p.F466F	NM_182628	NP_872434	Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	14	1497	+			466					D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	ENST00000352312.1	37	c.1398C>T	CCDS3037.1																																																																																				PASS	0.597	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		5	216	5	216	---	---	---	---
PSMD2	5708	broad.mit.edu	37	3	184020241	184020241	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr3:184020241C>T	ENST00000310118.4	+	6	1346	c.788C>T	c.(787-789)cCt>cTt	p.P263L	PSMD2_ENST00000435761.1_Missense_Mutation_p.P104L|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.P133L	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	263					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)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|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 protein catabolic process (GO:0042176)|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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.P263L(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	AGCCGCTTCCCTGAAGCTCTG	0.478																																					Colon(24;313 636 6917 9932 15554)	uc003fnn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(787-789)CCT>CTT		proteasome 26S non-ATPase subunit 2	Bortezomib(DB00188)						109.0	99.0	103.0					3																	184020241		2203	4300	6503	SO:0001583	missense	5708				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|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184020241C>T	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.788C>T	3.37:g.184020241C>T	ENSP00000310129:p.Pro263Leu					PSMD2_uc011brj.1_Missense_Mutation_p.P104L|PSMD2_uc011brk.1_Missense_Mutation_p.P133L	p.P263L	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		6	821	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		263					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	37	c.788C>T	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764246	0.69878	.	.	ENSG00000175166	ENST00000310118;ENST00000417952;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.40756	1.87;1.02;1.02	5.37	5.37	0.77165	Armadillo-type fold (1);	0.053932	0.85682	D	0.000000	T	0.51007	0.1649	M	0.86502	2.82	0.80722	D	1	B;P	0.41313	0.014;0.745	B;B	0.37346	0.01;0.247	T	0.56986	-0.7888	10	0.30078	T	0.28	-16.4499	18.9113	0.92487	0.0:1.0:0.0:0.0	.	104;263	E9PCS3;Q13200	.;PSMD2_HUMAN	L	263;188;255;104;133	ENSP00000310129:P263L;ENSP00000402618:P104L;ENSP00000416028:P133L	ENSP00000310129:P263L	P	+	2	0	PSMD2	185502935	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.581000	0.82535	2.798000	0.96311	0.536000	0.68110	CCT		PASS	0.478	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		121	74	121	74	---	---	---	---
TBCCD1	55171	broad.mit.edu	37	3	186272063	186272063	+	Silent	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr3:186272063C>T	ENST00000424280.1	-	6	2003	c.1524G>A	c.(1522-1524)gtG>gtA	p.V508V	TBCCD1_ENST00000446782.1_Silent_p.V412V|TBCCD1_ENST00000479590.1_5'UTR|TBCCD1_ENST00000338733.5_Silent_p.V508V	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	508					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)		p.V508V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		GAGCCTCCTTCACAGTTTTCT	0.403																																						uc003fqg.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1522-1524)GTG>GTA		TBCC domain containing 1							77.0	85.0	82.0					3																	186272063		2202	4300	6502	SO:0001819	synonymous_variant	55171				cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding	g.chr3:186272063C>T	BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.1524G>A	3.37:g.186272063C>T						TBCCD1_uc011bry.1_Silent_p.V508V|TBCCD1_uc003fqh.2_Silent_p.V412V	p.V508V	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)	6	1653	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		508					B3KW69|D3DNU6|G5E9J4	Silent	SNP	ENST00000424280.1	37	c.1524G>A	CCDS3276.1																																																																																				PASS	0.403	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138		170	125	170	125	---	---	---	---
ACAP2	23527	broad.mit.edu	37	3	195017976	195017976	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr3:195017976C>T	ENST00000326793.6	-	16	1660	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	477	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.R477Q(1)		cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTCATAAACTCGATTTATAAC	0.308																																						uc003fun.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1429-1431)CGA>CAA		centaurin, beta 2							147.0	146.0	146.0					3																	195017976		2203	4297	6500	SO:0001583	missense	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195017976C>T		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1430G>A	3.37:g.195017976C>T	ENSP00000324287:p.Arg477Gln						p.R477Q	NM_012287	NP_036419	Q15057	ACAP2_HUMAN			16	1671	-			477			Arf-GAP.		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	c.1430G>A	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741511	0.30865	.	.	ENSG00000114331	ENST00000326793	T	0.42131	0.98	5.08	4.21	0.49690	.	0.170218	0.52532	D	0.000076	T	0.18676	0.0448	N	0.04203	-0.255	0.44092	D	0.996852	B	0.18610	0.029	B	0.16722	0.016	T	0.11842	-1.0571	10	0.05351	T	0.99	.	12.8865	0.58047	0.0:0.9213:0.0:0.0787	.	477	Q15057	ACAP2_HUMAN	Q	477	ENSP00000324287:R477Q	ENSP00000324287:R477Q	R	-	2	0	ACAP2	196499265	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.238000	0.43070	1.288000	0.44600	-0.142000	0.14014	CGA		PASS	0.308	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		6	49	6	49	---	---	---	---
ZNF595	152687	broad.mit.edu	37	4	59997	59997	+	Silent	SNP	A	A	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr4:59997A>T	ENST00000509152.2	+	3	362	c.177A>T	c.(175-177)atA>atT	p.I59I	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Silent_p.I59I			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	59	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.I59I(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TGGAGCAAATAAAAGAGCCCT	0.453																																						uc003fzt.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(175-177)AGA>AGT		zinc finger protein 718							117.0	125.0	123.0					4																	59997		2178	4295	6473	SO:0001819	synonymous_variant	255403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:59997A>T	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.177A>T	4.37:g.59997A>T						ZNF595_uc003fzu.1_RNA|ZNF595_uc010iay.1_RNA|ZNF595_uc003fzv.1_Silent_p.I59I|ZNF595_uc011bus.1_Intron|ZNF595_uc011but.1_Intron	p.R59S	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	7	310	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	59			KRAB.			Missense_Mutation	SNP	ENST00000509152.2	37	c.177A>T																																																																																					PASS	0.453	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		4	62	4	62	---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5577977	5577977	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr4:5577977G>T	ENST00000344408.5	-	18	3315	c.3262C>A	c.(3262-3264)Cat>Aat	p.H1088N	EVC2_ENST00000310917.2_Missense_Mutation_p.H1008N|EVC2_ENST00000344938.1_Missense_Mutation_p.H1088N	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1088					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.H1088N(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CACTGCTGATGTTGCTCCAGT	0.562																																						uc003gij.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)	5						c.(3262-3264)CAT>AAT		limbin							118.0	113.0	114.0					4																	5577977		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5577977G>T	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3262C>A	4.37:g.5577977G>T	ENSP00000342144:p.His1088Asn					EVC2_uc011bwb.1_Missense_Mutation_p.H528N|EVC2_uc003gik.2_Missense_Mutation_p.H1008N	p.H1088N	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			18	3316	-			1088			Potential.		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.3262C>A	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	G	4.220	0.039722	0.08148	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.74421	-0.84;-0.83;-0.84	5.38	4.53	0.55603	.	0.312805	0.31279	N	0.007932	T	0.59918	0.2229	L	0.29908	0.895	0.09310	N	1	P	0.40144	0.704	B	0.36922	0.236	T	0.51156	-0.8741	10	0.28530	T	0.3	-7.0532	10.421	0.44350	0.0917:0.0:0.9083:0.0	.	1088	Q86UK5	LBN_HUMAN	N	1088;1008;1088	ENSP00000339954:H1088N;ENSP00000311683:H1008N;ENSP00000342144:H1088N	ENSP00000311683:H1008N	H	-	1	0	EVC2	5628878	0.142000	0.22610	0.023000	0.16930	0.044000	0.14063	1.684000	0.37649	1.253000	0.44018	0.491000	0.48974	CAT		PASS	0.562	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		95	66	95	66	---	---	---	---
CLRN2	645104	broad.mit.edu	37	4	17528554	17528554	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr4:17528554A>G	ENST00000511148.2	+	3	650	c.548A>G	c.(547-549)gAa>gGa	p.E183G	snoU13_ENST00000459186.1_RNA	NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	183						integral component of membrane (GO:0016021)		p.E200G(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GTGGTGGAAGAACAGTATGAA	0.532																																						uc003gpg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(547-549)GAA>GGA		clarin 2							108.0	117.0	114.0					4																	17528554		2143	4249	6392	SO:0001583	missense	645104					integral to membrane		g.chr4:17528554A>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.548A>G	4.37:g.17528554A>G	ENSP00000424711:p.Glu183Gly						p.E183G	NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN			3	650	+			183						Missense_Mutation	SNP	ENST00000511148.2	37	c.548A>G	CCDS47032.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653111	0.88056	.	.	ENSG00000249581	ENST00000511148	D	0.82344	-1.6	5.76	5.76	0.90799	.	0.108331	0.64402	D	0.000007	D	0.88833	0.6544	M	0.68593	2.085	0.52501	D	0.999959	D	0.61080	0.989	P	0.60236	0.871	D	0.89657	0.3874	10	0.62326	D	0.03	-20.2186	15.7393	0.77876	1.0:0.0:0.0:0.0	.	183	A0PK11	CLRN2_HUMAN	G	183	ENSP00000424711:E183G	ENSP00000424711:E183G	E	+	2	0	CLRN2	17137652	1.000000	0.71417	0.149000	0.22428	0.917000	0.54804	8.452000	0.90346	2.209000	0.71365	0.533000	0.62120	GAA		PASS	0.532	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827		17	35	17	35	---	---	---	---
G3BP2	9908	broad.mit.edu	37	4	76573882	76573882	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr4:76573882C>T	ENST00000359707.4	-	9	1654	c.869G>A	c.(868-870)cGt>cAt	p.R290H	G3BP2_ENST00000357854.3_Missense_Mutation_p.R257H|G3BP2_ENST00000395719.3_Missense_Mutation_p.R290H	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	290					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.R290H(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)			TTCACGCACACGAGGTGGCTG	0.408																																						uc003hir.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|central_nervous_system(1)	3						c.(868-870)CGT>CAT		Ras-GTPase activating protein SH3 domain-binding							103.0	92.0	96.0					4																	76573882		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.chr4:76573882C>T	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.869G>A	4.37:g.76573882C>T	ENSP00000352738:p.Arg290His					G3BP2_uc003his.2_Missense_Mutation_p.R290H|G3BP2_uc003hit.2_Missense_Mutation_p.R257H	p.R290H	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		9	1034	-			290					A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	c.869G>A	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.209232	0.79240	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	T;T;T	0.78707	-1.2;-1.2;-1.18	5.96	5.96	0.96718	.	0.048184	0.85682	D	0.000000	D	0.87366	0.6159	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.991;0.981	D	0.85973	0.1478	10	0.49607	T	0.09	.	20.3928	0.98949	0.0:1.0:0.0:0.0	.	257;290	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	H	290;290;257	ENSP00000379069:R290H;ENSP00000352738:R290H;ENSP00000350518:R257H	ENSP00000350518:R257H	R	-	2	0	G3BP2	76792906	1.000000	0.71417	0.998000	0.56505	0.151000	0.21798	6.639000	0.74314	2.813000	0.96785	0.655000	0.94253	CGT		PASS	0.408	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		12	7	12	7	---	---	---	---
PDHA2	5161	broad.mit.edu	37	4	96761711	96761711	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr4:96761711C>T	ENST00000295266.4	+	1	473	c.410C>T	c.(409-411)aCg>aTg	p.T137M		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	137					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.T137M(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GCAGAGCTGACGGGAAGAAGA	0.527																																						uc003htr.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(409-411)ACG>ATG		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						99.0	90.0	93.0					4																	96761711		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761711C>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.410C>T	4.37:g.96761711C>T	ENSP00000295266:p.Thr137Met						p.T137M	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	473	+		Hepatocellular(203;0.114)	137					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.410C>T	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612113	0.28712	.	.	ENSG00000163114	ENST00000295266	D	0.95885	-3.84	4.77	3.93	0.45458	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.94830	0.8330	L	0.33339	1.005	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92057	0.5653	10	0.22109	T	0.4	-24.5207	8.9334	0.35684	0.0:0.899:0.0:0.101	.	137	P29803	ODPAT_HUMAN	M	137	ENSP00000295266:T137M	ENSP00000295266:T137M	T	+	2	0	PDHA2	96980734	1.000000	0.71417	0.671000	0.29857	0.270000	0.26580	5.328000	0.65887	1.380000	0.46344	0.467000	0.42956	ACG		PASS	0.527	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			4	105	4	105	---	---	---	---
ZGRF1	55345	broad.mit.edu	37	4	113505305	113505305	+	Missense_Mutation	SNP	C	C	G	rs112544380		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr4:113505305C>G	ENST00000505019.1	-	15	4252	c.4127G>C	c.(4126-4128)gGa>gCa	p.G1376A		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1376						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.G1376A(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGCTTTGGGTCCATCACATGT	0.368																																						uc003iau.2																			1	Substitution - Missense(1)		lung(1)		0						c.(4126-4128)GGA>GCA		prematurely terminated mRNA decay factor-like							57.0	54.0	55.0					4																	113505305		2203	4300	6503	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113505305C>G																												ENST00000505019.1:c.4127G>C	4.37:g.113505305C>G	ENSP00000424737:p.Gly1376Ala					C4orf21_uc003iav.2_RNA	p.G1376A	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	15	4338	-		Ovarian(17;0.156)	198					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.4127G>C		.	.	.	.	.	.	.	.	.	.	C	1.964	-0.438254	0.04636	.	.	ENSG00000138658	ENST00000505019	T	0.20463	2.07	5.65	1.67	0.24075	.	1.021860	0.07806	N	0.957363	T	0.07007	0.0178	N	0.01009	-1.055	0.58432	D	0.999999	B	0.20261	0.043	B	0.15052	0.012	T	0.36866	-0.9730	10	0.06099	T	0.92	-2.3207	12.7159	0.57115	0.0:0.3673:0.5558:0.0769	.	1376	G5EA02	.	A	1376	ENSP00000424737:G1376A	ENSP00000404365:G274A	G	-	2	0	C4orf21	113724754	1.000000	0.71417	0.906000	0.35671	0.986000	0.74619	1.757000	0.38400	0.372000	0.24591	-0.181000	0.13052	GGA		PASS	0.368	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			3	6	3	6	---	---	---	---
PLK4	10733	broad.mit.edu	37	4	128819593	128819593	+	Splice_Site	SNP	G	G	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr4:128819593G>C	ENST00000270861.5	+	16	3084		c.e16-1		PLK4_ENST00000507249.1_Splice_Site|PLK4_ENST00000514379.1_Splice_Site|PLK4_ENST00000513090.1_Splice_Site|PLK4_ENST00000515069.1_Splice_Site	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4						centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GCTTCACTTAGGTATGGAGAA	0.313																																					Colon(135;508 1718 19061 31832 42879)	uc003ifo.2																			1	Unknown(1)		lung(1)		0						c.e16-1		polo-like kinase 4							95.0	94.0	94.0					4																	128819593		2202	4295	6497	SO:0001630	splice_region_variant	10733				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128819593G>C	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2811-1G>C	4.37:g.128819593G>C						PLK4_uc011cgs.1_Splice_Site_p.R905_splice|PLK4_uc011cgt.1_Splice_Site_p.R896_splice	p.R937_splice	NM_014264	NP_055079	O00444	PLK4_HUMAN			16	3056	+								B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Splice_Site	SNP	ENST00000270861.5	37	c.2811_splice	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036932	0.75617	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379;ENST00000508113	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3871	0.94563	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLK4	129039043	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.419000	0.90253	2.821000	0.97095	0.484000	0.47621	.		PASS	0.313	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3		Intron	6	13	6	13	---	---	---	---
PCDH18	54510	broad.mit.edu	37	4	138453011	138453011	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr4:138453011C>A	ENST00000344876.4	-	1	618	c.232G>T	c.(232-234)Gta>Tta	p.V78L	PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.V78L|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	78	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V78L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCGTTTACTACAAGTAGAGGA	0.423																																						uc003ihe.3																			1	Substitution - Missense(1)		lung(1)	pancreas(3)|skin(2)	5						c.(232-234)GTA>TTA		protocadherin 18 precursor							153.0	150.0	151.0					4																	138453011		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138453011C>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.232G>T	4.37:g.138453011C>A	ENSP00000355082:p.Val78Leu					PCDH18_uc003ihf.3_Missense_Mutation_p.V71L|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Intron|PCDH18_uc011cha.1_Intron	p.V78L	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			1	619	-	all_hematologic(180;0.24)		78			Extracellular (Potential).|Cadherin 1.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.232G>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	7.343	0.621370	0.14193	.	.	ENSG00000189184	ENST00000344876;ENST00000412923	T;T	0.26810	1.71;1.71	5.44	2.57	0.30868	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.987597	0.08203	U	0.982003	T	0.13884	0.0336	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.0;0.005	B;B	0.15870	0.0;0.014	T	0.23940	-1.0174	10	0.52906	T	0.07	.	6.877	0.24153	0.0:0.644:0.1373:0.2187	.	78;78	Q9HCL0-2;Q9HCL0	.;PCD18_HUMAN	L	78	ENSP00000355082:V78L;ENSP00000390688:V78L	ENSP00000355082:V78L	V	-	1	0	PCDH18	138672461	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	0.342000	0.19926	0.854000	0.35336	0.650000	0.86243	GTA		PASS	0.423	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		4	91	4	91	---	---	---	---
ASB5	140458	broad.mit.edu	37	4	177142317	177142317	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr4:177142317A>G	ENST00000296525.3	-	5	772	c.659T>C	c.(658-660)cTt>cCt	p.L220P	ASB5_ENST00000512254.1_Missense_Mutation_p.L167P|ASB5_ENST00000511879.1_5'Flank	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	220					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.L220P(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AGCATAAAGAAGCTTCCAGAT	0.368																																						uc003iuq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(658-660)CTT>CCT		ankyrin repeat and SOCS box-containing protein							72.0	70.0	71.0					4																	177142317		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177142317A>G	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.659T>C	4.37:g.177142317A>G	ENSP00000296525:p.Leu220Pro					ASB5_uc003iup.1_Missense_Mutation_p.L167P	p.L220P	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	5	675	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	220			ANK 5.		Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.659T>C	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.352368	0.82132	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.78924	-1.22;-1.22	5.91	5.91	0.95273	Ankyrin repeat-containing domain (4);	0.110853	0.64402	D	0.000011	D	0.92776	0.7703	H	0.98256	4.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.95304	0.8406	10	0.87932	D	0	-16.7611	16.3453	0.83126	1.0:0.0:0.0:0.0	.	220;167	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	P	220;167	ENSP00000296525:L220P;ENSP00000422877:L167P	ENSP00000296525:L220P	L	-	2	0	ASB5	177379311	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.384000	0.90160	2.261000	0.74972	0.533000	0.62120	CTT		PASS	0.368	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			14	14	14	14	---	---	---	---
SLC6A3	6531	broad.mit.edu	37	5	1443164	1443164	+	Missense_Mutation	SNP	G	G	A	rs146798197		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr5:1443164G>A	ENST00000270349.9	-	2	276	c.149C>T	c.(148-150)cCg>cTg	p.P50L	SLC6A3_ENST00000453492.2_Missense_Mutation_p.P50L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	50					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)	p.P50L(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GCTCTGCCGCGGGTTGGTGAG	0.632																																						uc003jck.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)	6						c.(148-150)CCG>CTG		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	G	LEU/PRO	0,4406		0,0,2203	70.0	68.0	68.0		149	4.4	0.0	5	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC6A3	NM_001044.4	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	50/621	1443164	1,13005	2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1443164G>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.149C>T	5.37:g.1443164G>A	ENSP00000270349:p.Pro50Leu						p.P50L	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		2	270	-			50			Cytoplasmic (Potential).		A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.149C>T	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.000612	0.35320	0.0	1.16E-4	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.73575	-0.76;-0.76	4.4	4.4	0.53042	.	0.516289	0.18916	N	0.127608	T	0.69940	0.3167	M	0.62723	1.935	0.80722	D	1	P	0.43169	0.8	B	0.37387	0.248	T	0.71846	-0.4469	10	0.35671	T	0.21	.	14.4656	0.67482	0.0:0.0:1.0:0.0	.	50	Q01959	SC6A3_HUMAN	L	50	ENSP00000270349:P50L;ENSP00000399806:P50L	ENSP00000270349:P50L	P	-	2	0	SLC6A3	1496164	0.917000	0.31117	0.018000	0.16275	0.075000	0.17131	1.435000	0.34969	2.013000	0.59113	0.511000	0.50034	CCG		PASS	0.632	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		62	126	62	126	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21842269	21842269	+	Splice_Site	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr5:21842269C>T	ENST00000382254.1	-	8	1901		c.e8+1		CDH12_ENST00000521384.1_Splice_Site|CDH12_ENST00000504376.2_Splice_Site|CDH12_ENST00000522262.1_Splice_Site	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)						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.?(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGGTGACATACTTTTGGGGAA	0.408										HNSCC(59;0.17)																												uc010iuc.2																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e5+1		cadherin 12, type 2 preproprotein							281.0	217.0	239.0					5																	21842269		2203	4300	6503	SO:0001630	splice_region_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21842269C>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.814+1G>A	5.37:g.21842269C>T		HNSCC(59;0.17)				CDH12_uc011cno.1_Splice_Site_p.S232_splice|CDH12_uc003jgk.2_Splice_Site_p.S272_splice	p.S272_splice	NM_004061	NP_004052	P55289	CAD12_HUMAN			5	1272	-								B2RBT1|B7Z2U6|Q86UD2	Splice_Site	SNP	ENST00000382254.1	37	c.814_splice	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738129	0.89573	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9059	0.97007	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDH12	21878026	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.701000	0.84566	2.693000	0.91896	0.655000	0.94253	.		PASS	0.408	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	Intron	11	70	11	70	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23509677	23509677	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr5:23509677G>T	ENST00000296682.3	+	3	350	c.168G>T	c.(166-168)agG>agT	p.R56S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	56	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.R56S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATGTGAAAAGGAACTATAATG	0.423										HNSCC(3;0.000094)																												uc003jgo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(166-168)AGG>AGT		PR domain containing 9							176.0	163.0	167.0					5																	23509677		1877	4110	5987	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23509677G>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.168G>T	5.37:g.23509677G>T	ENSP00000296682:p.Arg56Ser	HNSCC(3;0.000094)					p.R56S	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			3	350	+			56			KRAB-related.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.168G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931439	0.52866	.	.	ENSG00000164256	ENST00000502755;ENST00000296682	T;T	0.00801	5.68;5.68	2.93	-0.133	0.13485	Krueppel-associated box-related (1);Krueppel-associated box (3);	.	.	.	.	T	0.02304	0.0071	L	0.45352	1.415	0.23926	N	0.996441	D	0.62365	0.991	D	0.76071	0.987	T	0.49428	-0.8941	9	0.87932	D	0	-3.3683	3.2612	0.06849	0.2782:0.2244:0.4974:0.0	.	56	Q9NQV7	PRDM9_HUMAN	S	56	ENSP00000425471:R56S;ENSP00000296682:R56S	ENSP00000296682:R56S	R	+	3	2	PRDM9	23545434	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	2.587000	0.46128	-0.044000	0.13491	0.609000	0.83330	AGG		PASS	0.423	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		40	92	40	92	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33643489	33643489	+	Silent	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr5:33643489C>T	ENST00000504830.1	-	10	1901	c.1566G>A	c.(1564-1566)gaG>gaA	p.E522E	ADAMTS12_ENST00000352040.3_Silent_p.E522E|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	522	Disintegrin.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E522E(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCACCTTCTTCTCACCACATT	0.547										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1564-1566)GAG>GAA		ADAM metallopeptidase with thrombospondin type 1							157.0	148.0	151.0					5																	33643489		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33643489C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1566G>A	5.37:g.33643489C>T		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.E522E	p.E522E	NM_030955	NP_112217	P58397	ATS12_HUMAN			10	1729	-			522			Disintegrin.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.1566G>A	CCDS34140.1																																																																																				PASS	0.547	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		31	66	31	66	---	---	---	---
CD180	4064	broad.mit.edu	37	5	66478990	66478990	+	Missense_Mutation	SNP	G	G	A	rs150000308		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr5:66478990G>A	ENST00000256447.4	-	3	1838	c.1681C>T	c.(1681-1683)Cgt>Tgt	p.R561C	CTD-2306M10.1_ENST00000602471.1_lincRNA	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	561					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R561C(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GGGAGGAGACGGGGTGAGATG	0.453																																						uc003juy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1681-1683)CGT>TGT		CD180 molecule precursor		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	80.0	63.0	69.0		1681	0.9	0.0	5	dbSNP_134	69	0,8600		0,0,4300	no	missense	CD180	NM_005582.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	561/662	66478990	1,13005	2203	4300	6503	SO:0001583	missense	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66478990G>A	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1681C>T	5.37:g.66478990G>A	ENSP00000256447:p.Arg561Cys						p.R561C	NM_005582	NP_005573	Q99467	CD180_HUMAN		Lung(70;0.0046)	3	1829	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	561			LRR 19.|Extracellular (Potential).		B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	c.1681C>T	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	G	6.758	0.508738	0.12883	2.27E-4	0.0	ENSG00000134061	ENST00000256447	T	0.08102	3.13	4.95	0.855	0.19013	.	1.960330	0.02275	N	0.068864	T	0.06325	0.0163	L	0.35542	1.07	0.09310	N	1	P	0.38280	0.625	B	0.26202	0.067	T	0.32188	-0.9916	10	0.62326	D	0.03	.	4.0422	0.09756	0.0843:0.1984:0.4952:0.222	.	561	Q99467	CD180_HUMAN	C	561	ENSP00000256447:R561C	ENSP00000256447:R561C	R	-	1	0	CD180	66514746	0.000000	0.05858	0.001000	0.08648	0.419000	0.31324	0.695000	0.25527	0.624000	0.30286	0.563000	0.77884	CGT		PASS	0.453	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		25	24	25	24	---	---	---	---
XRCC4	7518	broad.mit.edu	37	5	82499434	82499434	+	Silent	SNP	G	G	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr5:82499434G>C	ENST00000511817.1	+	5	626	c.546G>C	c.(544-546)ctG>ctC	p.L182L	XRCC4_ENST00000338635.6_Silent_p.L182L|XRCC4_ENST00000396027.4_Silent_p.L182L|XRCC4_ENST00000282268.3_Silent_p.L182L|XRCC4_ENST00000509268.1_3'UTR			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	182	Interacts with LIG4.				cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)	p.L182L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		GGTTTATTCTGGTGTTGAATG	0.313								Non-homologous end-joining																														uc003kib.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(544-546)CTG>CTC	NHEJ	X-ray repair cross complementing protein 4							86.0	93.0	91.0					5																	82499434		2203	4300	6503	SO:0001819	synonymous_variant	7518				DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding	g.chr5:82499434G>C	AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"""X-ray repair, complementing defective, repair in Chinese hamster"", ""DNA repair protein XRCC4"""	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.546G>C	5.37:g.82499434G>C						XRCC4_uc003kia.1_Silent_p.L182L|XRCC4_uc003kid.2_Silent_p.L182L|XRCC4_uc003kic.2_Silent_p.L182L|XRCC4_uc003kie.2_Silent_p.L182L|XRCC4_uc003kif.1_Silent_p.L182L|XRCC4_uc003kig.2_5'Flank	p.L182L	NM_022406	NP_071801	Q13426	XRCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)	5	674	+		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)	182			Interacts with LIG4.		A8K3X4|Q9BS72|Q9UP94	Silent	SNP	ENST00000511817.1	37	c.546G>C	CCDS4059.1																																																																																				PASS	0.313	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1	NM_022550		11	27	11	27	---	---	---	---
POU5F2	134187	broad.mit.edu	37	5	93077080	93077080	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr5:93077080G>T	ENST00000510627.4	-	1	263	c.190C>A	c.(190-192)Ccc>Acc	p.P64T	RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron|POU5F2_ENST00000606183.1_5'Flank|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	64					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GGACCCAGGGGAATCCTCCAC	0.677																																						uc003kkl.1																			0					0						c.(190-192)CCC>ACC		POU domain class 5, transcription factor 2							17.0	20.0	19.0					5																	93077080		1918	4119	6037	SO:0001583	missense	134187					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:93077080G>T		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.190C>A	5.37:g.93077080G>T	ENSP00000464890:p.Pro64Thr					FAM172A_uc010jbd.2_Intron|FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron	p.P64T	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)	1	230	-		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	64					Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	ENST00000510627.4	37	c.190C>A	CCDS59489.1																																																																																				PASS	0.677	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		14	11	14	11	---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140779353	140779353	+	Intron	SNP	C	C	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr5:140779353C>A	ENST00000576222.1	+	1	2546				PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGAAACGACAACGCACCGC	0.682																																						uc003lkf.1																			0					0						c.(1657-1659)GAC>GAA		protocadherin gamma subfamily B, 5 isoform 1							28.0	36.0	34.0					5																	140779353		2065	4214	6279	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140779353C>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+26977C>A	5.37:g.140779353C>A						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_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.D553E	p.D553E	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1659	+			553			Extracellular (Potential).|Cadherin 5.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1659C>A	CCDS58980.1																																																																																				PASS	0.682	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		8	32	8	32	---	---	---	---
WWC1	23286	broad.mit.edu	37	5	167882517	167882517	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr5:167882517G>T	ENST00000265293.4	+	19	3317	c.2815G>T	c.(2815-2817)Gtg>Ttg	p.V939L	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Missense_Mutation_p.V939L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	939	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|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)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)	p.V939L(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAGCCAGTACGTGTGCCGGGT	0.597																																						uc003lzu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|breast(1)	5						c.(2815-2817)GTG>TTG		WW and C2 domain containing 1 isoform 3							90.0	88.0	88.0					5																	167882517		2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167882517G>T	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2815G>T	5.37:g.167882517G>T	ENSP00000265293:p.Val939Leu					WWC1_uc003lzv.2_Missense_Mutation_p.V939L|WWC1_uc011den.1_Missense_Mutation_p.V939L|WWC1_uc003lzw.2_Missense_Mutation_p.V738L|WWC1_uc010jjf.1_Missense_Mutation_p.V211L	p.V939L	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	19	2908	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	939			Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.2815G>T	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.30|17.30	3.354456|3.354456	0.61293|0.61293	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000393895;ENST00000524228|ENST00000265293;ENST00000521089;ENST00000524038	.|T;T;T	.|0.52057	.|0.68;0.68;0.68	5.46|5.46	4.6|4.6	0.57074|0.57074	.|.	.|0.087086	.|0.56097	.|D	.|0.000037	T|T	0.40743|0.40743	0.1129|0.1129	L|L	0.43923|0.43923	1.385|1.385	0.42707|0.42707	D|D	0.99363|0.99363	.|P;P	.|0.51791	.|0.948;0.538	.|B;B	.|0.42555	.|0.391;0.129	T|T	0.39396|0.39396	-0.9616|-0.9616	5|10	.|0.59425	.|D	.|0.04	.|.	10.6816|10.6816	0.45817|0.45817	0.1455:0.0:0.8545:0.0|0.1455:0.0:0.8545:0.0	.|.	.|939;939	.|Q8IX03-2;Q8IX03	.|.;KIBRA_HUMAN	L|L	900;715|939;939;265	.|ENSP00000265293:V939L;ENSP00000427772:V939L;ENSP00000428084:V265L	.|ENSP00000265293:V939L	R|V	+|+	2|1	0|0	WWC1|WWC1	167815095|167815095	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.662000|0.662000	0.39071|0.39071	3.170000|3.170000	0.50816|0.50816	1.317000|1.317000	0.45149|0.45149	-0.123000|-0.123000	0.14984|0.14984	CGT|GTG		PASS	0.597	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		63	69	63	69	---	---	---	---
BTNL3	10917	broad.mit.edu	37	5	180424385	180424385	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr5:180424385T>A	ENST00000342868.6	+	3	754	c.570T>A	c.(568-570)gaT>gaA	p.D190E		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	190	Ig-like V-type.					integral component of membrane (GO:0016021)		p.D190E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GCCTGTATGATGTGGAGATCT	0.498																																						uc003mmr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(568-570)GAT>GAA		butyrophilin-like 3 precursor							104.0	94.0	98.0					5																	180424385		2133	3934	6067	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180424385T>A	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.570T>A	5.37:g.180424385T>A	ENSP00000341787:p.Asp190Glu						p.D190E	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		3	698	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	190			Ig-like V-type.|Extracellular (Potential).		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.570T>A	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822584	0.32237	.	.	ENSG00000168903	ENST00000342868	T	0.38401	1.14	3.94	-1.85	0.07784	Immunoglobulin-like (1);	.	.	.	.	T	0.25901	0.0631	L	0.54323	1.7	0.09310	N	1	P	0.38767	0.646	B	0.38194	0.267	T	0.22906	-1.0203	9	0.14252	T	0.57	.	4.4641	0.11680	0.0:0.2977:0.3304:0.3719	.	190	Q6UXE8	BTNL3_HUMAN	E	190	ENSP00000341787:D190E	ENSP00000341787:D190E	D	+	3	2	BTNL3	180356991	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.023000	0.13533	-0.414000	0.07495	0.438000	0.28831	GAT		PASS	0.498	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		24	9	24	9	---	---	---	---
GCM2	9247	broad.mit.edu	37	6	10877430	10877430	+	Missense_Mutation	SNP	C	C	A	rs550449754		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr6:10877430C>A	ENST00000379491.4	-	2	433	c.286G>T	c.(286-288)Ggt>Tgt	p.G96C	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	96					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)	p.G96C(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				AGGCGGGAACCGTCGGGCAGG	0.627																																						uc003mzn.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(286-288)GGT>TGT		glial cells missing homolog 2							76.0	69.0	72.0					6																	10877430		2203	4300	6503	SO:0001583	missense	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10877430C>A	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.286G>T	6.37:g.10877430C>A	ENSP00000368805:p.Gly96Cys					SYCP2L_uc011dim.1_Intron	p.G96C	NM_004752	NP_004743	O75603	GCM2_HUMAN			2	358	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	96			GCM.		D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	c.286G>T	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544800	0.86022	.	.	ENSG00000124827	ENST00000379491	D	0.85258	-1.96	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.92635	0.7660	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92939	0.6370	10	0.87932	D	0	-26.3182	19.8215	0.96599	0.0:1.0:0.0:0.0	.	96	O75603	GCM2_HUMAN	C	96	ENSP00000368805:G96C	ENSP00000368805:G96C	G	-	1	0	GCM2	10985416	1.000000	0.71417	0.986000	0.45419	0.580000	0.36256	7.434000	0.80377	2.679000	0.91253	0.650000	0.86243	GGT		PASS	0.627	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			4	144	4	144	---	---	---	---
HIST1H2AK	8330	broad.mit.edu	37	6	27806045	27806045	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr6:27806045G>T	ENST00000330180.2	-	1	72	c.73C>A	c.(73-75)Cag>Aag	p.Q25K	HIST1H2BN_ENST00000396980.3_5'Flank|HIST1H2BN_ENST00000606613.1_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	25						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.Q25K(1)		breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						ACTGGGAACTGAAGACCCGCC	0.612																																						uc003njs.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(73-75)CAG>AAG		histone cluster 1, H2ak							41.0	42.0	42.0					6																	27806045		2203	4300	6503	SO:0001583	missense	8330				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27806045G>T	Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"""Histones / Replication-dependent"""	4726	protein-coding gene	gene with protein product		602788	"""H2A histone family, member D"", ""histone 1, H2ak"""	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.73C>A	6.37:g.27806045G>T	ENSP00000330307:p.Gln25Lys					HIST1H2BN_uc003njt.1_5'Flank|HIST1H2BN_uc003nju.1_5'Flank|HIST1H2BN_uc003njv.2_5'Flank	p.Q25K	NM_003510	NP_003501	P0C0S8	H2A1_HUMAN			1	73	-			25					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000330180.2	37	c.73C>A	CCDS4632.1	.	.	.	.	.	.	.	.	.	.	.	12.45	1.940640	0.34283	.	.	ENSG00000184348	ENST00000330180	T	0.63913	-0.07	4.42	4.42	0.53409	.	0.000000	0.30168	U	0.010251	T	0.71333	0.3327	.	.	.	0.39447	D	0.967333	.	.	.	.	.	.	T	0.76512	-0.2932	7	0.87932	D	0	.	16.8868	0.86078	0.0:0.0:1.0:0.0	.	.	.	.	K	25	ENSP00000330307:Q25K	ENSP00000330307:Q25K	Q	-	1	0	HIST1H2AK	27914024	1.000000	0.71417	0.947000	0.38551	0.166000	0.22503	9.262000	0.95591	2.369000	0.80426	0.655000	0.94253	CAG		PASS	0.612	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043814.1	NM_003510		19	76	19	76	---	---	---	---
OR2W1	26692	broad.mit.edu	37	6	29012353	29012353	+	Silent	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr6:29012353G>A	ENST00000377175.1	-	1	664	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F200F(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TGCCTAAAGCGAAAACAGACA	0.423																																						uc003nlw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(598-600)TTC>TTT		olfactory receptor, family 2, subfamily W,							146.0	146.0	146.0					6																	29012353		1511	2709	4220	SO:0001819	synonymous_variant	26692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29012353G>A	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.600C>T	6.37:g.29012353G>A							p.F200F	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN			1	600	-			200			Helical; Name=5; (Potential).		B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Silent	SNP	ENST00000377175.1	37	c.600C>T	CCDS4656.1																																																																																				PASS	0.423	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			21	83	21	83	---	---	---	---
OR5V1	81696	broad.mit.edu	37	6	29323508	29323508	+	Silent	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr6:29323508G>A	ENST00000377154.1	-	4	764	c.465C>T	c.(463-465)aaC>aaT	p.N155N	OR5V1_ENST00000543825.1_Silent_p.N155N			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N155N(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCACCACTGAGTTAAGGAAAC	0.433																																					Ovarian(32;43 883 21137 32120 42650)	uc011dlo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|kidney(1)	4						c.(463-465)AAC>AAT		olfactory receptor, family 5, subfamily V,							85.0	83.0	83.0					6																	29323508		2203	4299	6502	SO:0001819	synonymous_variant	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323508G>A		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.465C>T	6.37:g.29323508G>A							p.N155N	NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN			1	547	-			155			Helical; Name=4; (Potential).		A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Silent	SNP	ENST00000377154.1	37	c.465C>T	CCDS4657.1																																																																																				PASS	0.433	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			17	26	17	26	---	---	---	---
ZBTB9	221504	broad.mit.edu	37	6	33423675	33423675	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr6:33423675G>T	ENST00000395064.2	+	2	1066	c.798G>T	c.(796-798)gaG>gaT	p.E266D		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	266	Pro-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.E266D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						CAGAGGGTGAGAGTGCACCAC	0.567																																						uc003oeq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(796-798)GAG>GAT		zinc finger and BTB domain containing 9							64.0	67.0	66.0					6																	33423675		2203	4300	6503	SO:0001583	missense	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423675G>T	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.798G>T	6.37:g.33423675G>T	ENSP00000378503:p.Glu266Asp						p.E266D	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN			2	1066	+			266			Pro-rich.		A2AB19	Missense_Mutation	SNP	ENST00000395064.2	37	c.798G>T	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.459355	0.01062	.	.	ENSG00000213588	ENST00000395064	T	0.07114	3.22	5.28	1.2	0.21068	.	3.312870	0.02080	N	0.052254	T	0.01592	0.0051	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.41592	-0.9500	10	0.19590	T	0.45	.	5.5284	0.16970	0.2718:0.1515:0.5767:0.0	.	266	Q96C00	ZBTB9_HUMAN	D	266	ENSP00000378503:E266D	ENSP00000378503:E266D	E	+	3	2	ZBTB9	33531653	0.379000	0.25123	0.378000	0.26068	0.807000	0.45602	0.720000	0.25896	0.367000	0.24454	-0.136000	0.14681	GAG		PASS	0.567	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		32	129	32	129	---	---	---	---
SUPT3H	8464	broad.mit.edu	37	6	44971458	44971458	+	Nonsense_Mutation	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr6:44971458G>A	ENST00000371459.1	-	6	601	c.436C>T	c.(436-438)Cag>Tag	p.Q146*	SUPT3H_ENST00000371461.2_Nonsense_Mutation_p.Q157*|SUPT3H_ENST00000306867.5_Nonsense_Mutation_p.Q146*|SUPT3H_ENST00000371460.1_Nonsense_Mutation_p.Q157*	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	228					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)	p.Q146*(1)|p.Q157*(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						TCTCCTGTCTGGTCAATAGAG	0.353																																						uc003oxo.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|breast(1)	3						c.(469-471)CAG>TAG		suppressor of Ty 3 homolog isoform 2							170.0	150.0	157.0					6																	44971458		2203	4299	6502	SO:0001587	stop_gained	8464				histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	g.chr6:44971458G>A	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.436C>T	6.37:g.44971458G>A	ENSP00000360514:p.Gln146*					SUPT3H_uc003oxn.1_Nonsense_Mutation_p.Q146*|SUPT3H_uc011dvv.1_5'UTR|SUPT3H_uc003oxp.2_Nonsense_Mutation_p.Q146*|SUPT3H_uc011dvw.1_Nonsense_Mutation_p.Q60*	p.Q157*	NM_181356	NP_852001	O75486	SUPT3_HUMAN			8	787	-			228					A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Nonsense_Mutation	SNP	ENST00000371459.1	37	c.469C>T	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	G	34	5.324868	0.95708	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000306867;ENST00000371461	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-15.6873	20.1823	0.98208	0.0:0.0:1.0:0.0	.	.	.	.	X	157;146;146;157	.	ENSP00000306718:Q146X	Q	-	1	0	SUPT3H	45079436	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.842000	0.86851	2.771000	0.95319	0.650000	0.86243	CAG		PASS	0.353	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356		4	29	4	29	---	---	---	---
IL17A	3605	broad.mit.edu	37	6	52053995	52053995	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr6:52053995G>T	ENST00000340057.1	+	3	418	c.373G>T	c.(373-375)Gag>Tag	p.E125*		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	125					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.E125*(1)		endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CCTGCGCAGGGAGCCTCCACA	0.597																																						uc003pak.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(373-375)GAG>TAG		interleukin 17A precursor							94.0	82.0	86.0					6																	52053995		2203	4300	6503	SO:0001587	stop_gained	3605				apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	g.chr6:52053995G>T	U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"""Interleukins and interleukin receptors"""	5981	protein-coding gene	gene with protein product	"""cytotoxic T-lymphocyte-associated protein 8"""	603149	"""interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"""	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.373G>T	6.37:g.52053995G>T	ENSP00000344192:p.Glu125*						p.E125*	NM_002190	NP_002181	Q16552	IL17_HUMAN			3	418	+	Lung NSC(77;0.116)		125					Q5T2P0	Nonsense_Mutation	SNP	ENST00000340057.1	37	c.373G>T	CCDS4937.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619880	0.66787	.	.	ENSG00000112115	ENST00000340057	.	.	.	5.46	4.58	0.56647	.	0.213843	0.43579	D	0.000556	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-14.8508	16.2887	0.82737	0.0:0.1327:0.8673:0.0	.	.	.	.	X	125	.	ENSP00000344192:E125X	E	+	1	0	IL17A	52161954	1.000000	0.71417	0.027000	0.17364	0.438000	0.31896	2.366000	0.44204	1.287000	0.44583	0.609000	0.83330	GAG		PASS	0.597	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040892.1	NM_002190		17	23	17	23	---	---	---	---
GJA10	84694	broad.mit.edu	37	6	90604623	90604623	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr6:90604623A>G	ENST00000369352.1	+	1	436	c.436A>G	c.(436-438)Aaa>Gaa	p.K146E		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	146					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.K146E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GAGGATCCATAAAGTCCCTCT	0.448																																						uc011eaa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)AAA>GAA		gap junction protein, alpha 10							110.0	107.0	108.0					6																	90604623		2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90604623A>G	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.436A>G	6.37:g.90604623A>G	ENSP00000358358:p.Lys146Glu						p.K146E	NM_032602	NP_115991	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	436	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	146			Cytoplasmic (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.436A>G	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.384414	0.82792	.	.	ENSG00000135355	ENST00000369352	D	0.97850	-4.57	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.98223	0.9412	M	0.70595	2.14	0.53688	D	0.999974	D	0.89917	1.0	D	0.87578	0.998	D	0.99787	1.1030	10	0.87932	D	0	.	14.724	0.69329	1.0:0.0:0.0:0.0	.	146	Q969M2	CXA10_HUMAN	E	146	ENSP00000358358:K146E	ENSP00000358358:K146E	K	+	1	0	GJA10	90661344	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	8.956000	0.93066	2.079000	0.62486	0.460000	0.39030	AAA		PASS	0.448	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		44	49	44	49	---	---	---	---
HACE1	57531	broad.mit.edu	37	6	105219851	105219851	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr6:105219851T>A	ENST00000262903.4	-	18	2239	c.1963A>T	c.(1963-1965)Agg>Tgg	p.R655W	HACE1_ENST00000369125.2_Intron|HACE1_ENST00000517995.1_5'UTR	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	655	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.R655W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		ACCAGCTGCCTGTGGTTCAAC	0.368																																						uc003pqu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)	7						c.(1963-1965)AGG>TGG		HECT domain and ankyrin repeat containing, E3							105.0	99.0	101.0					6																	105219851		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105219851T>A	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.1963A>T	6.37:g.105219851T>A	ENSP00000262903:p.Arg655Trp					HACE1_uc010kcy.1_Missense_Mutation_p.R137W|HACE1_uc010kcz.1_Intron|HACE1_uc010kcx.1_Missense_Mutation_p.R64W|HACE1_uc003pqt.1_Missense_Mutation_p.R308W	p.R655W	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	18	2240	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	655			HECT.		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.1963A>T	CCDS5050.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.6|23.6	4.440826|4.440826	0.83993|0.83993	.|.	.|.	ENSG00000085382|ENSG00000085382	ENST00000518503;ENST00000518402|ENST00000262903	.|T	.|0.45276	.|0.9	5.58|5.58	5.58|5.58	0.84498|0.84498	.|HECT (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60157|0.60157	0.2247|0.2247	M|M	0.79805|0.79805	2.47|2.47	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;0.999;1.0	.|D;D;D	.|0.76071	.|0.98;0.986;0.987	T|T	0.67078|0.67078	-0.5761|-0.5761	5|10	.|0.72032	.|D	.|0.01	.|.	15.7443|15.7443	0.77926|0.77926	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|144;655;308	.|B4DFM6;Q8IYU2;Q8IYU2-3	.|.;HACE1_HUMAN;.	L|W	137;89|655	.|ENSP00000262903:R655W	.|ENSP00000262903:R655W	Q|R	-|-	2|1	0|2	HACE1|HACE1	105326544|105326544	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.914000|0.914000	0.54420|0.54420	6.174000|6.174000	0.71943|0.71943	2.116000|2.116000	0.64780|0.64780	0.460000|0.460000	0.39030|0.39030	CAG|AGG		PASS	0.368	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		14	28	14	28	---	---	---	---
MOXD1	26002	broad.mit.edu	37	6	132618998	132618998	+	Silent	SNP	G	G	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr6:132618998G>C	ENST00000367963.3	-	11	1723	c.1605C>G	c.(1603-1605)ctC>ctG	p.L535L	MOXD1_ENST00000336749.3_Silent_p.L467L	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	535						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.L467L(1)|p.L535L(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)		TGTTGAAGGAGAGACCTTCCT	0.423																																						uc003qdf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1603-1605)CTC>CTG		monooxygenase, DBH-like 1 isoform 2							124.0	114.0	117.0					6																	132618998		2203	4300	6503	SO:0001819	synonymous_variant	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132618998G>C	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.1605C>G	6.37:g.132618998G>C						MOXD1_uc003qde.2_Silent_p.L467L	p.L535L	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	11	1704	-	Breast(56;0.0495)		535			Lumenal (Potential).		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Silent	SNP	ENST00000367963.3	37	c.1605C>G	CCDS5152.2																																																																																				PASS	0.423	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		3	37	3	37	---	---	---	---
TAAR1	134864	broad.mit.edu	37	6	132967052	132967052	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr6:132967052C>G	ENST00000275216.1	-	1	90	c.91G>C	c.(91-93)Gtg>Ctg	p.V31L		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	31					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.V31L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	ATTATGAGCACCATTAAACTG	0.388																																						uc003qdm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(91-93)GTG>CTG		trace amine associated receptor 1	Amphetamine(DB00182)						181.0	177.0	178.0					6																	132967052		2203	4300	6503	SO:0001583	missense	134864					plasma membrane		g.chr6:132967052C>G	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.91G>C	6.37:g.132967052C>G	ENSP00000275216:p.Val31Leu						p.V31L	NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	1	91	-	Breast(56;0.135)		31			Helical; Name=1; (Potential).		Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	ENST00000275216.1	37	c.91G>C	CCDS5158.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268741	0.23136	.	.	ENSG00000146399	ENST00000275216	T	0.10860	2.83	5.63	-0.0494	0.13835	.	0.618743	0.16262	N	0.222167	T	0.01222	0.0040	N	0.16368	0.405	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.47195	-0.9136	10	0.07644	T	0.81	-1.9435	5.735	0.18061	0.3225:0.4625:0.0:0.215	.	31	Q96RJ0	TAAR1_HUMAN	L	31	ENSP00000275216:V31L	ENSP00000275216:V31L	V	-	1	0	TAAR1	133008745	0.492000	0.26027	0.920000	0.36463	0.843000	0.47879	1.089000	0.30890	0.280000	0.22209	0.555000	0.69702	GTG		PASS	0.388	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327		31	93	31	93	---	---	---	---
PHACTR2	9749	broad.mit.edu	37	6	144074909	144074909	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr6:144074909A>T	ENST00000427704.2	+	4	411	c.281A>T	c.(280-282)aAc>aTc	p.N94I	PHACTR2_ENST00000367584.4_Missense_Mutation_p.N162I|PHACTR2_ENST00000305766.6_Missense_Mutation_p.N94I|PHACTR2_ENST00000440869.2_Missense_Mutation_p.N105I|PHACTR2_ENST00000397980.3_Missense_Mutation_p.N105I|PHACTR2_ENST00000367582.3_Missense_Mutation_p.N105I	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	94							protein phosphatase inhibitor activity (GO:0004864)	p.N105I(1)|p.N94I(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GTAACAGTTAACTTTGAAAAT	0.373																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	uc003qjq.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(280-282)AAC>ATC		phosphatase and actin regulator 2 isoform 3							82.0	75.0	77.0					6																	144074909		1822	4092	5914	SO:0001583	missense	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144074909A>T	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.281A>T	6.37:g.144074909A>T	ENSP00000391763:p.Asn94Ile					PHACTR2_uc010khh.2_Missense_Mutation_p.N94I|PHACTR2_uc010khi.2_Missense_Mutation_p.N105I|PHACTR2_uc003qjr.3_Missense_Mutation_p.N105I	p.N94I	NM_014721	NP_055536	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	4	411	+			94					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	ENST00000427704.2	37	c.281A>T	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409674	0.83340	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582;ENST00000542769;ENST00000397980	T;T;T;T;T;T	0.49720	1.42;1.83;1.43;1.83;1.43;0.77	6.16	6.16	0.99307	.	0.259515	0.44688	D	0.000421	T	0.54498	0.1862	L	0.49350	1.555	0.49213	D	0.999768	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.999;0.999;0.997	T	0.52719	-0.8538	10	0.37606	T	0.19	.	15.3771	0.74615	1.0:0.0:0.0:0.0	.	105;94;105;94	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	I	162;94;94;105;105;49;105	ENSP00000356556:N162I;ENSP00000391763:N94I;ENSP00000305530:N94I;ENSP00000417038:N105I;ENSP00000356554:N105I;ENSP00000442153:N49I	ENSP00000305530:N94I	N	+	2	0	PHACTR2	144116602	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.956000	0.70315	2.367000	0.80283	0.528000	0.53228	AAC		PASS	0.373	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		3	18	3	18	---	---	---	---
SLC22A2	6582	broad.mit.edu	37	6	160668227	160668227	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr6:160668227C>A	ENST00000366953.3	-	5	1204	c.946G>T	c.(946-948)Gcc>Tcc	p.A316S	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Missense_Mutation_p.A295S	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	316					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)	p.A316S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	TGAAGGGAGGCGGGTAGAGAT	0.483																																						uc003qtf.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(946-948)GCC>TCC		solute carrier family 22 member 2							110.0	101.0	104.0					6																	160668227		2203	4300	6503	SO:0001583	missense	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160668227C>A	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.946G>T	6.37:g.160668227C>A	ENSP00000355920:p.Ala316Ser					SLC22A2_uc003qte.1_Missense_Mutation_p.A316S	p.A316S	NM_003058	NP_003049	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	5	1116	-		Breast(66;0.000776)|Ovarian(120;0.0303)	316			Cytoplasmic (Potential).		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	c.946G>T	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	C	3.525	-0.097030	0.07010	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.75260	-0.92;-0.92	5.35	-0.733	0.11144	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.740146	0.13296	N	0.398611	T	0.25419	0.0618	N	0.21194	0.64	0.09310	N	1	B;B	0.24675	0.029;0.109	B;B	0.26094	0.039;0.066	T	0.22730	-1.0208	10	0.07813	T	0.8	.	1.7093	0.02888	0.2342:0.3711:0.0873:0.3074	.	316;316	O15244;O15244-2	S22A2_HUMAN;.	S	316;295	ENSP00000355920:A316S;ENSP00000355919:A295S	ENSP00000355919:A295S	A	-	1	0	SLC22A2	160588217	0.000000	0.05858	0.001000	0.08648	0.843000	0.47879	-0.886000	0.04157	-0.135000	0.11495	-0.137000	0.14449	GCC		PASS	0.483	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		6	58	6	58	---	---	---	---
PLG	5340	broad.mit.edu	37	6	161139408	161139408	+	Silent	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr6:161139408C>T	ENST00000308192.9	+	8	933	c.870C>T	c.(868-870)acC>acT	p.T290T		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	290	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.T290T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGGCTGTTACCGTGTCCGGGC	0.532																																						uc003qtm.3																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(868-870)ACC>ACT		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						144.0	136.0	139.0					6																	161139408		2203	4300	6503	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161139408C>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.870C>T	6.37:g.161139408C>T							p.T290T	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	8	933	+			290			Kringle 3.		Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.870C>T	CCDS5279.1																																																																																				PASS	0.532	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		6	51	6	51	---	---	---	---
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						uc003qxt.2																			4	Substitution - coding silent(4)		lung(3)|prostate(1)	ovary(1)	1						c.(226-228)CAG>CAA		TATA box binding protein							14.0	19.0	17.0					6																	170871052		1952	3842	5794	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871052G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A						TBP_uc003qxu.2_Silent_p.Q76Q|TBP_uc011ehf.1_Silent_p.Q56Q|TBP_uc011ehg.1_Silent_p.Q76Q	p.Q76Q	NM_003194	NP_003185	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	460	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	76			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.228G>A	CCDS5315.1																																																																																				PASS	0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		3	2	3	2	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21584692	21584692	+	Silent	SNP	T	T	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr7:21584692T>C	ENST00000409508.3	+	2	451	c.420T>C	c.(418-420)aaT>aaC	p.N140N	DNAH11_ENST00000328843.6_Silent_p.N140N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	140	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N140N(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTGGAGTAAATGACTTTTCTC	0.338									Kartagener syndrome																													uc003svc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(418-420)AAT>AAC		dynein, axonemal, heavy chain 11							97.0	93.0	94.0					7																	21584692		1828	4087	5915	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21584692T>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.420T>C	7.37:g.21584692T>C							p.N140N	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			2	451	+			140			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.420T>C																																																																																					PASS	0.338	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		6	4	6	4	---	---	---	---
NME8	51314	broad.mit.edu	37	7	37927962	37927962	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr7:37927962T>A	ENST00000199447.4	+	15	1703	c.1331T>A	c.(1330-1332)aTa>aAa	p.I444K	NME8_ENST00000440017.1_Missense_Mutation_p.I444K|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	444	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.I444K(1)									GAAAGGGAAATACAGCATTTC	0.373																																						uc003tfn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1330-1332)ATA>AAA		thioredoxin domain containing 3							81.0	79.0	79.0					7																	37927962		2203	4300	6503	SO:0001583	missense	51314	Kartagener_syndrome			cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37927962T>A	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1331T>A	7.37:g.37927962T>A	ENSP00000199447:p.Ile444Lys						p.I444K	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			15	1703	+			444			NDK 2.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.1331T>A	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.893271	0.52121	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.61392	0.11;0.11	4.42	4.42	0.53409	.	0.000000	0.53938	D	0.000042	T	0.80879	0.4708	M	0.93978	3.48	0.49389	D	0.999789	D	0.76494	0.999	D	0.79108	0.992	D	0.85967	0.1474	10	0.87932	D	0	-34.692	13.6088	0.62063	0.0:0.0:0.0:1.0	.	444	Q8N427	TXND3_HUMAN	K	444	ENSP00000199447:I444K;ENSP00000397063:I444K	ENSP00000199447:I444K	I	+	2	0	TXNDC3	37894487	0.997000	0.39634	0.450000	0.26969	0.178000	0.23041	4.328000	0.59253	2.227000	0.72691	0.460000	0.39030	ATA		PASS	0.373	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		14	29	14	29	---	---	---	---
COBL	23242	broad.mit.edu	37	7	51097005	51097005	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr7:51097005T>A	ENST00000265136.7	-	10	1953	c.1788A>T	c.(1786-1788)gaA>gaT	p.E596D	COBL_ENST00000395542.2_Missense_Mutation_p.E678D	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	596					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.E596D(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGGCAGGTACTTCCTCCCTTG	0.562																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(1786-1788)GAA>GAT		cordon-bleu homolog							76.0	66.0	69.0					7																	51097005		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51097005T>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1788A>T	7.37:g.51097005T>A	ENSP00000265136:p.Glu596Asp					COBL_uc003tps.2_Missense_Mutation_p.E653D|COBL_uc011kcl.1_Missense_Mutation_p.E596D|COBL_uc003tpp.3_Missense_Mutation_p.E382D|COBL_uc003tpq.3_Missense_Mutation_p.E537D|COBL_uc003tpo.3_Missense_Mutation_p.E138D	p.E596D	NM_015198	NP_056013	O75128	COBL_HUMAN			10	1973	-	Glioma(55;0.08)		596					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.1788A>T	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.673|4.673	0.125181|0.125181	0.08931|0.08931	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542;ENST00000457306|ENST00000452534	T;T;T;T|.	0.22945|.	1.93;1.93;1.93;1.93|.	5.59|5.59	-11.2|-11.2	0.00127|0.00127	.|.	0.941066|.	0.08826|.	N|.	0.888140|.	T|T	0.13457|0.13457	0.0326|0.0326	N|N	0.11427|0.11427	0.14|0.14	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.18461|.	0.004;0.001;0.01;0.001;0.028|.	B;B;B;B;B|.	0.16722|.	0.009;0.003;0.007;0.003;0.016|.	T|T	0.13176|0.13176	-1.0519|-1.0519	10|5	0.13470|.	T|.	0.59|.	.|.	8.0516|8.0516	0.30581|0.30581	0.1195:0.4208:0.3709:0.0888|0.1195:0.4208:0.3709:0.0888	.|.	596;653;596;678;138|.	O75128-3;O75128-7;O75128;O75128-2;O75128-6|.	.;.;COBL_HUMAN;.;.|.	D|C	596;488;481;678;94|572	ENSP00000265136:E596D;ENSP00000401204:E488D;ENSP00000413498:E481D;ENSP00000378912:E678D|.	ENSP00000265136:E596D|.	E|S	-|-	3|1	2|0	COBL|COBL	51064499|51064499	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-3.093000|-3.093000	0.00608|0.00608	-4.049000|-4.049000	0.00078|0.00078	-1.234000|-1.234000	0.01563|0.01563	GAA|AGT		PASS	0.562	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		23	86	23	86	---	---	---	---
CCDC132	55610	broad.mit.edu	37	7	92940500	92940500	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr7:92940500A>G	ENST00000305866.5	+	20	1899	c.1771A>G	c.(1771-1773)Agc>Ggc	p.S591G	CCDC132_ENST00000535481.1_Missense_Mutation_p.S311G|CCDC132_ENST00000544910.1_Missense_Mutation_p.S561G|CCDC132_ENST00000541136.1_Missense_Mutation_p.S402G|CCDC132_ENST00000317751.6_Missense_Mutation_p.S322G	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	591						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.S591G(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AACTCTAAAAAGCAGGAAGAA	0.353																																						uc003umo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1771-1773)AGC>GGC		coiled-coil domain containing 132 isoform a							129.0	129.0	129.0					7																	92940500		1818	4067	5885	SO:0001583	missense	55610							g.chr7:92940500A>G	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1771A>G	7.37:g.92940500A>G	ENSP00000307666:p.Ser591Gly					CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.S561G|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.S311G	p.S591G	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		20	1899	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		591					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.1771A>G	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.002437	0.93227	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751	T	0.50277	0.75	5.5	5.5	0.81552	.	0.044424	0.85682	D	0.000000	T	0.44932	0.1317	L	0.53249	1.67	0.80722	D	1	B;P;B	0.35612	0.378;0.512;0.378	B;B;B	0.32342	0.098;0.144;0.069	T	0.49303	-0.8954	10	0.62326	D	0.03	-9.3579	15.9224	0.79586	1.0:0.0:0.0:0.0	.	311;561;591	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	G	591;561;402;311;322	ENSP00000325582:S322G	ENSP00000307666:S591G	S	+	1	0	CCDC132	92778436	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.014000	0.93635	2.225000	0.72522	0.533000	0.62120	AGC		PASS	0.353	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		19	36	19	36	---	---	---	---
DYNC1I1	1780	broad.mit.edu	37	7	95665060	95665060	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr7:95665060G>A	ENST00000324972.6	+	13	1604	c.1411G>A	c.(1411-1413)Gga>Aga	p.G471R	DYNC1I1_ENST00000437599.1_Missense_Mutation_p.G451R|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.G454R|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.G434R|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.G434R|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.G454R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	471					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.G471R(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TTGTCGTCATGGAAGGTGATT	0.443																																						uc003uoc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)	4						c.(1411-1413)GGA>AGA		dynein, cytoplasmic 1, intermediate chain 1							305.0	254.0	271.0					7																	95665060		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95665060G>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1411G>A	7.37:g.95665060G>A	ENSP00000320130:p.Gly471Arg					DYNC1I1_uc003uod.3_Missense_Mutation_p.G454R|DYNC1I1_uc003uob.2_Missense_Mutation_p.G434R|DYNC1I1_uc003uoe.3_Missense_Mutation_p.G451R|DYNC1I1_uc010lfl.2_Missense_Mutation_p.G460R	p.G471R	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		13	1688	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		471			WD 4.		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.1411G>A	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461192	0.84317	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.77229	-0.91;-0.87;-1.08;-0.87;-0.86;-0.91	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90858	0.7128	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997	D;D;D;D;D	0.85130	0.994;0.997;0.997;0.994;0.96	D	0.92357	0.5894	10	0.87932	D	0	-29.6152	19.0933	0.93238	0.0:0.0:1.0:0.0	.	454;451;454;471;434	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	R	454;471;434;451;434;454	ENSP00000392337:G454R;ENSP00000320130:G471R;ENSP00000438377:G434R;ENSP00000398118:G451R;ENSP00000352348:G434R;ENSP00000412444:G454R	ENSP00000320130:G471R	G	+	1	0	DYNC1I1	95502996	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	9.657000	0.98554	2.830000	0.97506	0.585000	0.79938	GGA		PASS	0.443	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		78	136	78	136	---	---	---	---
PSMC2	5701	broad.mit.edu	37	7	103004738	103004738	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr7:103004738A>C	ENST00000435765.1	+	9	1151	c.740A>C	c.(739-741)cAg>cCg	p.Q247P	SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.Q110P|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.Q247P	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	247					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)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Q247P(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						GAGCTTGTACAGAAATACGTC	0.413																																						uc003vbs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(739-741)CAG>CCG		proteasome 26S ATPase subunit 2							101.0	99.0	100.0					7																	103004738		2203	4300	6503	SO:0001583	missense	5701				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|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:103004738A>C	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.740A>C	7.37:g.103004738A>C	ENSP00000391211:p.Gln247Pro					SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.Q110P	p.Q247P	NM_002803	NP_002794	P35998	PRS7_HUMAN			8	810	+			247					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	c.740A>C	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.455352	0.84209	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	D;D;D	0.94931	-3.56;-3.56;-3.56	5.59	5.59	0.84812	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.97048	0.9762	10	0.87932	D	0	-16.8322	15.8206	0.78638	1.0:0.0:0.0:0.0	.	247	P35998	PRS7_HUMAN	P	247;247;110	ENSP00000391211:Q247P;ENSP00000292644:Q247P;ENSP00000445546:Q110P	ENSP00000292644:Q247P	Q	+	2	0	PSMC2	102791974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.307000	0.96226	2.133000	0.65898	0.529000	0.55759	CAG		PASS	0.413	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		52	87	52	87	---	---	---	---
IQUB	154865	broad.mit.edu	37	7	123150084	123150084	+	Missense_Mutation	SNP	C	C	A	rs368660926		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr7:123150084C>A	ENST00000466202.1	-	3	979	c.403G>T	c.(403-405)Gtt>Ttt	p.V135F	IQUB_ENST00000324698.6_Missense_Mutation_p.V135F|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Missense_Mutation_p.V135F	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	135	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.V135F(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATAAGTACAACTTTTACTGTA	0.303																																						uc003vkn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(403-405)GTT>TTT		IQ motif and ubiquitin domain containing							73.0	85.0	81.0					7																	123150084		2202	4291	6493	SO:0001583	missense	154865							g.chr7:123150084C>A	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.403G>T	7.37:g.123150084C>A	ENSP00000417769:p.Val135Phe					IQUB_uc003vko.2_Missense_Mutation_p.V135F|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Missense_Mutation_p.V135F|IQUB_uc003vkq.2_Missense_Mutation_p.V135F	p.V135F	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			3	980	-			135			Ubiquitin-like.		A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.403G>T	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930140	0.34096	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.62232	0.04;0.04;0.04	4.88	-0.189	0.13260	Ubiquitin supergroup (1);	0.646278	0.13809	N	0.361256	T	0.49304	0.1549	L	0.60455	1.87	0.28067	N	0.932757	P;B;B	0.40970	0.734;0.057;0.034	B;B;B	0.38954	0.286;0.044;0.02	T	0.39663	-0.9603	10	0.21014	T	0.42	.	4.0039	0.09592	0.1596:0.5024:0.0:0.3379	.	135;135;135	A1A4Z1;Q8NA54-2;Q8NA54	.;.;IQUB_HUMAN	F	135	ENSP00000417769:V135F;ENSP00000324882:V135F;ENSP00000388498:V135F	ENSP00000324882:V135F	V	-	1	0	IQUB	122937320	0.620000	0.27068	0.984000	0.44739	0.979000	0.70002	-0.860000	0.04272	-0.234000	0.09782	0.561000	0.74099	GTT		PASS	0.303	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		10	45	10	45	---	---	---	---
POT1	25913	broad.mit.edu	37	7	124493159	124493159	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr7:124493159T>A	ENST00000357628.3	-	10	1334	c.736A>T	c.(736-738)Acc>Tcc	p.T246S	POT1_ENST00000393329.1_Missense_Mutation_p.T115S	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	246					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.T246S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TGAAGTTTGGTATGAAGGCTA	0.338																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	uc003vlm.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(736-738)ACC>TCC		protection of telomeres 1 isoform 1							72.0	68.0	70.0					7																	124493159		2203	4300	6503	SO:0001583	missense	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124493159T>A	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.736A>T	7.37:g.124493159T>A	ENSP00000350249:p.Thr246Ser					POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.T115S|POT1_uc003vln.2_RNA	p.T246S	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN			10	1337	-			246					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	c.736A>T	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177697	0.57692	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.46451	0.9;0.87	6.07	2.49	0.30216	Nucleic acid-binding, OB-fold-like (1);	0.346123	0.34386	N	0.004017	T	0.32466	0.0830	M	0.72118	2.19	0.31456	N	0.670101	B	0.34103	0.437	B	0.25759	0.063	T	0.40739	-0.9547	10	0.46703	T	0.11	-8.8972	3.5199	0.07739	0.1684:0.1915:0.0:0.6402	.	246	Q9NUX5	POTE1_HUMAN	S	246;115;246;246;246;245	ENSP00000350249:T246S;ENSP00000377002:T115S	ENSP00000265391:T245S	T	-	1	0	POT1	124280395	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.351000	0.20096	1.089000	0.41292	0.533000	0.62120	ACC		PASS	0.338	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			4	10	4	10	---	---	---	---
FAM115A	9747	broad.mit.edu	37	7	143556250	143556250	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr7:143556250C>T	ENST00000479870.1	-	7	2380	c.2172G>A	c.(2170-2172)tgG>tgA	p.W724*	FAM115A_ENST00000355951.2_Nonsense_Mutation_p.W724*|FAM115A_ENST00000392900.3_5'UTR	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	724	Peptidase M60.							p.W724*(1)		NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					CTGCATGCATCCAGCCTGGAA	0.507																																						uc003wdo.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(2170-2172)TGG>TGA		hypothetical protein LOC9747							45.0	44.0	44.0					7																	143556250		2199	4297	6496	SO:0001587	stop_gained	9747							g.chr7:143556250C>T	AB018281	CCDS5886.1, CCDS56514.1	7q35	2011-05-03	2006-03-23	2006-03-23	ENSG00000198420	ENSG00000198420			22201	protein-coding gene	gene with protein product						9872452	Standard	NM_014719		Approved	KIAA0738	uc003wdo.2	Q9Y4C2	OTTHUMG00000157773	ENST00000479870.1:c.2172G>A	7.37:g.143556250C>T	ENSP00000419235:p.Trp724*					FAM115A_uc011ktu.1_Nonsense_Mutation_p.W300*|FAM115A_uc003wdp.1_Nonsense_Mutation_p.W724*	p.W724*	NM_014719	NP_055534	Q9Y4C2	F115A_HUMAN			7	2305	-	Melanoma(164;0.0903)		724					A8K6E0|Q75KM8|Q75KM9|Q7L665|Q9BW63	Nonsense_Mutation	SNP	ENST00000479870.1	37	c.2172G>A	CCDS5886.1	.	.	.	.	.	.	.	.	.	.	C	38	6.916566	0.97932	.	.	ENSG00000198420	ENST00000479870;ENST00000355951	.	.	.	3.03	3.03	0.35002	.	0.130576	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5267	12.2964	0.54849	0.0:1.0:0.0:0.0	.	.	.	.	X	724	.	ENSP00000348220:W724X	W	-	3	0	FAM115A	143187183	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.244000	0.51399	1.997000	0.58415	0.655000	0.94253	TGG		PASS	0.507	FAM115A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349583.1	NM_014719		18	118	18	118	---	---	---	---
ARHGEF5	7984	broad.mit.edu	37	7	144060770	144060770	+	Silent	SNP	T	T	C	rs141931104		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr7:144060770T>C	ENST00000056217.5	+	2	1182	c.1008T>C	c.(1006-1008)aaT>aaC	p.N336N	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	336					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N336N(5)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGAAGAGAATAGGGCGGACT	0.512																																						uc003wel.2																			5	Substitution - coding silent(5)		endometrium(2)|lung(1)|prostate(1)|kidney(1)	skin(2)	2						c.(1006-1008)AAT>AAC		rho guanine nucleotide exchange factor 5		T		4,4184		0,4,2090	143.0	127.0	132.0		1008	-7.7	0.0	7	dbSNP_134	132	12,8044		0,12,4016	no	coding-synonymous	ARHGEF5	NM_005435.3		0,16,6106	CC,CT,TT		0.149,0.0955,0.1307		336/1598	144060770	16,12228	2094	4028	6122	SO:0001819	synonymous_variant	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144060770T>C	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.1008T>C	7.37:g.144060770T>C						ARHGEF5_uc003wek.2_Silent_p.N336N	p.N336N	NM_005435	NP_005426	Q12774	ARHG5_HUMAN			2	1126	+	Melanoma(164;0.14)		336					A6NNJ2|Q6ZML7	Silent	SNP	ENST00000056217.5	37	c.1008T>C	CCDS34771.1																																																																																				PASS	0.512	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		4	337	4	337	---	---	---	---
WDR60	55112	broad.mit.edu	37	7	158723180	158723180	+	Silent	SNP	T	T	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr7:158723180T>C	ENST00000407559.3	+	21	2678	c.2520T>C	c.(2518-2520)caT>caC	p.H840H		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	840					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.H840H(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AGCTGGTACATAGTGCTCTGA	0.398																																						uc003woe.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(2518-2520)CAT>CAC		WD repeat domain 60							170.0	162.0	165.0					7																	158723180		1974	4159	6133	SO:0001819	synonymous_variant	55112							g.chr7:158723180T>C		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2520T>C	7.37:g.158723180T>C						WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Silent_p.H472H	p.H840H	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	21	2678	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	840					Q9NW58	Silent	SNP	ENST00000407559.3	37	c.2520T>C	CCDS47757.1																																																																																				PASS	0.398	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		9	16	9	16	---	---	---	---
SH2D4A	63898	broad.mit.edu	37	8	19192231	19192231	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr8:19192231A>C	ENST00000265807.3	+	4	787	c.376A>C	c.(376-378)Aaa>Caa	p.K126Q	SH2D4A_ENST00000518040.1_Missense_Mutation_p.K81Q|SH2D4A_ENST00000519207.1_Missense_Mutation_p.K126Q	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	126					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)	p.K126Q(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		CAATAGCTTGAAAACAAAATC	0.413																																						uc003wzb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(376-378)AAA>CAA		SH2 domain containing 4A							77.0	75.0	76.0					8																	19192231		2203	4300	6503	SO:0001583	missense	63898					cytoplasm|nucleus	protein binding	g.chr8:19192231A>C	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.376A>C	8.37:g.19192231A>C	ENSP00000265807:p.Lys126Gln					SH2D4A_uc011kym.1_Missense_Mutation_p.K81Q|SH2D4A_uc003wzc.2_Missense_Mutation_p.K126Q	p.K126Q	NM_022071	NP_071354	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	4	712	+			126					B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	c.376A>C	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	A	12.52	1.962450	0.34659	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207;ENST00000523736	T;T;T;T	0.13196	2.8;2.61;2.8;2.8	5.54	0.439	0.16567	.	0.680879	0.14855	N	0.294457	T	0.09774	0.0240	L	0.60455	1.87	0.09310	N	1	P;B	0.35077	0.483;0.112	B;B	0.27500	0.08;0.08	T	0.25813	-1.0121	10	0.23891	T	0.37	.	4.0098	0.09618	0.5213:0.1816:0.2971:0.0	.	81;126	B4DDR1;Q9H788	.;SH24A_HUMAN	Q	126;81;126;112	ENSP00000265807:K126Q;ENSP00000429482:K81Q;ENSP00000428684:K126Q;ENSP00000428048:K112Q	ENSP00000265807:K126Q	K	+	1	0	SH2D4A	19236511	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.561000	0.23515	0.058000	0.16222	0.533000	0.62120	AAA		PASS	0.413	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		30	39	30	39	---	---	---	---
EGR3	1960	broad.mit.edu	37	8	22548882	22548882	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr8:22548882C>A	ENST00000317216.2	-	2	625	c.268G>T	c.(268-270)Gcc>Tcc	p.A90S	EGR3_ENST00000522910.1_Missense_Mutation_p.A52S|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000519492.1_3'UTR|RP11-459E5.1_ENST00000523627.1_RNA	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	90					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A90S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GAGTCGAAGGCGAACTTTCCC	0.617																																						uc003xcm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(268-270)GCC>TCC		early growth response 3							68.0	72.0	70.0					8																	22548882		2203	4300	6503	SO:0001583	missense	1960				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:22548882C>A	X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.268G>T	8.37:g.22548882C>A	ENSP00000318057:p.Ala90Ser					EGR3_uc011kzn.1_Missense_Mutation_p.A52S|EGR3_uc011kzo.1_Missense_Mutation_p.A36S	p.A90S	NM_004430	NP_004421	Q06889	EGR3_HUMAN		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)	2	626	-		Prostate(55;0.0421)|Breast(100;0.102)	90					A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Missense_Mutation	SNP	ENST00000317216.2	37	c.268G>T	CCDS6033.1	.	.	.	.	.	.	.	.	.	.	C	5.895	0.349238	0.11182	.	.	ENSG00000179388	ENST00000317216;ENST00000522910	T;T	0.19938	2.11;2.11	5.39	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.08582	0.0213	N	0.05078	-0.115	0.80722	D	1	B;P	0.46020	0.355;0.871	B;P	0.45610	0.388;0.487	T	0.36138	-0.9760	10	0.02654	T	1	-14.5813	4.2168	0.10539	0.1847:0.6301:0.0:0.1852	.	52;90	E7EW38;Q06889	.;EGR3_HUMAN	S	90;52	ENSP00000318057:A90S;ENSP00000430310:A52S	ENSP00000318057:A90S	A	-	1	0	EGR3	22604827	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.487000	0.45268	1.269000	0.44280	0.462000	0.41574	GCC		PASS	0.617	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	NM_004430		52	166	52	166	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38186925	38186925	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr8:38186925A>G	ENST00000317025.8	-	6	2069	c.1552T>C	c.(1552-1554)Ttt>Ctt	p.F518L	WHSC1L1_ENST00000316985.3_Missense_Mutation_p.F518L|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.F518L|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.F518L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	518					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.F518L(2)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGATCGATAAATTTCCCATCC	0.388			T	NUP98	AML																																	uc003xli.2				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1552-1554)TTT>CTT		WHSC1L1 protein isoform long							76.0	75.0	76.0					8																	38186925		2203	4300	6503	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38186925A>G	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1552T>C	8.37:g.38186925A>G	ENSP00000313983:p.Phe518Leu					WHSC1L1_uc011lbm.1_Missense_Mutation_p.F518L|WHSC1L1_uc010lwe.2_Missense_Mutation_p.F518L|WHSC1L1_uc003xlj.2_Missense_Mutation_p.F518L	p.F518L	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		6	2070	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	518					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.1552T>C	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.333616	0.41297	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985	D;D;D;T	0.94613	-3.44;-3.47;-3.47;0.06	5.76	5.76	0.90799	.	0.132994	0.33980	U	0.004378	D	0.84853	0.5564	N	0.08118	0	0.32555	N	0.531847	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.79874	-0.1619	10	0.10111	T	0.7	.	9.3516	0.38142	0.9139:0.0:0.0861:0.0	.	518;518;518;518	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	L	518;518;455;518;518	ENSP00000393284:F518L;ENSP00000313983:F518L;ENSP00000434730:F518L;ENSP00000313410:F518L	ENSP00000313410:F518L	F	-	1	0	WHSC1L1	38306082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.124000	0.50461	2.195000	0.70347	0.528000	0.53228	TTT		PASS	0.388	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		15	39	15	39	---	---	---	---
ANK1	286	broad.mit.edu	37	8	41574571	41574571	+	Splice_Site	SNP	T	T	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr8:41574571T>C	ENST00000347528.4	-	13	1389		c.e13-2		ANK1_ENST00000379758.2_Splice_Site|ANK1_ENST00000396945.1_Splice_Site|ANK1_ENST00000396942.1_Splice_Site|ANK1_ENST00000289734.7_Splice_Site|ANK1_ENST00000352337.4_Splice_Site|ANK1_ENST00000265709.8_Splice_Site	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic						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.?(2)		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)			CTCCACTTTCTATAAAATAAC	0.478																																						uc003xok.2																			2	Unknown(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.e13-1		ankyrin 1 isoform 1							82.0	83.0	82.0					8																	41574571		2203	4300	6503	SO:0001630	splice_region_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.chr8:41574571T>C	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.1306-2A>G	8.37:g.41574571T>C						NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Splice_Site_p.K436_splice|ANK1_uc003xoj.2_Splice_Site_p.K436_splice|ANK1_uc003xol.2_Splice_Site_p.K436_splice|ANK1_uc003xom.2_Splice_Site_p.K469_splice	p.K436_splice	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)		13	1390	-	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)						A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Splice_Site	SNP	ENST00000347528.4	37	c.1306_splice	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175013	0.78564	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2124	0.73235	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANK1	41693728	1.000000	0.71417	0.934000	0.37439	0.840000	0.47671	7.975000	0.88055	2.132000	0.65825	0.397000	0.26171	.		PASS	0.478	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	Intron	46	144	46	144	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61655366	61655366	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr8:61655366C>A	ENST00000423902.2	+	2	1854	c.1375C>A	c.(1375-1377)Cgt>Agt	p.R459S	CHD7_ENST00000524602.1_Missense_Mutation_p.R459S|CHD7_ENST00000525508.1_Missense_Mutation_p.R459S	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	459	Pro-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R459S(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCAGCAGTCTCGTCCATTTAT	0.542																																						uc003xue.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(1375-1377)CGT>AGT		chromodomain helicase DNA binding protein 7							59.0	64.0	62.0					8																	61655366		2008	4190	6198	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61655366C>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.1375C>A	8.37:g.61655366C>A	ENSP00000392028:p.Arg459Ser						p.R459S	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	1852	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	459			Pro-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.1375C>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875405	0.33162	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	D;T;T	0.82619	-1.63;1.9;-1.26	5.39	4.48	0.54585	.	0.000000	0.35207	N	0.003370	T	0.72859	0.3513	N	0.19112	0.55	0.33801	D	0.626713	B	0.23377	0.084	B	0.21151	0.033	T	0.74774	-0.3551	10	0.41790	T	0.15	-7.3765	15.1876	0.73016	0.142:0.858:0.0:0.0	.	459	Q9P2D1	CHD7_HUMAN	S	459	ENSP00000392028:R459S;ENSP00000437061:R459S;ENSP00000436027:R459S	ENSP00000307304:R459S	R	+	1	0	CHD7	61817920	1.000000	0.71417	0.920000	0.36463	0.993000	0.82548	4.639000	0.61361	1.229000	0.43630	0.563000	0.77884	CGT		PASS	0.542	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		3	45	3	45	---	---	---	---
YTHDF3	253943	broad.mit.edu	37	8	64099962	64099962	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr8:64099962T>C	ENST00000539294.1	+	4	1706	c.1390T>C	c.(1390-1392)Ttc>Ctc	p.F464L	YTHDF3_ENST00000542911.2_Missense_Mutation_p.F275L|YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000521674.1_3'UTR	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	465	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			CTATTTACTCTTCAGTGTGAA	0.438																																						uc003xuy.2																			0					0						c.(1393-1395)TTC>CTC		YTH domain family, member 3							138.0	134.0	135.0					8																	64099962		1980	4159	6139	SO:0001583	missense	253943							g.chr8:64099962T>C	BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.1390T>C	8.37:g.64099962T>C	ENSP00000473496:p.Phe464Leu					YTHDF3_uc010lys.2_Missense_Mutation_p.F409L|YTHDF3_uc003xuz.2_Missense_Mutation_p.F409L|YTHDF3_uc003xva.2_Missense_Mutation_p.F409L|YTHDF3_uc011len.1_Missense_Mutation_p.F409L	p.F465L	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		5	1709	+	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	465			YTH.		B3KXL4|Q63Z37|Q659A3	Missense_Mutation	SNP	ENST00000539294.1	37	c.1393T>C																																																																																					PASS	0.438	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152758		11	30	11	30	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77690550	77690550	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr8:77690550G>T	ENST00000521891.2	+	4	3648	c.3200G>T	c.(3199-3201)cGt>cTt	p.R1067L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1041L|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1041L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1041L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1041					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.R1067L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAACATGTCCGTTCGGTGAAG	0.517										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(3121-3123)CGT>CTT		zinc finger homeodomain 4							156.0	162.0	160.0					8																	77690550		2044	4199	6243	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77690550G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3200G>T	8.37:g.77690550G>T	ENSP00000430497:p.Arg1067Leu	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.R1067L|ZFHX4_uc003yaw.1_Missense_Mutation_p.R1041L	p.R1041L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		4	3509	+			1041			C2H2-type 7.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.3122G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073495	0.55646	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);	0.000000	0.44097	U	0.000498	T	0.75525	0.3861	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.998	T	0.78008	-0.2372	10	0.87932	D	0	.	19.3361	0.94319	0.0:0.0:1.0:0.0	.	1041;1041;1067	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	L	1067;1067;1041;1041;1041	ENSP00000430497:R1067L;ENSP00000399605:R1041L;ENSP00000050961:R1041L;ENSP00000430848:R1041L	ENSP00000050961:R1041L	R	+	2	0	ZFHX4	77853105	1.000000	0.71417	0.927000	0.36925	0.998000	0.95712	9.601000	0.98297	2.878000	0.98634	0.650000	0.86243	CGT		PASS	0.517	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		34	82	34	82	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77763734	77763735	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr8:77763734_77763735GG>AT	ENST00000521891.2	+	10	5025_5026	c.4577_4578GG>AT	c.(4576-4578)gGG>gAT	p.G1526D	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G1500D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G1481D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G1481D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G1526E(1)|p.G1526D(1)|p.G1526G(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTAGAAAAGGGCCCAATTTTA	0.431										HNSCC(33;0.089)																												uc003yav.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4441-4443)GGG>GAG|c.(4441-4443)GGG>GGT		zinc finger homeodomain 4																																				SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763734G>A|g.chr8:77763735G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	Exception_encountered	8.37:g.77763734_77763735delinsAT	ENSP00000430497:p.Gly1526Asp	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.G1526E|ZFHX4_uc003yaw.1_Missense_Mutation_p.G1481E|ZFHX4_uc003yau.1_Silent_p.G1526G|ZFHX4_uc003yaw.1_Silent_p.G1481G	p.G1481E|p.G1481G	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4829|4830	+			1481					G3V138|Q18PS0|Q6ZN20	Missense_Mutation|Silent	SNP	ENST00000521891.2	37	c.4442G>A|c.4443G>T	CCDS47878.2																																																																																				PASS	0.431	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		7|6	10	6	10	---	---	---	---
KCNV1	27012	broad.mit.edu	37	8	110980540	110980540	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr8:110980540A>G	ENST00000524391.1	-	4	2312	c.1280T>C	c.(1279-1281)aTt>aCt	p.I427T	KCNV1_ENST00000297404.1_Missense_Mutation_p.I427T			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	427					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.I427T(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)			GCGATCGTTAATAATAGCAAT	0.448																																						uc003ynr.3																			1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(1279-1281)ATT>ACT		potassium channel, subfamily V, member 1							106.0	108.0	108.0					8																	110980540		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110980540A>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.1280T>C	8.37:g.110980540A>G	ENSP00000435954:p.Ile427Thr					KCNV1_uc010mcw.2_Missense_Mutation_p.I427T	p.I427T	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		3	1622	-	all_neural(195;0.219)		427			Helical; Name=Segment S6; (Potential).		Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.1280T>C	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.501458	0.85176	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.99214	-5.57;-5.57	5.61	5.61	0.85477	Ion transport (1);	0.106863	0.64402	D	0.000010	D	0.99432	0.9799	M	0.92459	3.31	0.80722	D	1	D	0.59767	0.986	P	0.59012	0.85	D	0.98459	1.0595	10	0.87932	D	0	.	14.9947	0.71421	1.0:0.0:0.0:0.0	.	427	Q6PIU1	KCNV1_HUMAN	T	427;427;303	ENSP00000435954:I427T;ENSP00000297404:I427T	ENSP00000297404:I427T	I	-	2	0	KCNV1	111049716	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.335000	0.96500	2.118000	0.64928	0.533000	0.62120	ATT		PASS	0.448	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		3	70	3	70	---	---	---	---
EFR3A	23167	broad.mit.edu	37	8	132996486	132996486	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr8:132996486C>G	ENST00000254624.5	+	15	1901	c.1676C>G	c.(1675-1677)aCt>aGt	p.T559S	EFR3A_ENST00000334503.4_Missense_Mutation_p.T559S|EFR3A_ENST00000519656.1_Missense_Mutation_p.T523S	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	559						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.T559S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCTCTTATAACTATTGAACTG	0.363																																						uc003yte.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)	5						c.(1675-1677)ACT>AGT		EFR3 homolog A							126.0	124.0	125.0					8																	132996486		2203	4300	6503	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:132996486C>G	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1676C>G	8.37:g.132996486C>G	ENSP00000254624:p.Thr559Ser						p.T559S	NM_015137	NP_055952	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		15	1877	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		559					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.1676C>G	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296154	0.40594	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.30448	1.53;1.53;1.53	6.02	5.12	0.69794	Armadillo-type fold (1);	0.042977	0.85682	N	0.000000	T	0.22666	0.0547	L	0.28014	0.82	0.58432	D	0.999998	B	0.19445	0.036	B	0.22880	0.042	T	0.04565	-1.0942	10	0.11794	T	0.64	-29.4727	16.5163	0.84301	0.0:0.87:0.13:0.0	.	559	Q14156	EFR3A_HUMAN	S	559;559;559;523	ENSP00000254624:T559S;ENSP00000334769:T559S;ENSP00000428086:T523S	ENSP00000254624:T559S	T	+	2	0	EFR3A	133065668	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.593000	0.61034	2.850000	0.98022	0.650000	0.86243	ACT		PASS	0.363	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		16	22	16	22	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139629158	139629158	+	Splice_Site	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr8:139629158C>T	ENST00000303045.6	-	54	4315	c.3869G>A	c.(3868-3870)cGg>cAg	p.R1290Q	COL22A1_ENST00000435777.1_Splice_Site_p.R1270Q|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1290	Collagen-like 12.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R1290Q(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCACTTACCCGGGGACCGGG	0.572										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(3868-3870)CGG>CAG		collagen, type XXII, alpha 1							62.0	64.0	63.0					8																	139629158		2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139629158C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3870+1G>A	8.37:g.139629158C>T		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.R570Q	p.R1290Q	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		54	4316	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1290			Pro-rich.|Gly-rich.|Collagen-like 12.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3869G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738293	0.30774	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93547	-3.24;-3.24	4.35	4.35	0.52113	.	0.158446	0.28946	N	0.013633	D	0.92980	0.7766	L	0.31578	0.945	0.34365	D	0.691425	D;D	0.71674	0.998;0.998	D;D	0.79108	0.986;0.992	D	0.91215	0.5002	10	0.17832	T	0.49	.	12.6914	0.56976	0.0:1.0:0.0:0.0	.	1270;1290	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	Q	1290;1270;983	ENSP00000303153:R1290Q;ENSP00000387655:R1270Q	ENSP00000303153:R1290Q	R	-	2	0	COL22A1	139698340	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	3.554000	0.53720	2.709000	0.92574	0.555000	0.69702	CGG		PASS	0.572	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Missense_Mutation	7	56	7	56	---	---	---	---
NAPRT	93100	broad.mit.edu	37	8	144658690	144658690	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr8:144658690A>T	ENST00000449291.2	-	7	1228	c.934T>A	c.(934-936)Tac>Aac	p.Y312N	NAPRT1_ENST00000435154.3_Missense_Mutation_p.Y312N|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000460623.1_5'Flank|NAPRT1_ENST00000276844.7_Missense_Mutation_p.Y312N|NAPRT1_ENST00000426292.3_Missense_Mutation_p.Y312N														p.Y288N(1)|p.Y312N(1)		endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACTGCCCGGTAGCCCAGCTCT	0.617																																						uc003yym.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(934-936)TAC>AAC		nicotinate phosphoribosyltransferase domain							29.0	30.0	30.0					8																	144658690		2199	4299	6498	SO:0001583	missense	93100				nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr8:144658690A>T																												ENST00000449291.2:c.934T>A	8.37:g.144658690A>T	ENSP00000401508:p.Tyr312Asn					NAPRT1_uc003yyn.3_Missense_Mutation_p.Y312N|NAPRT1_uc011lkh.1_Missense_Mutation_p.Y312N|NAPRT1_uc003yyo.3_Missense_Mutation_p.Y312N	p.Y312N	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)		7	959	-	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		312						Missense_Mutation	SNP	ENST00000449291.2	37	c.934T>A	CCDS6403.2	.	.	.	.	.	.	.	.	.	.	A	23.3	4.396343	0.83011	.	.	ENSG00000147813	ENST00000435154;ENST00000449291;ENST00000340490;ENST00000426292;ENST00000276844	T;T;T;T;T	0.47177	0.88;0.88;0.85;0.87;0.87	4.32	4.32	0.51571	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	M	0.80028	2.48	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.97110	0.994;0.986;0.999;1.0	T	0.72653	-0.4228	10	0.87932	D	0	-17.6958	11.3353	0.49500	1.0:0.0:0.0:0.0	.	312;312;312;312	C9J8U2;G5E977;Q6XQN6-3;Q6XQN6	.;.;.;PNCB_HUMAN	N	312	ENSP00000405670:Y312N;ENSP00000401508:Y312N;ENSP00000341136:Y312N;ENSP00000390949:Y312N;ENSP00000276844:Y312N	ENSP00000276844:Y312N	Y	-	1	0	NAPRT1	144729833	0.999000	0.42202	0.997000	0.53966	0.861000	0.49209	4.135000	0.57997	1.788000	0.52465	0.523000	0.50628	TAC		PASS	0.617	NAPRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346708.3			12	40	12	40	---	---	---	---
FRMPD1	22844	broad.mit.edu	37	9	37740403	37740403	+	Silent	SNP	C	C	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr9:37740403C>G	ENST00000539465.1	+	15	2471	c.1878C>G	c.(1876-1878)acC>acG	p.T626T	FRMPD1_ENST00000377765.3_Silent_p.T626T|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Silent_p.T448T|FRMPD1_ENST00000541302.1_Silent_p.T495T			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	626						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.T626T(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GCAGGTCCACCTTCTTCCACT	0.587																																						uc004aag.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(1876-1878)ACC>ACG		FERM and PDZ domain containing 1							38.0	35.0	36.0					9																	37740403		2203	4299	6502	SO:0001819	synonymous_variant	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37740403C>G	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1878C>G	9.37:g.37740403C>G						FRMPD1_uc004aah.1_Silent_p.T626T|FRMPD1_uc011lqm.1_Silent_p.T448T|FRMPD1_uc011lqn.1_Silent_p.T495T	p.T626T	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	15	1922	+			626					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	c.1878C>G	CCDS6612.1																																																																																				PASS	0.587	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		30	21	30	21	---	---	---	---
WNK2	65268	broad.mit.edu	37	9	96061478	96061478	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr9:96061478G>T	ENST00000297954.4	+	25	6161	c.6161G>T	c.(6160-6162)cGg>cTg	p.R2054L	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.R2017L|WNK2_ENST00000427277.2_Missense_Mutation_p.R1629L|WNK2_ENST00000349097.3_Missense_Mutation_p.R1666L	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2054					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R2002L(1)|p.R2054L(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGCTCCGTCCGGGCCTCCCTG	0.657																																						uc004ati.1																			2	Substitution - Missense(2)		lung(2)	lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						c.(6160-6162)CGG>CTG		WNK lysine deficient protein kinase 2							38.0	34.0	35.0					9																	96061478		2200	4290	6490	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96061478G>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6161G>T	9.37:g.96061478G>T	ENSP00000297954:p.Arg2054Leu					WNK2_uc011lud.1_Missense_Mutation_p.R2017L|WNK2_uc004atj.2_Missense_Mutation_p.R2017L|WNK2_uc004atk.2_Intron|WNK2_uc004atl.1_Missense_Mutation_p.R611L	p.R2054L	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			25	6161	+			2054					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.6161G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.443517|4.443517	0.83993|0.83993	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000432730;ENST00000448251;ENST00000453718|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277	.|T;T;T;T	.|0.71103	.|-0.54;-0.52;0.07;0.07	5.54|5.54	4.53|4.53	0.55603|0.55603	.|.	.|0.065012	.|0.64402	.|D	.|0.000016	T|T	0.73385|0.73385	0.3580|0.3580	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.71674	.|0.998;0.998;0.959;0.997	.|D;D;P;D	.|0.78314	.|0.942;0.991;0.535;0.987	T|T	0.74538|0.74538	-0.3632|-0.3632	5|10	.|0.62326	.|D	.|0.03	.|.	3.6067|3.6067	0.08045|0.08045	0.3511:0.0:0.6489:0.0|0.3511:0.0:0.6489:0.0	.|.	.|2017;2012;2017;2054	.|Q9Y3S1-2;A6PVR3;F8W9F9;Q9Y3S1	.|.;.;.;WNK2_HUMAN	W|L	2013;814;539|2054;2017;1666;1629	.|ENSP00000297954:R2054L;ENSP00000378860:R2017L;ENSP00000297876:R1666L;ENSP00000411181:R1629L	.|ENSP00000297954:R2054L	G|R	+|+	1|2	0|0	WNK2|WNK2	95101299|95101299	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	6.053000|6.053000	0.71089|0.71089	2.606000|2.606000	0.88127|0.88127	0.655000|0.655000	0.94253|0.94253	GGG|CGG		PASS	0.657	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		30	52	30	52	---	---	---	---
C9orf84	158401	broad.mit.edu	37	9	114521017	114521017	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr9:114521017A>G	ENST00000318737.4	-	4	490	c.362T>C	c.(361-363)tTa>tCa	p.L121S	C9orf84_ENST00000394777.4_Missense_Mutation_p.L82S|C9orf84_ENST00000374283.5_Missense_Mutation_p.L185S|C9orf84_ENST00000374287.3_Missense_Mutation_p.L121S|C9orf84_ENST00000394779.3_Missense_Mutation_p.L82S	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	121								p.L82S(1)|p.L121S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTGAAATCTAAAAGAGGATC	0.318																																						uc004bfr.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(361-363)TTA>TCA		hypothetical protein LOC158401 isoform 1							50.0	51.0	51.0					9																	114521017		2203	4298	6501	SO:0001583	missense	158401							g.chr9:114521017A>G	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.362T>C	9.37:g.114521017A>G	ENSP00000322108:p.Leu121Ser					C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfs.1_Missense_Mutation_p.L185S|C9orf84_uc004bfq.2_Missense_Mutation_p.L82S|C9orf84_uc010mug.2_Missense_Mutation_p.L67S	p.L121S	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN			4	497	-			121					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.362T>C	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	A	14.80	2.642095	0.47153	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	4.93	-1.63	0.08345	.	1.061960	0.07430	N	0.895581	T	0.47655	0.1457	L	0.32530	0.975	0.09310	N	0.999998	B;B;D;P	0.63046	0.017;0.077;0.992;0.944	B;B;P;P	0.60068	0.045;0.082;0.868;0.714	T	0.39722	-0.9600	10	0.54805	T	0.06	-0.0193	4.1694	0.10322	0.474:0.0:0.3657:0.1604	.	82;185;121;82	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	S	82;82;121;121;185	ENSP00000378259:L82S;ENSP00000378257:L82S;ENSP00000363405:L121S;ENSP00000322108:L121S;ENSP00000363401:L185S	ENSP00000322108:L121S	L	-	2	0	C9orf84	113560838	0.424000	0.25490	0.049000	0.19019	0.875000	0.50365	0.335000	0.19806	-0.460000	0.07003	0.477000	0.44152	TTA		PASS	0.318	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		10	13	10	13	---	---	---	---
ITIH2	3698	broad.mit.edu	37	10	7759670	7759670	+	Silent	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr10:7759670C>T	ENST00000358415.4	+	6	715	c.549C>T	c.(547-549)taC>taT	p.Y183Y	ITIH2_ENST00000379587.4_Silent_p.Y172Y|ITIH2_ENST00000480387.1_3'UTR	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	183	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Y183Y(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AACTTCACTACCAGGAGGTGA	0.517																																						uc001ijs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(547-549)TAC>TAT		inter-alpha globulin inhibitor H2 polypeptide							159.0	157.0	158.0					10																	7759670		2203	4300	6503	SO:0001819	synonymous_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7759670C>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.549C>T	10.37:g.7759670C>T							p.Y183Y	NM_002216	NP_002207	P19823	ITIH2_HUMAN			6	711	+			183			VIT.		Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	c.549C>T	CCDS31141.1																																																																																				PASS	0.517	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		42	204	42	204	---	---	---	---
GJD4	219770	broad.mit.edu	37	10	35896661	35896661	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr10:35896661C>T	ENST00000321660.1	+	2	378	c.220C>T	c.(220-222)Cac>Tac	p.H74Y	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	74					cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.H74Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCCCGTGTCTCACCTGCGGTT	0.657																																						uc001iyy.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(220-222)CAC>TAC		connexin40.1							187.0	156.0	166.0					10																	35896661		2203	4300	6503	SO:0001583	missense	219770				cell communication	connexon complex|integral to membrane		g.chr10:35896661C>T	AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"""Ion channels / Gap junction proteins (connexins)"""	23296	protein-coding gene	gene with protein product	"""connexin 40.1"""	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.220C>T	10.37:g.35896661C>T	ENSP00000315070:p.His74Tyr						p.H74Y	NM_153368	NP_699199	Q96KN9	CXD4_HUMAN			2	378	+			74			Extracellular (Potential).		Q8N2R7	Missense_Mutation	SNP	ENST00000321660.1	37	c.220C>T	CCDS7191.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856827	0.71834	.	.	ENSG00000177291	ENST00000321660	D	0.99239	-5.61	6.11	6.11	0.99139	Connexin, N-terminal (2);	0.468547	0.25885	N	0.027664	D	0.99312	0.9759	M	0.91406	3.205	0.40164	D	0.977094	P	0.46784	0.884	P	0.48425	0.577	D	0.99917	1.1233	10	0.66056	D	0.02	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	74	Q96KN9	CXD4_HUMAN	Y	74	ENSP00000315070:H74Y	ENSP00000315070:H74Y	H	+	1	0	GJD4	35936667	0.999000	0.42202	0.136000	0.22124	0.198000	0.23893	6.087000	0.71362	2.906000	0.99361	0.655000	0.94253	CAC		PASS	0.657	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047576.1	NM_153368		60	306	60	306	---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49448520	49448520	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr10:49448520C>A	ENST00000374201.3	-	6	885	c.583G>T	c.(583-585)Gtg>Ttg	p.V195L	FRMPD2_ENST00000407470.4_Missense_Mutation_p.V164L|FRMPD2_ENST00000305531.3_Missense_Mutation_p.V171L	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	195	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.V195L(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTTTCCTCCACAACTCTTTTC	0.557																																						uc001jgi.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(583-585)GTG>TTG		FERM and PDZ domain containing 2 isoform 3							68.0	61.0	63.0					10																	49448520		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49448520C>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.583G>T	10.37:g.49448520C>A	ENSP00000363317:p.Val195Leu					FRMPD2_uc001jgh.2_Missense_Mutation_p.V164L|FRMPD2_uc001jgj.2_Missense_Mutation_p.V173L	p.V195L	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	6	690	-			195			KIND.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.583G>T	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	4.187	0.033429	0.08101	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.28895	1.59;1.59;1.59	4.37	2.47	0.30058	KIND (2);	.	.	.	.	T	0.20861	0.0502	L	0.40543	1.245	0.09310	N	1	P;B;P	0.40970	0.734;0.179;0.734	B;B;B	0.36418	0.224;0.064;0.224	T	0.09122	-1.0689	9	0.33940	T	0.23	.	5.9925	0.19474	0.0:0.7017:0.1933:0.105	.	171;195;164	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	L	195;171;164	ENSP00000363317:V195L;ENSP00000307079:V171L;ENSP00000384339:V164L	ENSP00000307079:V171L	V	-	1	0	FRMPD2	49118526	0.009000	0.17119	0.048000	0.18961	0.908000	0.53690	0.149000	0.16243	0.580000	0.29522	0.655000	0.94253	GTG		PASS	0.557	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		13	68	13	68	---	---	---	---
SLC18A3	6572	broad.mit.edu	37	10	50820269	50820269	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr10:50820269G>T	ENST00000374115.3	+	1	1923	c.1483G>T	c.(1483-1485)Gat>Tat	p.D495Y	CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395559.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	495					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.D495Y(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						AGGTCTGTACGATGCGGTGCG	0.647																																						uc001jhw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1483-1485)GAT>TAT		vesicular acetylcholine transporter							64.0	62.0	63.0					10																	50820269		2203	4300	6503	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50820269G>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1483G>T	10.37:g.50820269G>T	ENSP00000363229:p.Asp495Tyr					CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.D495Y	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	1923	+			495			Cytoplasmic (Potential).		B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.1483G>T	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.890898	0.72524	.	.	ENSG00000187714	ENST00000374115	T	0.06068	3.35	4.86	4.86	0.63082	.	0.000000	0.85682	U	0.000000	T	0.18882	0.0453	L	0.45137	1.4	0.58432	D	0.999999	D	0.76494	0.999	D	0.69142	0.962	T	0.00666	-1.1619	10	0.66056	D	0.02	-14.1493	17.9851	0.89153	0.0:0.0:1.0:0.0	.	495	Q16572	VACHT_HUMAN	Y	495	ENSP00000363229:D495Y	ENSP00000363229:D495Y	D	+	1	0	SLC18A3	50490275	1.000000	0.71417	0.999000	0.59377	0.764000	0.43329	7.626000	0.83164	2.257000	0.74773	0.555000	0.69702	GAT		PASS	0.647	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		4	149	4	149	---	---	---	---
ZNF365	22891	broad.mit.edu	37	10	64136627	64136627	+	Silent	SNP	C	C	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr10:64136627C>A	ENST00000395254.3	+	2	955	c.675C>A	c.(673-675)gcC>gcA	p.A225A	ZNF365_ENST00000395255.3_Silent_p.A225A|ZNF365_ENST00000410046.3_Silent_p.A225A|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0								p.A225A(3)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGGACGTGGCCGTGGAAATGA	0.522																																						uc001jmc.2																			3	Substitution - coding silent(3)		lung(3)	ovary(1)|skin(1)	2						c.(673-675)GCC>GCA		zinc finger protein 365 isoform C							84.0	92.0	89.0					10																	64136627		2203	4300	6503	SO:0001819	synonymous_variant	22891							g.chr10:64136627C>A	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.675C>A	10.37:g.64136627C>A						ZNF365_uc001jly.3_Silent_p.A240A|ZNF365_uc001jmb.3_Silent_p.A225A|ZNF365_uc001jlz.3_Silent_p.A225A|ZNF365_uc001jma.3_Intron	p.A225A	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN			2	990	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		Error:Variant_position_missing_in_Q70YC4_after_alignment						Silent	SNP	ENST00000395254.3	37	c.675C>A	CCDS31209.1																																																																																				PASS	0.522	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		51	78	51	78	---	---	---	---
LRRTM3	347731	broad.mit.edu	37	10	68687044	68687044	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr10:68687044T>A	ENST00000361320.4	+	2	948	c.370T>A	c.(370-372)Ttt>Att	p.F124I	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	124					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.F124I(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AATCTCCTATTTTCTTAACAA	0.393																																						uc001jmz.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(370-372)TTT>ATT		leucine rich repeat transmembrane neuronal 3							104.0	111.0	108.0					10																	68687044		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68687044T>A	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.370T>A	10.37:g.68687044T>A	ENSP00000355187:p.Phe124Ile					CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.F124I	p.F124I	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	920	+			124			LRR 3.|Extracellular (Potential).		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.370T>A	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	T	8.346	0.829769	0.16749	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.03386	3.95	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000003	T	0.01254	0.0041	N	0.00335	-1.625	0.42933	D	0.994328	B;B	0.06786	0.001;0.001	B;B	0.14023	0.0;0.01	T	0.54906	-0.8223	10	0.11485	T	0.65	.	14.4616	0.67453	0.0:0.0:0.0:1.0	.	124;124	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	I	124	ENSP00000355187:F124I	ENSP00000355187:F124I	F	+	1	0	LRRTM3	68357050	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.212000	0.51145	2.056000	0.61249	0.533000	0.62120	TTT		PASS	0.393	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		85	103	85	103	---	---	---	---
CYP2C8	1558	broad.mit.edu	37	10	96802818	96802818	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr10:96802818C>A	ENST00000371270.3	-	7	1072	c.978G>T	c.(976-978)gaG>gaT	p.E326D	CYP2C8_ENST00000535898.1_Missense_Mutation_p.E224D|CYP2C8_ENST00000539050.1_Missense_Mutation_p.E240D	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	326					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.E326D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	CATGATCAATCTCTTCCTGGA	0.438																																						uc001kkb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(976-978)GAG>GAT		cytochrome P450, family 2, subfamily C,	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						162.0	132.0	142.0					10																	96802818		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96802818C>A	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.978G>T	10.37:g.96802818C>A	ENSP00000360317:p.Glu326Asp					CYP2C8_uc001kkc.2_RNA|CYP2C8_uc010qoa.1_Missense_Mutation_p.E256D|CYP2C8_uc010qob.1_Missense_Mutation_p.E240D|CYP2C8_uc010qoc.1_Missense_Mutation_p.E224D|CYP2C8_uc010qod.1_Missense_Mutation_p.E240D	p.E326D	NM_000770	NP_000761	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	7	1073	-		Colorectal(252;0.0397)	326					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.978G>T	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582430	0.46006	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.42900	0.96;0.96;0.96	4.49	1.33	0.21861	.	0.000000	0.64402	U	0.000001	T	0.70011	0.3175	H	0.96301	3.8	0.33132	D	0.543161	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.986;0.999;0.998;0.998	T	0.75977	-0.3127	10	0.87932	D	0	.	7.7459	0.28869	0.0:0.607:0.0:0.393	.	240;224;294;326	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	D	326;293;224;240	ENSP00000360317:E326D;ENSP00000445062:E224D;ENSP00000442343:E240D	ENSP00000360317:E326D	E	-	3	2	CYP2C8	96792808	1.000000	0.71417	0.960000	0.40013	0.546000	0.35178	0.928000	0.28831	0.168000	0.19655	-1.128000	0.01989	GAG		PASS	0.438	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		37	19	37	19	---	---	---	---
KCNK18	338567	broad.mit.edu	37	10	118969311	118969311	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr10:118969311C>T	ENST00000334549.1	+	3	656	c.656C>T	c.(655-657)tCa>tTa	p.S219L		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	219					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.S219L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		ACATGTCCTTCACGCCCAAGC	0.532																																						uc010qsr.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(655-657)TCA>TTA		potassium channel, subfamily K, member 18							80.0	80.0	80.0					10																	118969311		2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118969311C>T	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.656C>T	10.37:g.118969311C>T	ENSP00000334650:p.Ser219Leu						p.S219L	NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	3	656	+		Colorectal(252;0.19)	219			Cytoplasmic (Potential).		Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.656C>T	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777593	0.31502	.	.	ENSG00000186795	ENST00000334549	T	0.14516	2.5	4.72	0.767	0.18482	.	1.364740	0.04456	N	0.373508	T	0.10551	0.0258	L	0.27053	0.805	0.09310	N	1	B	0.30763	0.294	B	0.27887	0.084	T	0.37454	-0.9705	10	0.27082	T	0.32	.	8.7324	0.34507	0.0:0.665:0.0:0.335	.	219	Q7Z418	KCNKI_HUMAN	L	219	ENSP00000334650:S219L	ENSP00000334650:S219L	S	+	2	0	KCNK18	118959301	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.423000	0.07034	0.037000	0.15575	-0.119000	0.15052	TCA		PASS	0.532	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		5	68	5	68	---	---	---	---
SPTY2D1	144108	broad.mit.edu	37	11	18636721	18636721	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr11:18636721C>G	ENST00000336349.5	-	3	1335	c.1100G>C	c.(1099-1101)gGt>gCt	p.G367A	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	367	Ser-rich.							p.G367A(1)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CTGCCTGACACCTGGACTCTT	0.587																																						uc001moy.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1099-1101)GGT>GCT		SPT2, Suppressor of Ty, domain containing 1							100.0	107.0	105.0					11																	18636721		2199	4293	6492	SO:0001583	missense	144108							g.chr11:18636721C>G	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1100G>C	11.37:g.18636721C>G	ENSP00000337991:p.Gly367Ala					SPTY2D1_uc010rdi.1_Missense_Mutation_p.G367A	p.G367A	NM_194285	NP_919261	Q68D10	SPT2_HUMAN			3	1316	-			367			Ser-rich.		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	c.1100G>C	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987699	0.53934	.	.	ENSG00000179119	ENST00000336349	T	0.23147	1.92	5.84	4.91	0.64330	.	0.519166	0.21127	N	0.079718	T	0.14442	0.0349	L	0.29908	0.895	0.26920	N	0.966709	B	0.09022	0.002	B	0.06405	0.002	T	0.33879	-0.9851	10	0.05525	T	0.97	-5.233	7.5587	0.27839	0.1264:0.6841:0.1221:0.0674	.	367	Q68D10	SPT2_HUMAN	A	367	ENSP00000337991:G367A	ENSP00000337991:G367A	G	-	2	0	SPTY2D1	18593297	0.103000	0.21917	1.000000	0.80357	0.959000	0.62525	1.055000	0.30467	1.438000	0.47492	0.563000	0.77884	GGT		PASS	0.587	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		5	235	5	235	---	---	---	---
OR4S2	219431	broad.mit.edu	37	11	55419124	55419125	+	Missense_Mutation	DNP	TT	TT	AA			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr11:55419124_55419125TT>AA	ENST00000312422.2	+	1	745_746	c.745_746TT>AA	c.(745-747)TTc>AAc	p.F249N		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F249N(1)|p.F249Y(1)|p.F249I(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CGTTATCTTTTTCGGCCCCTGT	0.48																																						uc001nhs.1																			3	Substitution - Missense(3)		lung(3)	skin(2)|ovary(1)	3						c.(745-747)TTC>ATC|c.(745-747)TTC>TAC		olfactory receptor, family 4, subfamily S,																																				SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55419124T>A|g.chr11:55419125T>A	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	Exception_encountered	11.37:g.55419124_55419125delinsAA	ENSP00000310337:p.Phe249Asn						p.F249I|p.F249Y	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	745|746	+		all_epithelial(135;0.0748)	249			Helical; Name=6; (Potential).		Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.745T>A|c.746T>A	CCDS31505.1																																																																																				PASS	0.480	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		16	90|87	16	87	---	---	---	---
OR5M8	219484	broad.mit.edu	37	11	56258190	56258190	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr11:56258190G>T	ENST00000327216.2	-	1	681	c.657C>A	c.(655-657)taC>taA	p.Y219*		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y219*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CAGGGAAAATGTAAAGGTAGG	0.408																																						uc001nix.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(655-657)TAC>TAA		olfactory receptor, family 5, subfamily M,							47.0	50.0	49.0					11																	56258190		2201	4296	6497	SO:0001587	stop_gained	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258190G>T	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.657C>A	11.37:g.56258190G>T	ENSP00000323354:p.Tyr219*						p.Y219*	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	657	-	Esophageal squamous(21;0.00352)		219			Cytoplasmic (Potential).		B2RNM5|Q6IEW3|Q96RB8	Nonsense_Mutation	SNP	ENST00000327216.2	37	c.657C>A	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	3.193	-0.165392	0.06461	.	.	ENSG00000181371	ENST00000327216	.	.	.	4.35	-3.42	0.04825	.	0.000000	0.36444	N	0.002599	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-15.6032	11.4288	0.50027	0.3847:0.0:0.6153:0.0	.	.	.	.	X	219	.	ENSP00000323354:Y219X	Y	-	3	2	OR5M8	56014766	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-3.087000	0.00610	-0.448000	0.07128	-0.399000	0.06403	TAC		PASS	0.408	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		21	50	21	50	---	---	---	---
OR5B2	390190	broad.mit.edu	37	11	58190445	58190445	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr11:58190445A>G	ENST00000302581.2	-	1	341	c.290T>C	c.(289-291)gTt>gCt	p.V97A		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V97A(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAACATCTGAACAGCACATGC	0.502																																						uc010rkg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(289-291)GTT>GCT		olfactory receptor, family 5, subfamily B,							150.0	126.0	134.0					11																	58190445		2201	4295	6496	SO:0001583	missense	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58190445A>G	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.290T>C	11.37:g.58190445A>G	ENSP00000303076:p.Val97Ala						p.V97A	NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN			1	290	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	97			Extracellular (Potential).		B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	c.290T>C	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	a	0.003	-2.406141	0.00193	.	.	ENSG00000172365	ENST00000302581	T	0.03065	4.06	3.82	-0.339	0.12647	GPCR, rhodopsin-like superfamily (1);	0.224065	0.22386	N	0.060750	T	0.00998	0.0033	N	0.00778	-1.195	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48399	-0.9039	10	0.02654	T	1	-1.1883	8.5373	0.33371	0.3958:0.0:0.6042:0.0	.	97	Q96R09	OR5B2_HUMAN	A	97	ENSP00000303076:V97A	ENSP00000303076:V97A	V	-	2	0	OR5B2	57947021	0.000000	0.05858	0.080000	0.20451	0.146000	0.21551	-0.024000	0.12435	0.068000	0.16574	-0.481000	0.04817	GTT		PASS	0.502	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		25	68	25	68	---	---	---	---
OR5A2	219981	broad.mit.edu	37	11	59190177	59190177	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr11:59190177A>G	ENST00000302040.4	-	1	272	c.250T>C	c.(250-252)Tct>Cct	p.S84P		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S84P(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ATGATGTCAGACAGCATCTTA	0.502																																						uc010rkt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)TCT>CCT		olfactory receptor, family 5, subfamily A,							116.0	109.0	112.0					11																	59190177		2201	4295	6496	SO:0001583	missense	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59190177A>G	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.250T>C	11.37:g.59190177A>G	ENSP00000303834:p.Ser84Pro						p.S84P	NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN			1	250	-			84			Extracellular (Potential).		B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	c.250T>C	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	A	10.59	1.393984	0.25205	.	.	ENSG00000172324	ENST00000302040	T	0.00402	7.56	5.47	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.269269	0.19496	U	0.112860	T	0.00412	0.0013	M	0.69823	2.125	0.09310	N	1	P	0.37663	0.604	B	0.41271	0.352	T	0.43458	-0.9390	10	0.52906	T	0.07	.	2.7006	0.05148	0.5428:0.2437:0.0827:0.1308	.	84	Q8NGI9	OR5A2_HUMAN	P	84	ENSP00000303834:S84P	ENSP00000303834:S84P	S	-	1	0	OR5A2	58946753	0.000000	0.05858	0.114000	0.21550	0.038000	0.13279	-0.887000	0.04152	0.447000	0.26695	0.477000	0.44152	TCT		PASS	0.502	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		28	44	28	44	---	---	---	---
PLCB3	5331	broad.mit.edu	37	11	64032799	64032799	+	Silent	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr11:64032799C>T	ENST00000540288.1	+	25	2963	c.2860C>T	c.(2860-2862)Ctg>Ttg	p.L954L	PLCB3_ENST00000279230.6_Silent_p.L954L|PLCB3_ENST00000325234.5_Silent_p.L887L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	954					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.L954L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCCCACCCCGCTGGATGAGCT	0.692																																						uc001nzb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2860-2862)CTG>TTG		phospholipase C beta 3							9.0	11.0	10.0					11																	64032799		2104	4213	6317	SO:0001819	synonymous_variant	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64032799C>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2860C>T	11.37:g.64032799C>T						PLCB3_uc009ypg.1_Silent_p.L954L|PLCB3_uc009yph.1_Silent_p.L887L|PLCB3_uc009ypi.2_Silent_p.L954L	p.L954L	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			25	2860	+			954					A5PKZ6|G5E960|Q8N1A4	Silent	SNP	ENST00000540288.1	37	c.2860C>T	CCDS8064.1																																																																																				PASS	0.692	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			4	16	4	16	---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64427952	64427952	+	Silent	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr11:64427952G>A	ENST00000377551.1	-	10	2452	c.2241C>T	c.(2239-2241)aaC>aaT	p.N747N	NRXN2_ENST00000377559.3_Silent_p.N716N|NRXN2_ENST00000265459.6_Silent_p.N747N|NRXN2_ENST00000496291.1_5'UTR|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Silent_p.N740N			Q9P2S2	NRX2A_HUMAN	neurexin 2	747	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.N747N(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGTGCATGGCGTTAGGCAGCA	0.597																																						uc001oar.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(2239-2241)AAC>AAT		neurexin 2 isoform alpha-1 precursor							140.0	105.0	117.0					11																	64427952		2201	4297	6498	SO:0001819	synonymous_variant	9379				cell adhesion	integral to membrane		g.chr11:64427952G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2241C>T	11.37:g.64427952G>A						NRXN2_uc001oas.2_Silent_p.N716N|NRXN2_uc001oaq.2_Silent_p.N414N	p.N747N	NM_015080	NP_055895	P58401	NRX2B_HUMAN			12	2680	-			Error:Variant_position_missing_in_P58401_after_alignment					A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	c.2241C>T	CCDS8077.1																																																																																				PASS	0.597	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		22	72	22	72	---	---	---	---
PTPRCAP	5790	broad.mit.edu	37	11	67203563	67203563	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr11:67203563C>T	ENST00000326294.3	-	2	709	c.262G>A	c.(262-264)Ggt>Agt	p.G88S	AP003419.16_ENST00000535922.1_RNA|CORO1B_ENST00000539724.1_5'Flank	NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type, C-associated protein	88					defense response (GO:0006952)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G88S(1)		skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AGCCAGCGACCTGGGGGGCTG	0.701																																						uc001oli.1																			1	Substitution - Missense(1)		lung(1)		0						c.(262-264)GGT>AGT		protein tyrosine phosphatase, receptor type,							22.0	19.0	20.0					11																	67203563		2180	4243	6423	SO:0001583	missense	5790				defense response	integral to membrane|plasma membrane		g.chr11:67203563C>T		CCDS8163.1	11q13.2	2011-06-09			ENSG00000213402	ENSG00000213402			9667	protein-coding gene	gene with protein product		601577					Standard	NM_005608		Approved	LPAP, CD45-AP	uc001oli.1	Q14761	OTTHUMG00000150325	ENST00000326294.3:c.262G>A	11.37:g.67203563C>T	ENSP00000325589:p.Gly88Ser						p.G88S	NM_005608	NP_005599	Q14761	PTCA_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		2	325	-			88					B2R512|O00643|Q6I9S6	Missense_Mutation	SNP	ENST00000326294.3	37	c.262G>A	CCDS8163.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965679	0.74131	.	.	ENSG00000213402	ENST00000326294	T	0.47869	0.83	5.11	4.2	0.49525	.	0.594559	0.12785	U	0.439315	T	0.46249	0.1383	L	0.34521	1.04	0.09310	N	1	D	0.54964	0.969	P	0.51135	0.66	T	0.27536	-1.0071	10	0.56958	D	0.05	-8.0428	9.4374	0.38648	0.0:0.9018:0.0:0.0982	.	88	Q14761	PTCA_HUMAN	S	88	ENSP00000325589:G88S	ENSP00000325589:G88S	G	-	1	0	PTPRCAP	66960139	0.001000	0.12720	0.919000	0.36401	0.867000	0.49689	0.541000	0.23207	1.164000	0.42652	0.561000	0.74099	GGT		PASS	0.701	PTPRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317563.1	NM_005608		13	30	13	30	---	---	---	---
C11orf24	53838	broad.mit.edu	37	11	68030121	68030121	+	Silent	SNP	C	C	T	rs549353420		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr11:68030121C>T	ENST00000304271.6	-	4	744	c.342G>A	c.(340-342)acG>acA	p.T114T	C11orf24_ENST00000533310.1_Intron|C11orf24_ENST00000530166.1_5'UTR	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	114						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T114T(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						AGGCCGCAGTCGTACTGGAGG	0.592																																					NSCLC(21;855 905 4198 36694)	uc001onr.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(340-342)ACG>ACA		hypothetical protein LOC53838 precursor							88.0	63.0	71.0					11																	68030121		2200	4294	6494	SO:0001819	synonymous_variant	53838					integral to membrane		g.chr11:68030121C>T	AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.342G>A	11.37:g.68030121C>T						C11orf24_uc001ons.2_Silent_p.T114T	p.T114T	NM_022338	NP_071733	Q96F05	CK024_HUMAN			4	784	-			114			Extracellular (Potential).		Q9H2K4	Silent	SNP	ENST00000304271.6	37	c.342G>A	CCDS8180.1																																																																																				PASS	0.592	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1	NM_022338		12	49	12	49	---	---	---	---
RNF169	254225	broad.mit.edu	37	11	74555221	74555221	+	IGR	SNP	C	C	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr11:74555221C>G	ENST00000299563.4	+	0	7823				XRRA1_ENST00000340360.6_Missense_Mutation_p.E671Q|XRRA1_ENST00000527087.1_Missense_Mutation_p.E584Q|XRRA1_ENST00000321448.8_Missense_Mutation_p.E396Q|RN7SL239P_ENST00000490061.2_RNA	NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169						cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)	p.E671Q(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						ACCCGTTTCTCTTTGTGAACA	0.522																																						uc009yub.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2011-2013)GAG>CAG		X-ray radiation resistance associated 1							247.0	248.0	247.0					11																	74555221		1973	4156	6129	SO:0001628	intergenic_variant	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74555221C>G	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516		11.37:g.74555221C>G						XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovn.2_Missense_Mutation_p.E294Q|XRRA1_uc001ovo.2_Missense_Mutation_p.E279Q|XRRA1_uc001ovq.3_Missense_Mutation_p.E584Q|XRRA1_uc001ovp.3_Missense_Mutation_p.E396Q|XRRA1_uc001ovr.2_Missense_Mutation_p.E294Q|XRRA1_uc001ovs.1_Missense_Mutation_p.E273Q	p.E671Q	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN			17	2343	-			671					Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	c.2011G>C	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460670	0.43736	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.55588	0.62;1.35;0.51	4.85	3.92	0.45320	.	0.156395	0.44902	D	0.000412	T	0.64670	0.2619	L	0.59436	1.845	0.27519	N	0.951466	B;D;P;P;D;D;D	0.89917	0.15;0.992;0.947;0.867;1.0;1.0;1.0	B;P;P;P;D;D;D	0.85130	0.068;0.856;0.634;0.553;0.997;0.997;0.992	T	0.56823	-0.7915	10	0.23302	T	0.38	-20.2853	11.6568	0.51324	0.0:0.6538:0.3462:0.0	.	671;273;227;584;615;281;657	Q6P2D8;B3KRF2;E9PP69;Q6P2D8-2;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.;.;.;.	Q	671;396;657;615;584	ENSP00000339918:E671Q;ENSP00000319303:E396Q;ENSP00000435838:E584Q	ENSP00000319303:E396Q	E	-	1	0	XRRA1	74232869	0.950000	0.32346	0.998000	0.56505	0.304000	0.27724	0.661000	0.25023	1.371000	0.46172	0.491000	0.48974	GAG		PASS	0.522	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		55	251	55	251	---	---	---	---
GRIA4	2893	broad.mit.edu	37	11	105845102	105845102	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr11:105845102G>T	ENST00000530497.1	+	15	2475	c.2475G>T	c.(2473-2475)ttG>ttT	p.L825F	GRIA4_ENST00000393127.2_Missense_Mutation_p.L825F|RNU6-277P_ENST00000516272.1_RNA|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_Missense_Mutation_p.L825F|GRIA4_ENST00000282499.5_Missense_Mutation_p.L825F			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	825					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.L825F(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TTGGCGGCTTGGGCTTGGCAA	0.498																																						uc001pix.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(2473-2475)TTG>TTT		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						169.0	153.0	158.0					11																	105845102		2201	4299	6500	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105845102G>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2475G>T	11.37:g.105845102G>T	ENSP00000435775:p.Leu825Phe					GRIA4_uc001piw.2_Missense_Mutation_p.L825F|GRIA4_uc010rvm.1_RNA|GRIA4_uc009yxl.1_RNA	p.L825F	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	16	2921	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	825			Helical; (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.2475G>T	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000563	0.74818	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.71	4.8	0.61643	Ionotropic glutamate receptor (1);	0.000000	0.53938	D	0.000060	T	0.76449	0.3989	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.81861	-0.0738	10	0.87932	D	0	.	14.5664	0.68179	0.0703:0.0:0.9297:0.0	.	825;825	P48058;G3V164	GRIA4_HUMAN;.	F	825	ENSP00000282499:L825F;ENSP00000376835:L825F;ENSP00000435775:L825F;ENSP00000432180:L825F	ENSP00000282499:L825F	L	+	3	2	GRIA4	105350312	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.346000	0.52190	1.406000	0.46857	0.655000	0.94253	TTG		PASS	0.498	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			16	76	16	76	---	---	---	---
EXPH5	23086	broad.mit.edu	37	11	108382901	108382901	+	Silent	SNP	T	T	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr11:108382901T>C	ENST00000265843.4	-	6	3443	c.3333A>G	c.(3331-3333)agA>agG	p.R1111R	EXPH5_ENST00000525344.1_Silent_p.R1104R|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000428840.1_Silent_p.R1035R|EXPH5_ENST00000443411.1_Silent_p.R923R	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1111					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.R1111R(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GTGGTCCTTTTCTAACGGAAG	0.468																																						uc001pkk.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(3331-3333)AGA>AGG		exophilin 5 isoform a							150.0	154.0	153.0					11																	108382901		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108382901T>C		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3333A>G	11.37:g.108382901T>C						EXPH5_uc010rvy.1_Silent_p.R923R|EXPH5_uc010rvz.1_Silent_p.R955R|EXPH5_uc010rwa.1_Silent_p.R1035R	p.R1111R	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	3444	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1111					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.3333A>G	CCDS8341.1																																																																																				PASS	0.468	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		18	79	18	79	---	---	---	---
CRTAM	56253	broad.mit.edu	37	11	122720810	122720810	+	Silent	SNP	C	C	A	rs151156247		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr11:122720810C>A	ENST00000227348.4	+	2	128	c.81C>A	c.(79-81)acC>acA	p.T27T		NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule									p.T27T(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AAACCATCACCGTGGAGGAAG	0.532																																						uc001pyj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(79-81)ACC>ACA		class-I MHC-restricted T cell associated							102.0	97.0	99.0					11																	122720810		2202	4299	6501	SO:0001819	synonymous_variant	56253				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	g.chr11:122720810C>A	AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.81C>A	11.37:g.122720810C>A							p.T27T	NM_019604	NP_062550	O95727	CRTAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	2	81	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	27			Ig-like V-type.|Extracellular (Potential).			Silent	SNP	ENST00000227348.4	37	c.81C>A	CCDS8437.1																																																																																				PASS	0.532	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604		3	37	3	37	---	---	---	---
OR8D1	283159	broad.mit.edu	37	11	124180028	124180028	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr11:124180028A>G	ENST00000357821.2	-	1	705	c.635T>C	c.(634-636)cTa>cCa	p.L212P		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L212P(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGCAACAGCTAGGGTGGGCAC	0.507																																						uc010sag.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(634-636)CTA>CCA		olfactory receptor, family 8, subfamily D,							58.0	46.0	50.0					11																	124180028		2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124180028A>G	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.635T>C	11.37:g.124180028A>G	ENSP00000350474:p.Leu212Pro						p.L212P	NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	635	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	212			Helical; Name=5; (Potential).		B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.635T>C	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	a	13.35	2.212464	0.39102	.	.	ENSG00000196341	ENST00000357821	T	0.44881	0.91	4.29	0.5	0.16919	GPCR, rhodopsin-like superfamily (1);	0.320792	0.16949	U	0.192984	T	0.64853	0.2636	M	0.92784	3.345	0.19300	N	0.99998	D	0.57899	0.981	D	0.65140	0.932	T	0.55717	-0.8097	10	0.87932	D	0	.	6.9389	0.24483	0.4597:0.457:0.0833:0.0	.	212	Q8WZ84	OR8D1_HUMAN	P	212	ENSP00000350474:L212P	ENSP00000350474:L212P	L	-	2	0	OR8D1	123685238	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.143000	0.16115	-0.071000	0.12886	0.416000	0.27883	CTA		PASS	0.507	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		22	14	22	14	---	---	---	---
CDON	50937	broad.mit.edu	37	11	125867207	125867207	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr11:125867207C>T	ENST00000392693.3	-	12	2384	c.2257G>A	c.(2257-2259)Gcc>Acc	p.A753T	CDON_ENST00000263577.7_Missense_Mutation_p.A753T|CDON_ENST00000531738.1_Missense_Mutation_p.A130T	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	753	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A753T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ACTTTGAAGGCAGTGATTGGA	0.498																																						uc009zbw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|breast(1)	6						c.(2257-2259)GCC>ACC		surface glycoprotein, Ig superfamily member							115.0	91.0	99.0					11																	125867207		2201	4299	6500	SO:0001583	missense	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125867207C>T	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2257G>A	11.37:g.125867207C>T	ENSP00000376458:p.Ala753Thr					CDON_uc001qdb.3_Missense_Mutation_p.A130T|CDON_uc001qdc.3_Missense_Mutation_p.A753T	p.A753T	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	12	2385	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	753			Fibronectin type-III 2.|Extracellular (Potential).		O14631	Missense_Mutation	SNP	ENST00000392693.3	37	c.2257G>A	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666108	0.88251	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.56611	0.45;0.45;0.45	5.67	5.67	0.87782	Fibronectin, type III (4);	0.000000	0.53938	D	0.000057	T	0.61578	0.2358	L	0.28504	0.86	0.54753	D	0.999986	D;D;P	0.89917	1.0;0.999;0.944	D;D;D	0.77004	0.989;0.965;0.909	T	0.63862	-0.6541	10	0.72032	D	0.01	-24.9972	14.5928	0.68383	0.1459:0.8541:0.0:0.0	.	753;753;130	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	T	753;130;753	ENSP00000376458:A753T;ENSP00000432901:A130T;ENSP00000263577:A753T	ENSP00000263577:A753T	A	-	1	0	CDON	125372417	0.990000	0.36364	0.990000	0.47175	0.989000	0.77384	2.859000	0.48364	2.680000	0.91292	0.563000	0.77884	GCC		PASS	0.498	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		11	31	11	31	---	---	---	---
KLRC1	3821	broad.mit.edu	37	12	10601878	10601878	+	Silent	SNP	C	C	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr12:10601878C>G	ENST00000359151.3	-	5	628	c.447G>C	c.(445-447)tcG>tcC	p.S149S	KLRC1_ENST00000544822.1_Silent_p.S149S|KLRC1_ENST00000347831.5_Silent_p.S131S|KLRC1_ENST00000536188.1_Silent_p.S149S|KLRC1_ENST00000408006.3_Silent_p.S131S	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	149	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.S149S(2)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						TGGAGTTCTTCGAAGTACAGG	0.368																																						uc001qyl.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)		0						c.(445-447)TCG>TCC		killer cell lectin-like receptor subfamily C,							171.0	179.0	177.0					12																	10601878		2203	4297	6500	SO:0001819	synonymous_variant	3821				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10601878C>G	U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"""Killer cell lectin-like receptors"", ""CD molecules"""	6374	protein-coding gene	gene with protein product	"""NKG2-1/B activating NK receptor"""	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.447G>C	12.37:g.10601878C>G						KLRC1_uc009zhm.1_Silent_p.S149S|KLRC1_uc001qym.2_Silent_p.S131S|KLRC1_uc001qyn.2_Silent_p.S149S|KLRC1_uc001qyo.2_Silent_p.S131S	p.S149S	NM_002259	NP_002250	P26715	NKG2A_HUMAN			5	611	-			149			C-type lectin.|Extracellular (Potential).			Silent	SNP	ENST00000359151.3	37	c.447G>C	CCDS8625.1	.	.	.	.	.	.	.	.	.	.	c	1.832	-0.469482	0.04445	.	.	ENSG00000134545	ENST00000543893	.	.	.	4.36	-3.9	0.04181	.	.	.	.	.	T	0.17704	0.0425	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.22977	-1.0201	4	.	.	.	.	1.375	0.02218	0.2337:0.2276:0.3547:0.184	.	.	.	.	P	29	.	.	R	-	2	0	KLRC1	10493145	0.000000	0.05858	0.037000	0.18230	0.000000	0.00434	-1.511000	0.02260	-1.199000	0.02666	-3.577000	0.00029	CGA		PASS	0.368	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400115.1	NM_002259		20	150	20	150	---	---	---	---
LRP6	4040	broad.mit.edu	37	12	12311984	12311984	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr12:12311984C>T	ENST00000261349.4	-	12	2646	c.2570G>A	c.(2569-2571)cGt>cAt	p.R857H	LRP6_ENST00000543091.1_Missense_Mutation_p.R857H	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	857	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R857L(1)|p.R857H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTTGTTGGCACGCTCAATGCT	0.488																																						uc001rah.3																			2	Substitution - Missense(2)		lung(2)	lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(2569-2571)CGT>CAT		low density lipoprotein receptor-related protein							209.0	144.0	166.0					12																	12311984		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12311984C>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2570G>A	12.37:g.12311984C>T	ENSP00000261349:p.Arg857His					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R857H	p.R857H	NM_002336	NP_002327	O75581	LRP6_HUMAN			12	2712	-		Prostate(47;0.0865)	857			Extracellular (Potential).|Beta-propeller 3.|LDL-receptor class B 15.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.2570G>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149445	0.94645	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.96300	-3.97;-3.97	5.78	5.78	0.91487	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.56097	U	0.000035	D	0.98607	0.9534	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.98922	1.0784	10	0.62326	D	0.03	.	20.0124	0.97464	0.0:1.0:0.0:0.0	.	857;857	F5H7J9;O75581	.;LRP6_HUMAN	H	857	ENSP00000261349:R857H;ENSP00000442472:R857H	ENSP00000261349:R857H	R	-	2	0	LRP6	12203251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.749000	0.94314	0.655000	0.94253	CGT		PASS	0.488	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			23	34	23	34	---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	21960410	21960410	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr12:21960410G>C	ENST00000261201.4	-	36	4318	c.4319C>G	c.(4318-4320)gCg>gGg	p.A1440G	ABCC9_ENST00000261200.4_Missense_Mutation_p.A1440G|ABCC9_ENST00000345162.2_Missense_Mutation_p.A1404G	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1440	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.A1440G(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AGTGACAACCGCATCTAAATC	0.398																																						uc001rfi.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(4318-4320)GCG>GGG		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						96.0	87.0	90.0					12																	21960410		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21960410G>C	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4319C>G	12.37:g.21960410G>C	ENSP00000261201:p.Ala1440Gly					ABCC9_uc001rfh.2_Missense_Mutation_p.A1440G|ABCC9_uc001rfj.1_Missense_Mutation_p.A1404G|ABCC9_uc001rfg.2_5'UTR	p.A1440G	NM_005691	NP_005682	O60706	ABCC9_HUMAN			36	4339	-			1440			Cytoplasmic (Potential).|ABC transporter 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.4319C>G	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.922978	0.73213	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31	5.02	5.02	0.67125	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.055041	0.64402	D	0.000001	D	0.93255	0.7851	N	0.25789	0.76	0.80722	D	1	D;P	0.55800	0.973;0.921	P;P	0.61132	0.884;0.685	D	0.91838	0.5481	10	0.27082	T	0.32	-15.5615	18.5246	0.90967	0.0:0.0:1.0:0.0	.	1440;1440	O60706;O60706-2	ABCC9_HUMAN;.	G	1440;1067;1440;1404	ENSP00000261200:A1440G;ENSP00000440521:A1067G;ENSP00000261201:A1440G;ENSP00000261202:A1404G	ENSP00000261200:A1440G	A	-	2	0	ABCC9	21851677	1.000000	0.71417	0.958000	0.39756	0.982000	0.71751	9.504000	0.97986	2.585000	0.87301	0.561000	0.74099	GCG		PASS	0.398	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		19	49	19	49	---	---	---	---
NELL2	4753	broad.mit.edu	37	12	45105132	45105132	+	Missense_Mutation	SNP	C	C	A	rs142043324		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr12:45105132C>A	ENST00000429094.2	-	11	1636	c.1132G>T	c.(1132-1134)Gat>Tat	p.D378Y	NELL2_ENST00000437801.2_Missense_Mutation_p.D428Y|NELL2_ENST00000395487.2_Missense_Mutation_p.D377Y|NELL2_ENST00000549027.1_Missense_Mutation_p.D377Y|NELL2_ENST00000551601.1_Missense_Mutation_p.D377Y|NELL2_ENST00000333837.4_Missense_Mutation_p.D401Y|NELL2_ENST00000452445.2_Missense_Mutation_p.D378Y	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	378						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.D378Y(1)|p.D428Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TCTGGACAATCCAAAGCTGGA	0.378																																						uc001rog.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(1132-1134)GAT>TAT		NEL-like protein 2 isoform b precursor							128.0	114.0	119.0					12																	45105132		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45105132C>A	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1132G>T	12.37:g.45105132C>A	ENSP00000390680:p.Asp378Tyr					NELL2_uc001rof.3_Missense_Mutation_p.D377Y|NELL2_uc001roh.2_Missense_Mutation_p.D378Y|NELL2_uc009zkd.2_Missense_Mutation_p.D377Y|NELL2_uc010skz.1_Missense_Mutation_p.D428Y|NELL2_uc010sla.1_Missense_Mutation_p.D401Y|NELL2_uc001roi.1_Missense_Mutation_p.D378Y|NELL2_uc010slb.1_Missense_Mutation_p.D377Y|NELL2_uc001roj.2_Missense_Mutation_p.D378Y	p.D378Y	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	11	1727	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	378			VWFC 2.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.1132G>T	CCDS8746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.26|18.26	3.585461|3.585461	0.66105|0.66105	.|.	.|.	ENSG00000184613|ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684|ENST00000550313	T;T;T;T;T;T;T|.	0.64803|.	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12|.	5.79|5.79	3.51|3.51	0.40186|0.40186	.|.	0.197976|.	0.50627|.	D|.	0.000114|.	T|T	0.42381|0.42381	0.1200|0.1200	L|L	0.34521|0.34521	1.04|1.04	0.38930|0.38930	D|D	0.957922|0.957922	P;P;P;P;P;P|.	0.50819|.	0.924;0.939;0.923;0.826;0.874;0.897|.	P;P;P;B;B;P|.	0.54312|.	0.564;0.615;0.748;0.191;0.417;0.492|.	T|T	0.32693|0.32693	-0.9897|-0.9897	10|5	0.66056|.	D|.	0.02|.	-16.2429|-16.2429	4.7175|4.7175	0.12903|0.12903	0.0:0.5179:0.0:0.4821|0.0:0.5179:0.0:0.4821	.|.	401;428;377;378;378;377|.	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2|.	.;.;.;.;NELL2_HUMAN;.|.	Y|C	377;378;377;378;377;401;428;377|121	ENSP00000378866:D377Y;ENSP00000390680:D378Y;ENSP00000449332:D377Y;ENSP00000394612:D378Y;ENSP00000447927:D377Y;ENSP00000327988:D401Y;ENSP00000416341:D428Y|.	ENSP00000327988:D401Y|.	D|W	-|-	1|3	0|0	NELL2|NELL2	43391399|43391399	1.000000|1.000000	0.71417|0.71417	0.937000|0.937000	0.37676|0.37676	0.994000|0.994000	0.84299|0.84299	2.306000|2.306000	0.43673|0.43673	1.278000|1.278000	0.44430|0.44430	0.655000|0.655000	0.94253|0.94253	GAT|TGG		PASS	0.378	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		15	30	15	30	---	---	---	---
PLEKHA8P1	51054	broad.mit.edu	37	12	45567236	45567236	+	RNA	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr12:45567236C>T	ENST00000256692.5	-	0	1449					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)	p.E305K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTTTTCACTTCTGTCAAAAAT	0.483																																						uc001rom.1																			1	Substitution - Missense(1)		lung(1)		0						c.(913-915)GAA>AAA		pleckstrin homology domain containing, family A							88.0	88.0	88.0					12																	45567236		2203	4300	6503			51054							g.chr12:45567236C>T	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567236C>T						PLEKHA9_uc009zke.2_Missense_Mutation_p.E305K	p.E305K	NM_015899	NP_056983				GBM - Glioblastoma multiforme(48;0.173)	3	1450	-	Lung SC(27;0.192)|Renal(347;0.236)								Missense_Mutation	SNP	ENST00000256692.5	37	c.913G>A																																																																																					PASS	0.483	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144		14	82	14	82	---	---	---	---
VDR	7421	broad.mit.edu	37	12	48249571	48249571	+	Silent	SNP	C	C	T	rs565845200		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr12:48249571C>T	ENST00000395324.2	-	7	865	c.597G>A	c.(595-597)tcG>tcA	p.S199S	VDR_ENST00000550325.1_Silent_p.S249S|VDR_ENST00000549336.1_Silent_p.S199S|VDR_ENST00000535672.1_Silent_p.S167S|VDR_ENST00000229022.3_Silent_p.S199S			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	199	Ligand-binding.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S199S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	AGAAGCTGGACGAGTCCATCA	0.547																																						uc001rqm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(595-597)TCG>TCA		vitamin D (1,25-dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						63.0	61.0	62.0					12																	48249571		2203	4300	6503	SO:0001819	synonymous_variant	7421				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48249571C>T	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.597G>A	12.37:g.48249571C>T						VDR_uc001rql.2_Silent_p.S249S|VDR_uc001rqn.2_Silent_p.S199S|VDR_uc010slq.1_Silent_p.S167S	p.S199S	NM_001017535	NP_001017535	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	8	879	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	199			Ligand-binding.		B2R5Q1|G3V1V9|Q5PSV3	Silent	SNP	ENST00000395324.2	37	c.597G>A	CCDS8757.1																																																																																				PASS	0.547	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			4	97	4	97	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49443464	49443464	+	Splice_Site	SNP	C	C	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr12:49443464C>A	ENST00000301067.7	-	11	3906		c.e11+1			NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						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.?(2)									TAGCCCCTCACCTGTTTGATG	0.567																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Unknown(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.e11+1		myeloid/lymphoid or mixed-lineage leukemia 2							23.0	25.0	24.0					12																	49443464		1959	4141	6100	SO:0001630	splice_region_variant	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.chr12:49443464C>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.3906+1G>T	12.37:g.49443464C>A		HNSCC(34;0.089)					p.Q1302_splice	NM_003482	NP_003473	O14686	MLL2_HUMAN			11	3906	-								O14687	Splice_Site	SNP	ENST00000301067.7	37	c.3906_splice	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293876	0.81025	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8499	0.92224	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47729731	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.056000	0.76662	2.736000	0.93811	0.655000	0.94253	.		PASS	0.567	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Intron	29	48	29	48	---	---	---	---
MAP3K12	7786	broad.mit.edu	37	12	53877794	53877794	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr12:53877794C>T	ENST00000267079.2	-	9	1385	c.1160G>A	c.(1159-1161)cGg>cAg	p.R387Q	MAP3K12_ENST00000547488.1_Missense_Mutation_p.R420Q|MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547035.1_Missense_Mutation_p.R420Q	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	387					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.R420Q(1)|p.R387Q(1)|p.R420L(1)|p.R387L(1)		NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TACTTCTTCCCGCCACTCTGC	0.532																																						uc001sdm.1																			4	Substitution - Missense(4)		lung(4)	lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1159-1161)CGG>CAG		mitogen-activated protein kinase kinase kinase							93.0	98.0	96.0					12																	53877794		2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53877794C>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1160G>A	12.37:g.53877794C>T	ENSP00000267079:p.Arg387Gln					MAP3K12_uc001sdn.1_Missense_Mutation_p.R420Q	p.R387Q	NM_006301	NP_006292	Q12852	M3K12_HUMAN			9	1258	-			387					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.1160G>A	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	32	5.177267	0.94846	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.76968	-1.04;-1.06;-1.06	4.45	4.45	0.53987	Protein kinase-like domain (1);	0.000000	0.42821	D	0.000649	T	0.81805	0.4900	M	0.65498	2.005	0.80722	D	1	D;P	0.54772	0.968;0.946	P;P	0.50896	0.653;0.451	D	0.84538	0.0637	10	0.62326	D	0.03	.	16.3851	0.83502	0.0:1.0:0.0:0.0	.	420;387	G3V1Y2;Q12852	.;M3K12_HUMAN	Q	387;420;420	ENSP00000267079:R387Q;ENSP00000449038:R420Q;ENSP00000448689:R420Q	ENSP00000267079:R387Q	R	-	2	0	MAP3K12	52164061	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.426000	0.80270	2.502000	0.84385	0.462000	0.41574	CGG		PASS	0.532	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		16	91	16	91	---	---	---	---
RBMS2	5939	broad.mit.edu	37	12	56975191	56975191	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr12:56975191G>T	ENST00000262031.5	+	7	726	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	RBMS2_ENST00000542360.1_Missense_Mutation_p.D66Y|RBMS2_ENST00000550726.1_Missense_Mutation_p.D86Y|RBMS2_ENST00000552247.2_Missense_Mutation_p.D211Y	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	211	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D211Y(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						AGCCCCATCCGATCCCTTGCT	0.532																																						uc001sln.2																			1	Substitution - Missense(1)		lung(1)		0						c.(631-633)GAT>TAT		RNA binding motif, single stranded interacting							35.0	37.0	36.0					12																	56975191		2203	4300	6503	SO:0001583	missense	5939				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr12:56975191G>T	D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"""RNA binding motif (RRM) containing"""	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.631G>T	12.37:g.56975191G>T	ENSP00000262031:p.Asp211Tyr					RBMS2_uc010sqp.1_Missense_Mutation_p.D66Y|RBMS2_uc010sqq.1_Missense_Mutation_p.D86Y|RBMS2_uc009zou.2_5'UTR	p.D211Y	NM_002898	NP_002889	Q15434	RBMS2_HUMAN			7	830	+			211			RRM 2.			Missense_Mutation	SNP	ENST00000262031.5	37	c.631G>T	CCDS8923.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773084	0.90108	.	.	ENSG00000076067	ENST00000262031;ENST00000552247;ENST00000550726;ENST00000542360	T;T;T	0.73897	2.81;-0.79;-0.79	5.21	5.21	0.72293	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.055266	0.64402	D	0.000001	D	0.82724	0.5099	L	0.48642	1.525	0.80722	D	1	D;B	0.76494	0.999;0.146	D;B	0.72338	0.977;0.05	D	0.84284	0.0496	10	0.87932	D	0	.	17.9318	0.88999	0.0:0.0:1.0:0.0	.	66;211	F5H5C8;Q15434	.;RBMS2_HUMAN	Y	211;211;86;66	ENSP00000262031:D211Y;ENSP00000447426:D211Y;ENSP00000449678:D86Y	ENSP00000262031:D211Y	D	+	1	0	RBMS2	55261458	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	9.150000	0.94667	2.605000	0.88082	0.655000	0.94253	GAT		PASS	0.532	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409366.2	NM_002898		17	32	17	32	---	---	---	---
PTPRR	5801	broad.mit.edu	37	12	71029760	71029760	+	IGR	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr12:71029760G>A	ENST00000283228.2	-	0	3529				PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000334414.6_Nonsense_Mutation_p.Q48*|PTPRR_ENST00000537619.2_5'Flank|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.Q47*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.Q48*	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Q48*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TGCTGGTTCTGGATGGTCCTG	0.493																																						uc001swc.3																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|skin(1)	3						c.(142-144)CAG>TAG		protein tyrosine phosphatase, receptor type, B							88.0	85.0	86.0					12																	71029760		2015	4166	6181	SO:0001628	intergenic_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71029760G>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502		12.37:g.71029760G>A						PTPRB_uc001swa.3_Nonsense_Mutation_p.Q48*|PTPRB_uc001swd.3_Nonsense_Mutation_p.Q47*|PTPRB_uc009zrr.1_Nonsense_Mutation_p.Q48*|PTPRB_uc001swe.2_Nonsense_Mutation_p.Q48*	p.Q48*	NM_001109754	NP_001103224	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)		2	186	-	Renal(347;0.236)		Error:Variant_position_missing_in_P23467_after_alignment					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Nonsense_Mutation	SNP	ENST00000283228.2	37	c.142C>T	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	G	37	6.046872	0.97231	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000551525;ENST00000548122	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	16.1208	0.81357	0.0:0.0:0.8658:0.1342	.	.	.	.	X	48;48;48;47;48	.	ENSP00000334928:Q48X	Q	-	1	0	PTPRB	69316027	1.000000	0.71417	0.992000	0.48379	0.915000	0.54546	3.390000	0.52523	2.873000	0.98535	0.563000	0.77884	CAG		PASS	0.493	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		7	17	7	17	---	---	---	---
ATP2B1	490	broad.mit.edu	37	12	90028892	90028892	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr12:90028892A>T	ENST00000428670.3	-	4	999	c.543T>A	c.(541-543)ttT>ttA	p.F181L	ATP2B1_ENST00000261173.2_Missense_Mutation_p.F181L|ATP2B1_ENST00000348959.3_Missense_Mutation_p.F181L|ATP2B1_ENST00000359142.3_Missense_Mutation_p.F181L			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	181					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.F181L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GCAAACCTCTAAACTGTTTTT	0.433																																						uc001tbh.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(541-543)TTT>TTA		plasma membrane calcium ATPase 1 isoform 1b							134.0	112.0	119.0					12																	90028892		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90028892A>T	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.543T>A	12.37:g.90028892A>T	ENSP00000392043:p.Phe181Leu					ATP2B1_uc001tbg.2_Missense_Mutation_p.F181L	p.F181L	NM_001682	NP_001673	P20020	AT2B1_HUMAN			3	724	-			181			Cytoplasmic (Potential).		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.543T>A	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.464550	0.84425	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670	D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52	5.68	-1.9	0.07665	.	0.000000	0.85682	D	0.000000	D	0.89497	0.6732	L	0.45228	1.405	0.58432	D	0.999996	D;D	0.76494	0.99;0.999	D;D	0.75020	0.979;0.985	D	0.85598	0.1250	9	.	.	.	-8.283	11.539	0.50655	0.4541:0.0:0.5459:0.0	.	181;181	P20020-3;P20020-2	.;.	L	181	ENSP00000261173:F181L;ENSP00000343599:F181L;ENSP00000352054:F181L;ENSP00000392043:F181L	.	F	-	3	2	ATP2B1	88553023	0.953000	0.32496	0.989000	0.46669	0.995000	0.86356	0.183000	0.16919	-0.251000	0.09542	-0.256000	0.11100	TTT		PASS	0.433	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		24	42	24	42	---	---	---	---
VEZT	55591	broad.mit.edu	37	12	95668571	95668571	+	Missense_Mutation	SNP	C	C	A	rs35356495		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr12:95668571C>A	ENST00000436874.1	+	7	1007	c.902C>A	c.(901-903)cCt>cAt	p.P301H	VEZT_ENST00000356859.4_3'UTR|Y_RNA_ENST00000365600.1_RNA|VEZT_ENST00000261219.6_Missense_Mutation_p.P253H	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	301					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)		p.P301H(2)		endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TGTGTGGTGCCTTTTAAAGAG	0.428																																						uc001tdz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(901-903)CCT>CAT		vezatin, adherens junctions transmembrane							134.0	128.0	130.0					12																	95668571		1892	4106	5998	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95668571C>A	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.902C>A	12.37:g.95668571C>A	ENSP00000410083:p.Pro301His					VEZT_uc009ztb.1_RNA|VEZT_uc009ztc.1_5'UTR|VEZT_uc001tdy.2_RNA	p.P301H	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN			7	1007	+			301					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.902C>A	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913733	0.92178	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.47177	0.85;0.85;0.85	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.69242	0.3089	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71111	-0.4687	10	0.72032	D	0.01	-28.5976	19.4537	0.94878	0.0:1.0:0.0:0.0	.	301	Q9HBM0	VEZA_HUMAN	H	301;253;257;301	ENSP00000410083:P301H;ENSP00000261219:P253H;ENSP00000380894:P257H	ENSP00000261219:P253H	P	+	2	0	VEZT	94192702	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.478000	0.81082	2.598000	0.87819	0.591000	0.81541	CCT		PASS	0.428	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		6	79	6	79	---	---	---	---
CFAP54	144535	broad.mit.edu	37	12	97052002	97052002	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr12:97052002G>A	ENST00000524981.4	+	38	5361	c.5338G>A	c.(5338-5340)Gaa>Aaa	p.E1780K				Q96N23	CL055_HUMAN		0								p.E205K(1)									GAGGTATACAGAACAAGTGAC	0.378																																						uc001tet.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)	7						c.(613-615)GAA>AAA		hypothetical protein LOC374467							99.0	99.0	99.0					12																	97052002		2203	4300	6503	SO:0001583	missense	374467							g.chr12:97052002G>A																												ENST00000524981.4:c.5338G>A	12.37:g.97052002G>A	ENSP00000431759:p.Glu1780Lys						p.E205K	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			5	691	+			205						Missense_Mutation	SNP	ENST00000524981.4	37	c.613G>A		.	.	.	.	.	.	.	.	.	.	G	25.4	4.631680	0.87660	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.19	5.19	0.71726	.	0.100376	0.42964	D	0.000632	T	0.78220	0.4249	M	0.66939	2.045	0.39905	D	0.973958	D	0.76494	0.999	D	0.71656	0.974	T	0.80768	-0.1235	9	0.66056	D	0.02	-17.9383	19.071	0.93136	0.0:0.0:1.0:0.0	.	205	Q6ZTY8	CL063_HUMAN	K	1780;205	.	ENSP00000345466:E205K	E	+	1	0	C12orf63	95576133	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.660000	0.74417	2.581000	0.87130	0.462000	0.41574	GAA		PASS	0.378	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			10	79	10	79	---	---	---	---
FOXN4	121643	broad.mit.edu	37	12	109717646	109717646	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr12:109717646C>A	ENST00000299162.5	-	10	1488	c.1384G>T	c.(1384-1386)Gcc>Tcc	p.A462S	FOXN4_ENST00000355216.1_Missense_Mutation_p.A282S	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	462					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A462S(1)|p.A282S(1)		large_intestine(5)|lung(9)|ovary(2)	16						AGGCCTGAGGCCCCCAGGTCA	0.612																																						uc001toe.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(1384-1386)GCC>TCC		forkhead box N4							61.0	52.0	55.0					12																	109717646		2203	4300	6503	SO:0001583	missense	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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 activator activity|transcription factor binding	g.chr12:109717646C>A	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"""Forkhead boxes"""	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.1384G>T	12.37:g.109717646C>A	ENSP00000299162:p.Ala462Ser					FOXN4_uc009zvg.2_Missense_Mutation_p.A259S|FOXN4_uc001tof.3_Missense_Mutation_p.A282S	p.A462S	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN			10	1489	-			462					Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	c.1384G>T	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	C	10.42	1.346613	0.24426	.	.	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.94613	-3.47;-3.06	5.02	0.943	0.19531	.	0.566887	0.18127	N	0.150846	D	0.87184	0.6114	L	0.38838	1.175	0.09310	N	1	B;B	0.24368	0.059;0.102	B;B	0.17433	0.018;0.012	T	0.72418	-0.4300	10	0.16420	T	0.52	-11.7501	4.7534	0.13071	0.0:0.4063:0.281:0.3127	.	462;462	A6H901;Q96NZ1	.;FOXN4_HUMAN	S	282;462	ENSP00000347354:A282S;ENSP00000299162:A462S	ENSP00000299162:A462S	A	-	1	0	FOXN4	108202029	0.047000	0.20315	0.256000	0.24389	0.578000	0.36192	0.256000	0.18351	-0.029000	0.13827	0.561000	0.74099	GCC		PASS	0.612	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		23	19	23	19	---	---	---	---
SDSL	113675	broad.mit.edu	37	12	113866227	113866227	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr12:113866227G>A	ENST00000403593.4	+	3	439	c.177G>A	c.(175-177)atG>atA	p.M59I	SDSL_ENST00000345635.4_Missense_Mutation_p.M59I			Q96GA7	SDSL_HUMAN	serine dehydratase-like	59					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)	p.M59I(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						CTTCCCAGATGGCCAAGAAGG	0.557																																						uc001tvi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)ATG>ATA		serine dehydratase-like	Pyridoxal Phosphate(DB00114)						115.0	86.0	96.0					12																	113866227		2203	4300	6503	SO:0001583	missense	113675				cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	g.chr12:113866227G>A	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.177G>A	12.37:g.113866227G>A	ENSP00000385790:p.Met59Ile					SDSL_uc009zwh.2_Missense_Mutation_p.M59I	p.M59I	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN			4	387	+			59						Missense_Mutation	SNP	ENST00000403593.4	37	c.177G>A	CCDS9170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.456585|5.456585	0.96223|0.96223	.|.	.|.	ENSG00000139410|ENSG00000139410	ENST00000546672|ENST00000403593;ENST00000553248;ENST00000345635	.|D;D	.|0.96459	.|-4.02;-4.02	4.67|4.67	4.67|4.67	0.58626|0.58626	.|Pyridoxal phosphate-dependent enzyme, beta subunit (2);	.|0.466331	.|0.23033	.|N	.|0.052704	D|D	0.93099|0.93099	0.7803|0.7803	L|L	0.40543|0.40543	1.245|1.245	0.38115|0.38115	D|D	0.937694|0.937694	.|B	.|0.10296	.|0.003	.|B	.|0.12156	.|0.007	D|D	0.91507|0.91507	0.5224|0.5224	5|10	.|0.62326	.|D	.|0.03	-10.9833|-10.9833	10.9537|10.9537	0.47345|0.47345	0.0:0.0:0.6773:0.3227|0.0:0.0:0.6773:0.3227	.|.	.|59	.|Q96GA7	.|SDSL_HUMAN	S|I	2|59;1;59	.|ENSP00000385790:M59I;ENSP00000341117:M59I	.|ENSP00000341117:M59I	G|M	+|+	1|3	0|0	SDSL|SDSL	112350610|112350610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.947000|1.947000	0.40293|0.40293	2.166000|2.166000	0.68216|0.68216	0.561000|0.561000	0.74099|0.74099	GGC|ATG		PASS	0.557	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432		12	24	12	24	---	---	---	---
VPS33A	65082	broad.mit.edu	37	12	122724483	122724483	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr12:122724483T>A	ENST00000267199.4	-	9	1218	c.1106A>T	c.(1105-1107)gAc>gTc	p.D369V	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.D330V	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	369					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)		p.D369V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		ATCAAAAAAGTCTTCAGAAGC	0.318																																						uc001ucd.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1105-1107)GAC>GTC		vacuolar protein sorting 33A							67.0	68.0	68.0					12																	122724483		2202	4299	6501	SO:0001583	missense	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122724483T>A	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.1106A>T	12.37:g.122724483T>A	ENSP00000267199:p.Asp369Val					VPS33A_uc001ucc.2_RNA	p.D369V	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	9	1219	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		369					Q547V4|Q9H5Q0	Missense_Mutation	SNP	ENST00000267199.4	37	c.1106A>T	CCDS9231.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.355479	0.24598	.	.	ENSG00000139719	ENST00000267199	T	0.32515	1.45	5.93	5.93	0.95920	.	0.097077	0.64402	D	0.000001	T	0.27027	0.0662	L	0.42581	1.335	0.80722	D	1	B	0.12630	0.006	B	0.14023	0.01	T	0.04708	-1.0932	10	0.30078	T	0.28	-46.9074	12.2529	0.54608	0.0:0.0:0.1416:0.8584	.	369	Q96AX1	VP33A_HUMAN	V	369	ENSP00000267199:D369V	ENSP00000446319:D330V	D	-	2	0	VPS33A	121290436	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	3.447000	0.52936	2.263000	0.75096	0.533000	0.62120	GAC		PASS	0.318	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			21	41	21	41	---	---	---	---
CCDC70	83446	broad.mit.edu	37	13	52440012	52440012	+	Silent	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr13:52440012G>A	ENST00000242819.4	+	2	794	c.498G>A	c.(496-498)gaG>gaA	p.E166E		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	166						extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.E166E(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		TGTGGGTAGAGGAAAGAGCCC	0.557																																						uc001vfu.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(496-498)GAG>GAA		coiled-coil domain containing 70 precursor							97.0	102.0	101.0					13																	52440012		2203	4300	6503	SO:0001819	synonymous_variant	83446					extracellular region|plasma membrane		g.chr13:52440012G>A		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.498G>A	13.37:g.52440012G>A						uc010tgr.1_RNA	p.E166E	NM_031290	NP_112580	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	794	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	166					Q8N7A8|Q9H097	Silent	SNP	ENST00000242819.4	37	c.498G>A	CCDS9431.1																																																																																				PASS	0.557	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		77	54	77	54	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77900796	77900796	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr13:77900796T>A	ENST00000407578.2	-	1	381	c.115A>T	c.(115-117)Atg>Ttg	p.M39L	MYCBP2_ENST00000544440.2_Start_Codon_SNP_p.M1L|MYCBP2_ENST00000357337.6_Start_Codon_SNP_p.M1L|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4			MYC binding protein 2, E3 ubiquitin protein ligase									p.M1L(2)|p.M39L(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGAACCGGCATGAACAGCGCC	0.756																																						uc001vkf.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(1-3)ATG>TTG		MYC binding protein 2							3.0	5.0	4.0					13																	77900796		1892	3735	5627	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77900796T>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000407578.2:c.115A>T	13.37:g.77900796T>A	ENSP00000384288:p.Met39Leu					MYCBP2_uc010aev.2_5'UTR	p.M1L	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	2	92	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1						Missense_Mutation	SNP	ENST00000407578.2	37	c.1A>T		.	.	.	.	.	.	.	.	.	.	T	16.56	3.156942	0.57259	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.24350	1.86;1.89;1.86	3.81	3.81	0.43845	.	0.316659	0.30547	N	0.009385	T	0.16769	0.0403	.	.	.	0.25304	N	0.989252	B	0.02656	0.0	B	0.01281	0.0	T	0.10683	-1.0619	9	0.46703	T	0.11	.	7.0534	0.25085	0.0:0.1069:0.0:0.8931	.	1	O75592	MYCB2_HUMAN	L	1;39;1	ENSP00000349892:M1L;ENSP00000384288:M39L;ENSP00000444596:M1L	ENSP00000349892:M1L	M	-	1	0	MYCBP2	76798797	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.483000	0.45233	1.722000	0.51474	0.460000	0.39030	ATG		PASS	0.756	MYCBP2-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015057		4	0	4	0	---	---	---	---
GPR18	2841	broad.mit.edu	37	13	99908124	99908124	+	Start_Codon_SNP	SNP	C	C	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr13:99908124C>G	ENST00000340807.3	-	3	559	c.3G>C	c.(1-3)atG>atC	p.M1I	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397473.2_Start_Codon_SNP_p.M1I|GPR18_ENST00000397470.2_Start_Codon_SNP_p.M1I			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	1					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.M1I(1)		endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TCAGGGTGATCATTTTACAGC	0.323																																						uc001voe.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>ATC		G protein-coupled receptor 18	Glycine(DB00145)						127.0	122.0	124.0					13																	99908124		2203	4300	6503	SO:0001582	initiator_codon_variant	2841					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99908124C>G	L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"""GPCR / Class A : Orphans"""	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.3G>C	13.37:g.99908124C>G	ENSP00000343428:p.Met1Ile					UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|GPR18_uc010afv.2_Missense_Mutation_p.M1I	p.M1I	NM_005292	NP_005283	Q14330	GPR18_HUMAN			3	504	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1			Extracellular (Potential).		Q6GTM3|Q96HI6|Q9H2L2	Missense_Mutation	SNP	ENST00000340807.3	37	c.3G>C	CCDS9491.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.617189	0.28801	.	.	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807;ENST00000416594	T;T;T;T	0.62498	0.02;0.02;0.02;1.42	5.47	5.47	0.80525	.	0.376195	0.27744	N	0.018036	T	0.45155	0.1328	.	.	.	0.80722	D	1	B	0.30914	0.3	B	0.26094	0.066	T	0.38478	-0.9659	8	.	.	.	-30.1317	8.857	0.35234	0.0:0.8681:0.0:0.1319	.	1	Q14330	GPR18_HUMAN	I	1	ENSP00000380613:M1I;ENSP00000380610:M1I;ENSP00000343428:M1I;ENSP00000401611:M1I	.	M	-	3	0	GPR18	98706125	0.987000	0.35691	0.995000	0.50966	0.554000	0.35429	2.131000	0.42074	2.558000	0.86282	0.563000	0.77884	ATG		PASS	0.323	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045585.1		Missense_Mutation	16	63	16	63	---	---	---	---
LIG4	3981	broad.mit.edu	37	13	108862405	108862405	+	Silent	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr13:108862405C>T	ENST00000356922.4	-	2	1484	c.1212G>A	c.(1210-1212)caG>caA	p.Q404Q	LIG4_ENST00000442234.1_Silent_p.Q404Q|LIG4_ENST00000405925.1_Silent_p.Q404Q	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	404					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.Q404Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CTTGTGTTTTCTGCACTATTT	0.333								Non-homologous end-joining																														uc001vqn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1210-1212)CAG>CAA	NHEJ	DNA ligase IV							103.0	107.0	106.0					13																	108862405		2203	4298	6501	SO:0001819	synonymous_variant	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108862405C>T	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1212G>A	13.37:g.108862405C>T						LIG4_uc001vqo.2_Silent_p.Q404Q|LIG4_uc010agg.1_Silent_p.Q337Q|LIG4_uc010agf.2_Silent_p.Q404Q|LIG4_uc001vqp.2_Silent_p.Q404Q	p.Q404Q	NM_002312	NP_002303	P49917	DNLI4_HUMAN			2	1485	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		404					Q8IY66|Q8TEU5	Silent	SNP	ENST00000356922.4	37	c.1212G>A	CCDS9508.1																																																																																				PASS	0.333	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		10	74	10	74	---	---	---	---
COL4A2	1284	broad.mit.edu	37	13	111125434	111125434	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr13:111125434G>T	ENST00000360467.5	+	29	2668	c.2362G>T	c.(2362-2364)Ggt>Tgt	p.G788C		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	788	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.G788C(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGAGATGCTGGTGTGCCTGG	0.701																																						uc001vqx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.(2362-2364)GGT>TGT		alpha 2 type IV collagen preproprotein							11.0	14.0	13.0					13																	111125434		1923	4102	6025	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111125434G>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2362G>T	13.37:g.111125434G>T	ENSP00000353654:p.Gly788Cys						p.G788C	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		29	2651	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	788			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.2362G>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.314946	0.60524	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99369	-5.78	5.06	5.06	0.68205	.	0.000000	0.50627	D	0.000111	D	0.99750	0.9900	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96799	0.9588	10	0.87932	D	0	.	18.3725	0.90412	0.0:0.0:1.0:0.0	.	788	P08572	CO4A2_HUMAN	C	788	ENSP00000353654:G788C	ENSP00000257309:G788C	G	+	1	0	COL4A2	109923435	1.000000	0.71417	0.954000	0.39281	0.460000	0.32559	6.622000	0.74233	2.511000	0.84671	0.557000	0.71058	GGT		PASS	0.701	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		7	6	7	6	---	---	---	---
OR4K15	81127	broad.mit.edu	37	14	20443879	20443879	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr14:20443879C>G	ENST00000305051.5	+	1	277	c.202C>G	c.(202-204)Ctc>Gtc	p.L68V		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L68V(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGGCAACTTTCTCATCATCCT	0.433																																						uc010tkx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(202-204)CTC>GTC		olfactory receptor, family 4, subfamily K,							91.0	106.0	101.0					14																	20443879		2203	4298	6501	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20443879C>G		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.202C>G	14.37:g.20443879C>G	ENSP00000304077:p.Leu68Val						p.L68V	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	202	+	all_cancers(95;0.00108)		68			Helical; Name=1; (Potential).		B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.202C>G	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	13.10	2.137182	0.37728	.	.	ENSG00000169488	ENST00000305051	T	0.02656	4.21	3.55	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000350	T	0.05364	0.0142	L	0.42529	1.33	0.20563	N	0.999889	D	0.56968	0.978	P	0.52672	0.706	T	0.22977	-1.0201	10	0.54805	T	0.06	.	9.6484	0.39881	0.3699:0.6301:0.0:0.0	.	68	Q8NH41	OR4KF_HUMAN	V	68	ENSP00000304077:L68V	ENSP00000304077:L68V	L	+	1	0	OR4K15	19513719	0.000000	0.05858	0.983000	0.44433	0.952000	0.60782	-3.049000	0.00629	0.662000	0.31006	0.467000	0.42956	CTC		PASS	0.433	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			23	61	23	61	---	---	---	---
IRF9	10379	broad.mit.edu	37	14	24633866	24633866	+	Silent	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr14:24633866G>A	ENST00000396864.3	+	7	980	c.693G>A	c.(691-693)gtG>gtA	p.V231V	IRF9_ENST00000557894.1_Silent_p.V129V|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	231					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V231V(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GGCGCGTGGTGGGCGAGGCCC	0.637																																						uc001wmq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(691-693)GTG>GTA		interferon-stimulated transcription factor 3,							85.0	87.0	86.0					14																	24633866		2203	4300	6503	SO:0001819	synonymous_variant	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24633866G>A	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.693G>A	14.37:g.24633866G>A						RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_Intron	p.V231V	NM_006084	NP_006075	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	7	820	+			231					D3DS61	Silent	SNP	ENST00000396864.3	37	c.693G>A	CCDS9615.1																																																																																				PASS	0.637	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			47	161	47	161	---	---	---	---
TM9SF1	10548	broad.mit.edu	37	14	24662104	24662104	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr14:24662104G>C	ENST00000261789.4	-	3	1075	c.717C>G	c.(715-717)atC>atG	p.I239M	TM9SF1_ENST00000530611.1_Missense_Mutation_p.I448M|TM9SF1_ENST00000528669.1_Missense_Mutation_p.I239M|RP11-468E2.2_ENST00000561419.1_5'Flank|TM9SF1_ENST00000556387.1_Missense_Mutation_p.I448M|TM9SF1_ENST00000524835.1_Missense_Mutation_p.I152M|TM9SF1_ENST00000396854.4_Missense_Mutation_p.I239M	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	239					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.I239M(1)		NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		TGGAGTTGATGATGGACAACC	0.512																																						uc001wnb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(715-717)ATC>ATG		transmembrane 9 superfamily member 1 isoform a							121.0	106.0	111.0					14																	24662104		2203	4300	6503	SO:0001583	missense	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24662104G>C	U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.717C>G	14.37:g.24662104G>C	ENSP00000261789:p.Ile239Met					IPO4_uc001wmz.1_5'Flank|TM9SF1_uc010toa.1_Missense_Mutation_p.I152M|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Missense_Mutation_p.I474M|TM9SF1_uc001wnc.2_Missense_Mutation_p.I239M|TM9SF1_uc001wnd.2_Missense_Mutation_p.I95M	p.I239M	NM_006405	NP_006396	O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	3	1065	-			239			Helical; (Potential).		D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	ENST00000261789.4	37	c.717C>G	CCDS9617.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976070	0.53720	.	.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000396854;ENST00000528895;ENST00000530563;ENST00000530468;ENST00000525592;ENST00000530611	T;T;T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.1	2.1	0.27182	.	0.053817	0.64402	D	0.000001	T	0.75729	0.3889	H	0.96604	3.85	0.49582	D	0.999808	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.993	T	0.73132	-0.4079	10	0.87932	D	0	-14.5467	3.0741	0.06241	0.3064:0.0:0.5019:0.1917	.	239;239;239	E9PJM1;Q86SZ6;O15321	.;.;TM9S1_HUMAN	M	239;239;448;152;239;239;152;239;239;448	ENSP00000261789:I239M;ENSP00000432997:I239M;ENSP00000451949:I448M;ENSP00000434387:I152M;ENSP00000380063:I239M;ENSP00000431447:I239M;ENSP00000437127:I152M;ENSP00000435857:I239M;ENSP00000432435:I239M;ENSP00000433967:I448M	ENSP00000433967:I448M	I	-	3	3	TM9SF1;RP11-468E2.1	23731944	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.339000	0.43965	0.743000	0.32719	0.655000	0.94253	ATC		PASS	0.512	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405		12	33	12	33	---	---	---	---
PLEKHG3	26030	broad.mit.edu	37	14	65203596	65203596	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr14:65203596A>T	ENST00000394691.1	+	13	1518	c.1371A>T	c.(1369-1371)caA>caT	p.Q457H	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.Q401H|PLEKHG3_ENST00000484731.2_5'Flank|PLEKHG3_ENST00000471182.2_5'Flank			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	457				QGRRQSEPTKHLLRQLNEKARAAGMK -> KGAGPEPPGSE EEEEEQEESLAVAEQ (in Ref. 2; AAH04298). {ECO:0000305}.			Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q401H(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TGCTCAGGCAACTCAACGAGA	0.617																																						uc001xho.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1369-1371)CAA>CAT		pleckstrin homology domain containing, family G,							57.0	53.0	54.0					14																	65203596		2203	4300	6503	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65203596A>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1371A>T	14.37:g.65203596A>T	ENSP00000378183:p.Gln457His					PLEKHG3_uc001xhn.1_Missense_Mutation_p.Q401H|PLEKHG3_uc001xhp.2_Missense_Mutation_p.Q457H|PLEKHG3_uc010aqh.1_5'UTR|PLEKHG3_uc001xhq.1_5'Flank	p.Q457H	NM_015549	NP_056364	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	13	1640	+			457	QGRRQSEPTKHLLRQLNEKARAAGMK -> KGAGPEPPGSE EEEEEQEESLAVAEQ (in Ref. 2; AAH04298).				A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.1371A>T		.	.	.	.	.	.	.	.	.	.	A	13.30	2.196974	0.38806	.	.	ENSG00000126822	ENST00000247226;ENST00000394691	T;T	0.57907	0.37;0.37	5.18	-8.46	0.00942	.	0.387232	0.23431	N	0.048260	T	0.60077	0.2241	M	0.73598	2.24	0.49299	D	0.999774	D;D	0.64830	0.989;0.994	D;D	0.74023	0.959;0.982	T	0.76225	-0.3037	10	0.15066	T	0.55	.	12.9532	0.58413	0.2597:0.1063:0.634:0.0	.	457;401	A1L390;A1L390-3	PKHG3_HUMAN;.	H	401;457	ENSP00000247226:Q401H;ENSP00000378183:Q457H	ENSP00000247226:Q401H	Q	+	3	2	PLEKHG3	64273349	0.008000	0.16893	0.005000	0.12908	0.129000	0.20672	-1.213000	0.02991	-1.678000	0.01454	-0.313000	0.08912	CAA		PASS	0.617	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		9	34	9	34	---	---	---	---
PLEKHH1	57475	broad.mit.edu	37	14	68042598	68042598	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr14:68042598G>T	ENST00000329153.5	+	16	2360	c.2228G>T	c.(2227-2229)tGt>tTt	p.C743F	PLEKHH1_ENST00000417684.2_5'Flank	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	743	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoskeleton (GO:0005856)		p.C743F(1)|p.C782F(1)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GATCGATCCTGTGACTCAGAC	0.607																																						uc001xjl.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2227-2229)TGT>TTT		pleckstrin homology domain containing, family H							61.0	67.0	65.0					14																	68042598		2077	4199	6276	SO:0001583	missense	57475					cytoskeleton	binding	g.chr14:68042598G>T	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.2228G>T	14.37:g.68042598G>T	ENSP00000330278:p.Cys743Phe					PLEKHH1_uc010tsw.1_Missense_Mutation_p.C311F|PLEKHH1_uc001xjn.1_Missense_Mutation_p.C258F|PLEKHH1_uc010tsx.1_5'Flank	p.C743F	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	16	2370	+			743			PH 2.		A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	c.2228G>T	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996493	0.93167	.	.	ENSG00000054690	ENST00000329153	T	0.72282	-0.64	4.85	4.85	0.62838	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.046804	0.85682	D	0.000000	T	0.68833	0.3044	M	0.63428	1.95	0.80722	D	1	P	0.47545	0.897	B	0.38921	0.285	T	0.76340	-0.2995	10	0.72032	D	0.01	-3.5539	18.5135	0.90926	0.0:0.0:1.0:0.0	.	743	Q9ULM0	PKHH1_HUMAN	F	743	ENSP00000330278:C743F	ENSP00000330278:C743F	C	+	2	0	PLEKHH1	67112351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.587000	0.98229	2.664000	0.90586	0.643000	0.83706	TGT		PASS	0.607	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		13	32	13	32	---	---	---	---
PAPLN	89932	broad.mit.edu	37	14	73739301	73739301	+	Missense_Mutation	SNP	G	G	A	rs370302251		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr14:73739301G>A	ENST00000554301.1	+	26	3929	c.3766G>A	c.(3766-3768)Gag>Aag	p.E1256K	PAPLN_ENST00000555445.1_Missense_Mutation_p.E1240K|PAPLN_ENST00000427855.1_Missense_Mutation_p.E1256K|PAPLN_ENST00000340738.5_Missense_Mutation_p.E1229K|PAPLN_ENST00000381166.3_3'UTR|RP4-647C14.3_ENST00000556578.1_RNA			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1256	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.E1229K(1)|p.E1256K(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TTGTGGCAATGAGTATTACTC	0.602																																						uc010ttx.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3766-3768)GAG>AAG		papilin		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	121.0	116.0	117.0		3685	5.5	1.0	14		117	0,8600		0,0,4300	no	missense	PAPLN	NM_173462.3	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1229/1252	73739301	1,13005	2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73739301G>A	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.3766G>A	14.37:g.73739301G>A	ENSP00000451803:p.Glu1256Lys					PAPLN_uc001xnw.3_Missense_Mutation_p.E1229K|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.E1240K|PAPLN_uc010arm.2_Missense_Mutation_p.E455K|PAPLN_uc010arn.2_3'UTR	p.E1256K	NM_173462	NP_775733	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	26	3929	+			1256			PLAC.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.3766G>A		.	.	.	.	.	.	.	.	.	.	G	25.1	4.607177	0.87157	2.27E-4	0.0	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000554301;ENST00000555445	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.54	5.54	0.83059	PLAC (2);	.	.	.	.	T	0.42653	0.1212	N	0.11201	0.11	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.99;0.99	D;D;P;P	0.74348	0.971;0.983;0.881;0.894	T	0.40794	-0.9544	9	0.33141	T	0.24	.	19.6787	0.95950	0.0:0.0:1.0:0.0	.	1240;1256;455;1229	O95428-5;O95428;O95428-2;O95428-6	.;PPN_HUMAN;.;.	K	1229;1256;1256;1240	ENSP00000345395:E1229K;ENSP00000403403:E1256K;ENSP00000451803:E1256K;ENSP00000451729:E1240K	ENSP00000345395:E1229K	E	+	1	0	PAPLN	72809054	0.999000	0.42202	1.000000	0.80357	0.943000	0.58893	3.897000	0.56273	2.884000	0.98904	0.655000	0.94253	GAG		PASS	0.602	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		97	110	97	110	---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86088141	86088141	+	Silent	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr14:86088141C>T	ENST00000330753.4	+	2	1050	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	FLRT2_ENST00000554746.1_Silent_p.L95L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	95					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.L95L(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CACGGTCTACCTGTATGGCAA	0.478																																						uc001xvr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(283-285)CTG>TTG		fibronectin leucine rich transmembrane protein 2							128.0	117.0	121.0					14																	86088141		2203	4300	6503	SO:0001819	synonymous_variant	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088141C>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.283C>T	14.37:g.86088141C>T						FLRT2_uc010atd.2_Silent_p.L95L	p.L95L	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1050	+			95			Extracellular (Potential).|LRR 2.		A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	c.283C>T	CCDS9877.1																																																																																				PASS	0.478	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			28	102	28	102	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96772007	96772007	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr14:96772007T>G	ENST00000359933.4	-	31	5545	c.4652A>C	c.(4651-4653)aAg>aCg	p.K1551T	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1551					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.K1551T(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGAGACCTCCTTCACCACATA	0.408																																						uc001yfi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(4651-4653)AAG>ACG		ATG2 autophagy related 2 homolog B							100.0	92.0	95.0					14																	96772007		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96772007T>G	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4652A>C	14.37:g.96772007T>G	ENSP00000353010:p.Lys1551Thr						p.K1551T	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	31	5017	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1551					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.4652A>C	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	T	26.2	4.710897	0.89112	.	.	ENSG00000066739	ENST00000359933	T	0.52983	0.64	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.64057	0.2564	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	P	0.59761	0.863	T	0.65125	-0.6244	10	0.42905	T	0.14	.	15.7003	0.77536	0.0:0.0:0.0:1.0	.	1551	Q96BY7	ATG2B_HUMAN	T	1551	ENSP00000353010:K1551T	ENSP00000261834:K195T	K	-	2	0	ATG2B	95841760	1.000000	0.71417	0.995000	0.50966	0.808000	0.45660	3.736000	0.55052	2.106000	0.64143	0.482000	0.46254	AAG		PASS	0.408	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		15	47	15	47	---	---	---	---
INF2	64423	broad.mit.edu	37	14	105167956	105167956	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr14:105167956C>T	ENST00000392634.4	+	2	366	c.254C>T	c.(253-255)tCg>tTg	p.S85L	INF2_ENST00000398337.4_Missense_Mutation_p.S85L|INF2_ENST00000330634.7_Missense_Mutation_p.S85L	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	85	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.S85L(3)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GCGCGGCTGTCGGGCCGCGGC	0.706																																						uc001ypb.2																			3	Substitution - Missense(3)		lung(3)		0						c.(253-255)TCG>TTG		inverted formin 2 isoform 1							10.0	14.0	13.0					14																	105167956		2047	4158	6205	SO:0001583	missense	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105167956C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.254C>T	14.37:g.105167956C>T	ENSP00000376410:p.Ser85Leu					INF2_uc010tyi.1_Missense_Mutation_p.S85L|INF2_uc001ypc.2_Missense_Mutation_p.S85L|INF2_uc001yoy.3_Missense_Mutation_p.S85L|INF2_uc001ypa.2_Missense_Mutation_p.S85L	p.S85L	NM_022489	NP_071934	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	2	397	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	85			GBD/FH3.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	c.254C>T	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	C	33	5.228497	0.95173	.	.	ENSG00000203485	ENST00000330634;ENST00000398337;ENST00000392634	D;D;D	0.89270	-2.49;-2.49;-2.49	4.76	4.76	0.60689	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.582086	0.14205	N	0.334447	D	0.94198	0.8138	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93764	0.7069	10	0.54805	T	0.06	.	17.7619	0.88467	0.0:1.0:0.0:0.0	.	85;85	Q27J81-2;Q27J81	.;INF2_HUMAN	L	85	ENSP00000376406:S85L;ENSP00000381380:S85L;ENSP00000376410:S85L	ENSP00000252520:S85L	S	+	2	0	INF2	104239001	1.000000	0.71417	0.994000	0.49952	0.692000	0.40212	7.592000	0.82676	2.191000	0.70037	0.313000	0.20887	TCG		PASS	0.706	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		11	17	11	17	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25959015	25959015	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr15:25959015C>T	ENST00000356865.6	-	10	2261	c.2150G>A	c.(2149-2151)cGg>cAg	p.R717Q		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	717					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R717Q(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GTCGTGCAGCCGCTCCACAAG	0.637																																						uc010ayu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(2149-2151)CGG>CAG		ATPase, class V, type 10A							65.0	60.0	62.0					15																	25959015		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25959015C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2150G>A	15.37:g.25959015C>T	ENSP00000349325:p.Arg717Gln						p.R717Q	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	2256	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	717			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2150G>A	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380153	0.61845	.	.	ENSG00000206190	ENST00000356865	T	0.72505	-0.66	4.5	3.56	0.40772	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.054939	0.64402	N	0.000002	D	0.85767	0.5773	M	0.89163	3.01	0.48830	D	0.999717	D	0.89917	1.0	D	0.87578	0.998	D	0.88612	0.3157	10	0.87932	D	0	-27.9082	14.6688	0.68929	0.0:0.8535:0.1465:0.0	.	717	O60312	AT10A_HUMAN	Q	717	ENSP00000349325:R717Q	ENSP00000349325:R717Q	R	-	2	0	ATP10A	23510108	1.000000	0.71417	0.439000	0.26833	0.211000	0.24417	5.765000	0.68834	0.999000	0.39023	0.561000	0.74099	CGG		PASS	0.637	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		45	96	45	96	---	---	---	---
TJP1	7082	broad.mit.edu	37	15	30024643	30024643	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr15:30024643T>G	ENST00000346128.6	-	15	2485	c.2011A>C	c.(2011-2013)Att>Ctt	p.I671L	RP11-680F8.4_ENST00000560740.1_RNA|TJP1_ENST00000545208.2_Missense_Mutation_p.I671L|TJP1_ENST00000356107.6_Missense_Mutation_p.I671L|TJP1_ENST00000400011.2_Missense_Mutation_p.I675L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	671	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.I671L(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TTACTTGCAATTTGATAAATA	0.388																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(2011-2013)ATT>CTT		tight junction protein 1 isoform a							119.0	110.0	113.0					15																	30024643		1819	4097	5916	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30024643T>G		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2011A>C	15.37:g.30024643T>G	ENSP00000281537:p.Ile671Leu					TJP1_uc010azl.2_Missense_Mutation_p.I659L|TJP1_uc001zcq.2_Missense_Mutation_p.I675L|TJP1_uc001zcs.2_Missense_Mutation_p.I671L	p.I671L	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	15	2486	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	671			Guanylate kinase-like.		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.2011A>C	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.384397	0.25031	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.05580	3.42;3.51;3.42;3.42	5.82	4.7	0.59300	Guanylate kinase/L-type calcium channel (1);	0.178817	0.51477	D	0.000082	T	0.05960	0.0155	L	0.43152	1.355	0.80722	D	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.09377	0.001;0.004;0.001;0.002	T	0.32079	-0.9920	9	.	.	.	.	7.8971	0.29712	0.0:0.1782:0.0:0.8218	.	664;671;671;675	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	L	671;675;671;671;671	ENSP00000281537:I671L;ENSP00000382890:I675L;ENSP00000441202:I671L;ENSP00000348416:I671L	.	I	-	1	0	TJP1	27811935	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.208000	0.42797	2.216000	0.71823	0.533000	0.62120	ATT		PASS	0.388	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		8	60	8	60	---	---	---	---
DPH6	89978	broad.mit.edu	37	15	35703062	35703063	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr15:35703062_35703063CC>TA	ENST00000256538.4	-	6	566_567	c.540_541GG>TA	c.(538-543)ctGGat>ctTAat	p.D181N	DPH6_ENST00000560386.1_5'Flank	NM_080650.3	NP_542381.1	Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6	181					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)	p.D181N(2)|p.L180L(1)									TCCATTTGATCCAGGGTTTTCC	0.342																																						uc001zja.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(541-543)GAT>AAT|c.(538-540)CTG>CTT		ATP binding domain 4 isoform 1																																				SO:0001583	missense	89978							g.chr15:35703062C>T|g.chr15:35703063C>A		CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"""diphthine--ammonia ligase"""		"""ATP binding domain 4"", ""DPH6 homolog (S. cerevisiae)"""	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000256538.4:c.540_541delinsTA	15.37:g.35703062_35703063delinsTA	ENSP00000256538:p.Asp181Asn					ATPBD4_uc001ziz.2_Missense_Mutation_p.D165N|ATPBD4_uc001ziz.2_Silent_p.L164L	p.D181N|p.L180L	NM_080650	NP_542381	Q7L8W6	ATBD4_HUMAN		all cancers(64;9.9e-19)|GBM - Glioblastoma multiforme(113;2.01e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)	6	603|602	-		all_epithelial(112;2.11e-09)|Lung NSC(122;2.38e-08)|all_lung(180;3.65e-07)	181|180					B3KWG1|Q96HJ6	Missense_Mutation|Silent	SNP	ENST00000256538.4	37	c.541G>A|c.540G>T	CCDS10043.1																																																																																				PASS	0.342	DPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251973.1	NM_080650		12	35|34	12	34	---	---	---	---
RMDN3	55177	broad.mit.edu	37	15	41029865	41029865	+	Silent	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr15:41029865G>A	ENST00000260385.6	-	9	2252	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	RMDN3_ENST00000558560.1_5'Flank|RMDN3_ENST00000338376.3_Silent_p.L395L			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	395					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L395L(1)									CAGTGGCACTGAGAGGGCTTT	0.468																																						uc001zmo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1183-1185)CTC>CTT		family with sequence similarity 82, member A2							63.0	63.0	63.0					15																	41029865		2203	4300	6503	SO:0001819	synonymous_variant	55177				apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding	g.chr15:41029865G>A	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.1185C>T	15.37:g.41029865G>A						FAM82A2_uc001zmp.1_Silent_p.L395L|FAM82A2_uc001zmq.1_Silent_p.L395L	p.L395L	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN			10	1329	-			395					A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Silent	SNP	ENST00000260385.6	37	c.1185C>T	CCDS10063.1																																																																																				PASS	0.468	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		35	73	35	73	---	---	---	---
CAPN3	825	broad.mit.edu	37	15	42693986	42693986	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr15:42693986C>G	ENST00000397163.3	+	11	1721	c.1502C>G	c.(1501-1503)aCc>aGc	p.T501S	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.T501S|CAPN3_ENST00000337571.4_5'Flank|CAPN3_ENST00000569136.1_5'Flank|CAPN3_ENST00000356316.3_Missense_Mutation_p.T414S|CAPN3_ENST00000397200.4_5'Flank|CAPN3_ENST00000318023.7_Missense_Mutation_p.T501S|CAPN3_ENST00000349748.3_Missense_Mutation_p.T453S	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	501	Domain III.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.T414S(1)|p.T501S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AGTCTCTTCACCATTGGCTTC	0.592																																						uc001zpn.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1501-1503)ACC>AGC		calpain 3 isoform a							58.0	50.0	52.0					15																	42693986		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42693986C>G	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1502C>G	15.37:g.42693986C>G	ENSP00000380349:p.Thr501Ser					CAPN3_uc001zpk.1_Missense_Mutation_p.T274S|CAPN3_uc001zpl.1_Missense_Mutation_p.T414S|CAPN3_uc010udf.1_Missense_Mutation_p.T414S|CAPN3_uc010udg.1_Missense_Mutation_p.T366S|CAPN3_uc001zpo.1_Missense_Mutation_p.T501S|CAPN3_uc001zpp.1_Missense_Mutation_p.T453S|CAPN3_uc001zpq.1_5'Flank|CAPN3_uc010bcv.1_5'Flank|CAPN3_uc001zpr.1_5'Flank|CAPN3_uc001zps.1_5'Flank|CAPN3_uc001zpt.1_5'Flank	p.T501S	NM_000070	NP_000061	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	11	1808	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	501			Domain III.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.1502C>G	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383012	0.82792	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35	4.86	4.86	0.63082	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	U	0.000000	D	0.92586	0.7645	L	0.55017	1.72	0.80722	D	1	D;D;D;D;D;P	0.69078	0.99;0.995;0.98;0.997;0.997;0.95	P;D;P;D;D;P	0.68039	0.829;0.92;0.737;0.925;0.955;0.859	D	0.92120	0.5703	10	0.44086	T	0.13	.	18.1695	0.89740	0.0:1.0:0.0:0.0	.	366;414;453;501;501;414	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	S	414;501;501;453;501	ENSP00000348667:T414S;ENSP00000380349:T501S;ENSP00000350181:T501S;ENSP00000183936:T453S;ENSP00000326281:T501S	ENSP00000326281:T501S	T	+	2	0	CAPN3	40481278	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	7.590000	0.82653	2.535000	0.85469	0.563000	0.77884	ACC		PASS	0.592	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			14	21	14	21	---	---	---	---
CEP152	22995	broad.mit.edu	37	15	49081179	49081179	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr15:49081179G>C	ENST00000380950.2	-	9	1179	c.992C>G	c.(991-993)aCa>aGa	p.T331R	CEP152_ENST00000325747.5_Missense_Mutation_p.T238R|CEP152_ENST00000399334.3_Missense_Mutation_p.T331R	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	331					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.T331R(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CATTTCAGTTGTTCTGGACTT	0.383																																						uc001zwy.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(991-993)ACA>AGA		centrosomal protein 152kDa							127.0	113.0	118.0					15																	49081179		1890	4115	6005	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49081179G>C	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.992C>G	15.37:g.49081179G>C	ENSP00000370337:p.Thr331Arg					CEP152_uc001zwz.2_Missense_Mutation_p.T331R|CEP152_uc001zxa.1_Missense_Mutation_p.T238R	p.T331R	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	9	1026	-		all_lung(180;0.0428)	331			Potential.		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.992C>G	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768048	0.69878	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.79141	-1.24;-1.24;-1.24	6.03	4.93	0.64822	.	0.354519	0.32401	N	0.006156	T	0.81936	0.4928	M	0.67953	2.075	0.32829	D	0.503797	D;D;D	0.76494	0.993;0.999;0.998	P;D;D	0.67548	0.858;0.952;0.914	T	0.79923	-0.1598	10	0.17369	T	0.5	-15.3549	6.9979	0.24793	0.2326:0.0:0.7674:0.0	.	238;331;331	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	R	331;238;331;331	ENSP00000370337:T331R;ENSP00000321000:T238R;ENSP00000382271:T331R	ENSP00000321000:T238R	T	-	2	0	CEP152	46868471	1.000000	0.71417	0.978000	0.43139	0.975000	0.68041	4.897000	0.63231	2.861000	0.98227	0.655000	0.94253	ACA		PASS	0.383	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		33	80	33	80	---	---	---	---
DPP8	54878	broad.mit.edu	37	15	65790284	65790284	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr15:65790284C>A	ENST00000341861.5	-	5	2261	c.681G>T	c.(679-681)tgG>tgT	p.W227C	DPP8_ENST00000339244.5_Missense_Mutation_p.W227C|DPP8_ENST00000358939.4_Missense_Mutation_p.W211C|DPP8_ENST00000300141.6_Missense_Mutation_p.W211C|DPP8_ENST00000321118.7_Missense_Mutation_p.W227C|DPP8_ENST00000559233.1_Missense_Mutation_p.W227C|DPP8_ENST00000321147.6_Missense_Mutation_p.W227C	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	227					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.W211C(2)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TAAAAGCAATCCAGTCTGGAT	0.403																																						uc002aov.2																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(1)	1						c.(679-681)TGG>TGT		dipeptidyl peptidase 8 isoform 1							174.0	143.0	154.0					15																	65790284		2201	4299	6500	SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65790284C>A	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.681G>T	15.37:g.65790284C>A	ENSP00000339208:p.Trp227Cys					DPP8_uc002aow.2_Missense_Mutation_p.W227C|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.W211C|DPP8_uc002aoy.2_Missense_Mutation_p.W227C|DPP8_uc002aoz.2_Missense_Mutation_p.W211C|DPP8_uc010bhj.2_Missense_Mutation_p.W227C|DPP8_uc002apa.2_Missense_Mutation_p.W124C	p.W227C	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN			5	2259	-			227					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.681G>T	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704632	0.68615	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.13	5.13	0.70059	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.64402	D	0.000002	T	0.47248	0.1435	L	0.40543	1.245	0.43719	D	0.996197	B;D;B;B	0.71674	0.065;0.998;0.139;0.08	B;D;B;B	0.64776	0.039;0.929;0.064;0.065	T	0.47711	-0.9096	10	0.72032	D	0.01	0.6438	18.5836	0.91181	0.0:1.0:0.0:0.0	.	211;211;227;227	Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;DPP8_HUMAN	C	227;211;211;227;227;227;227	ENSP00000339208:W227C;ENSP00000351817:W211C;ENSP00000300141:W211C;ENSP00000318111:W227C;ENSP00000316373:W227C;ENSP00000341230:W227C;ENSP00000379013:W227C	ENSP00000300141:W211C	W	-	3	0	DPP8	63577337	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.746000	0.47467	2.355000	0.79922	0.655000	0.94253	TGG		PASS	0.403	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		35	41	35	41	---	---	---	---
DIS3L	115752	broad.mit.edu	37	15	66621404	66621404	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr15:66621404G>T	ENST00000319212.4	+	13	2348	c.2298G>T	c.(2296-2298)atG>atT	p.M766I	RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319194.5_Missense_Mutation_p.M683I	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	766					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.M766I(1)|p.M683I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGCAGGCCATGTCGAATGCTC	0.517																																						uc010ujm.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2296-2298)ATG>ATT		DIS3 mitotic control homolog (S.							91.0	91.0	91.0					15																	66621404		2201	4299	6500	SO:0001583	missense	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66621404G>T		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.2298G>T	15.37:g.66621404G>T	ENSP00000321711:p.Met766Ile					DIS3L_uc002app.2_Missense_Mutation_p.M683I|DIS3L_uc010bho.2_Missense_Mutation_p.M632I	p.M766I	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN			13	2313	+			766					Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	c.2298G>T	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458023	0.84317	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.37411	1.2;1.2	5.76	5.76	0.90799	Ribonuclease II/R (2);	0.070981	0.85682	D	0.000000	T	0.74442	0.3717	H	0.96970	3.915	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.83229	-0.0064	10	0.87932	D	0	-1.294	18.9612	0.92678	0.0:0.0:1.0:0.0	.	766	Q8TF46	DI3L1_HUMAN	I	683;766	ENSP00000321583:M683I;ENSP00000321711:M766I	ENSP00000321583:M683I	M	+	3	0	DIS3L	64408458	1.000000	0.71417	0.998000	0.56505	0.407000	0.30961	9.743000	0.98849	2.715000	0.92844	0.563000	0.77884	ATG		PASS	0.517	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		39	75	39	75	---	---	---	---
MPI	4351	broad.mit.edu	37	15	75188595	75188595	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr15:75188595A>G	ENST00000352410.4	+	6	840	c.773A>G	c.(772-774)aAc>aGc	p.N258S	MPI_ENST00000564003.1_Missense_Mutation_p.N147S|MPI_ENST00000563786.1_Missense_Mutation_p.N238S|MPI_ENST00000323744.6_Missense_Mutation_p.N197S|MPI_ENST00000563422.1_Missense_Mutation_p.N258S|MPI_ENST00000566377.1_Missense_Mutation_p.N258S|MPI_ENST00000562606.1_Missense_Mutation_p.N238S|MPI_ENST00000535694.1_Missense_Mutation_p.N208S			P34949	MPI_HUMAN	mannose phosphate isomerase	258					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)	p.N258S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TACTTCCTGAACCTGCTTACC	0.557																																						uc002azc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(772-774)AAC>AGC		mannose-6- phosphate isomerase							101.0	91.0	95.0					15																	75188595		2197	4295	6492	SO:0001583	missense	4351				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75188595A>G		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.773A>G	15.37:g.75188595A>G	ENSP00000318318:p.Asn258Ser					MPI_uc010ulv.1_Missense_Mutation_p.N258S|MPI_uc010ulw.1_Missense_Mutation_p.N147S|MPI_uc002azd.1_Missense_Mutation_p.N258S|MPI_uc010ulx.1_Missense_Mutation_p.N208S|MPI_uc002aze.1_Missense_Mutation_p.N197S	p.N258S	NM_002435	NP_002426	P34949	MPI_HUMAN			6	778	+			258					A8K8K9|Q96AB0	Missense_Mutation	SNP	ENST00000352410.4	37	c.773A>G	CCDS10272.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.881561	0.91740	.	.	ENSG00000178802	ENST00000352410;ENST00000535694;ENST00000379693;ENST00000323744	D;D;D	0.97959	-4.63;-4.63;-4.5	5.53	5.53	0.82687	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	D	0.99302	0.9756	H	0.98883	4.36	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.993;0.998;0.994	D;D;D;D;D	0.91635	0.999;0.992;0.981;0.989;0.989	D	0.98523	1.0624	10	0.72032	D	0.01	.	14.8852	0.70564	1.0:0.0:0.0:0.0	.	147;258;197;238;258	B4DYB8;B4DFC4;P34949-2;Q8NHZ6;P34949	.;.;.;.;MPI_HUMAN	S	258;208;238;197	ENSP00000318318:N258S;ENSP00000440447:N208S;ENSP00000318192:N197S	ENSP00000318192:N197S	N	+	2	0	MPI	72975648	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.107000	0.94261	2.112000	0.64535	0.454000	0.30748	AAC		PASS	0.557	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4			46	117	46	117	---	---	---	---
CHRNA3	1136	broad.mit.edu	37	15	78894275	78894275	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr15:78894275T>C	ENST00000326828.5	-	5	1093	c.709A>G	c.(709-711)Atc>Gtc	p.I237V	CHRNA3_ENST00000348639.3_Missense_Mutation_p.I237V	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	237				I -> S (in Ref. 1; AAC84176). {ECO:0000305}.	activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.I237V(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	AGGCGCCGGATGTACAGCGAG	0.572																																						uc002bec.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(709-711)ATC>GTC		cholinergic receptor, nicotinic, alpha 3							216.0	176.0	190.0					15																	78894275		2196	4293	6489	SO:0001583	missense	1136				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78894275T>C		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.709A>G	15.37:g.78894275T>C	ENSP00000315602:p.Ile237Val					CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.I237V	p.I237V	NM_000743	NP_000734	P32297	ACHA3_HUMAN			5	895	-			237	I -> S (in Ref. 1; AAC84176).		Extracellular (Potential).		Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	ENST00000326828.5	37	c.709A>G	CCDS10305.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.322882	0.81580	.	.	ENSG00000080644	ENST00000348639;ENST00000326828;ENST00000326858	T;T	0.80393	-1.37;-1.37	5.91	5.91	0.95273	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.90573	0.7045	M	0.89478	3.035	0.58432	D	0.999993	D;D	0.56521	0.976;0.97	D;P	0.63192	0.912;0.814	D	0.92145	0.5723	10	0.72032	D	0.01	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	237;237	P32297;P32297-3	ACHA3_HUMAN;.	V	237;237;101	ENSP00000267951:I237V;ENSP00000315602:I237V	ENSP00000315602:I237V	I	-	1	0	CHRNA3	76681330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.283000	0.72646	2.254000	0.74563	0.533000	0.62120	ATC		PASS	0.572	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			23	56	23	56	---	---	---	---
CHSY1	22856	broad.mit.edu	37	15	101717972	101717972	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr15:101717972T>C	ENST00000254190.3	-	3	2505	c.2030A>G	c.(2029-2031)aAc>aGc	p.N677S	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	677					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.N677S(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGCAAAATGGTTGTCACTGGG	0.418																																						uc002bwt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2029-2031)AAC>AGC		chondroitin sulfate synthase 1							87.0	98.0	94.0					15																	101717972		2203	4299	6502	SO:0001583	missense	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101717972T>C	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.2030A>G	15.37:g.101717972T>C	ENSP00000254190:p.Asn677Ser					CHSY1_uc010usd.1_Missense_Mutation_p.N405S	p.N677S	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		4	2513	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		677			Lumenal (Potential).		Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	37	c.2030A>G	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.083013	0.36758	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.14640	2.49	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.11922	0.0290	N	0.25890	0.77	0.80722	D	1	B	0.20368	0.044	B	0.23716	0.048	T	0.15578	-1.0432	10	0.21540	T	0.41	-67.4038	16.0308	0.80577	0.0:0.0:0.0:1.0	.	677	Q86X52	CHSS1_HUMAN	S	677;405	ENSP00000254190:N677S	ENSP00000254190:N677S	N	-	2	0	CHSY1	99535495	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.109000	0.71528	2.180000	0.69256	0.533000	0.62120	AAC		PASS	0.418	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		56	117	56	117	---	---	---	---
IL4R	3566	broad.mit.edu	37	16	27374479	27374479	+	Silent	SNP	T	T	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr16:27374479T>A	ENST00000395762.2	+	11	2065	c.1806T>A	c.(1804-1806)ggT>ggA	p.G602G	IL4R_ENST00000543915.2_Silent_p.G602G|IL4R_ENST00000170630.2_Silent_p.G602G|IL4R_ENST00000380922.3_Silent_p.G587G	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	602	Required for IL4-induced gene expression.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)	p.G602G(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GAGAGGCTGGTTACAAGGCCT	0.612																																						uc002don.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1804-1806)GGT>GGA		interleukin 4 receptor alpha chain isoform a							34.0	38.0	36.0					16																	27374479		2197	4300	6497	SO:0001819	synonymous_variant	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27374479T>A	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1806T>A	16.37:g.27374479T>A						IL4R_uc002dop.3_Silent_p.G587G|IL4R_uc010bxy.2_Silent_p.G602G|IL4R_uc002doo.2_Silent_p.G442G	p.G602G	NM_000418	NP_000409	P24394	IL4RA_HUMAN			11	2048	+			602			Required for IL4-induced gene expression.|Cytoplasmic (Potential).		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	ENST00000395762.2	37	c.1806T>A	CCDS10629.1																																																																																				PASS	0.612	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			20	70	20	70	---	---	---	---
LPCAT2	54947	broad.mit.edu	37	16	55608595	55608595	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr16:55608595T>C	ENST00000262134.5	+	12	1452	c.1268T>C	c.(1267-1269)tTg>tCg	p.L423S	LPCAT2_ENST00000565056.1_3'UTR	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	423	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)	p.L423S(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CTGGCTGTCTTGTGCAACCCT	0.468																																						uc002eie.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1267-1269)TTG>TCG		lysophosphatidylcholine acyltransferase 2							174.0	134.0	147.0					16																	55608595		2198	4300	6498	SO:0001583	missense	54947				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr16:55608595T>C	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.1268T>C	16.37:g.55608595T>C	ENSP00000262134:p.Leu423Ser					LPCAT2_uc002eic.2_Missense_Mutation_p.L153S	p.L423S	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN			12	1449	+			423			Lumenal (Potential).|EF-hand 1.		A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	c.1268T>C	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.833185	0.91036	.	.	ENSG00000087253	ENST00000262134	T	0.72505	-0.66	6.17	6.17	0.99709	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81394	0.4813	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82682	-0.0336	10	0.87932	D	0	-21.7793	16.8222	0.85835	0.0:0.0:0.0:1.0	.	423	Q7L5N7	PCAT2_HUMAN	S	423	ENSP00000262134:L423S	ENSP00000262134:L423S	L	+	2	0	LPCAT2	54166096	1.000000	0.71417	0.975000	0.42487	0.998000	0.95712	6.864000	0.75494	2.371000	0.80710	0.533000	0.62120	TTG		PASS	0.468	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839		11	34	11	34	---	---	---	---
DRC7	84229	broad.mit.edu	37	16	57760055	57760055	+	Missense_Mutation	SNP	G	G	A	rs542227091	byFrequency	TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr16:57760055G>A	ENST00000360716.3	+	14	2055	c.1834G>A	c.(1834-1836)Gcg>Acg	p.A612T	CCDC135_ENST00000394337.4_Missense_Mutation_p.A612T|CCDC135_ENST00000336825.8_Missense_Mutation_p.A547T			Q8IY82	CC135_HUMAN		612					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)		p.A612T(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GTTTCTGGTCGCGGAGGAGCG	0.632													g|||	4	0.000798722	0.0008	0.0	5008	,	,		16364	0.003		0.0	False		,,,				2504	0.0					uc002emi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1834-1836)GCG>ACG		coiled-coil domain containing 135							56.0	48.0	51.0					16																	57760055		2198	4298	6496	SO:0001583	missense	84229					cytoplasm		g.chr16:57760055G>A																												ENST00000360716.3:c.1834G>A	16.37:g.57760055G>A	ENSP00000353942:p.Ala612Thr					CCDC135_uc002emj.2_Missense_Mutation_p.A612T|CCDC135_uc002emk.2_Missense_Mutation_p.A547T	p.A612T	NM_032269	NP_115645	Q8IY82	CC135_HUMAN			13	1923	+			612					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.1834G>A	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	g	6.322	0.427552	0.11987	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.10192	3.07;2.9;3.07	4.87	-9.73	0.00512	.	3.226540	0.00864	N	0.001941	T	0.04679	0.0127	N	0.22421	0.69	0.09310	N	1	B;B	0.16396	0.017;0.016	B;B	0.09377	0.004;0.004	T	0.36163	-0.9759	10	0.15499	T	0.54	0.6512	0.4774	0.00542	0.2806:0.1555:0.3011:0.2629	.	547;612	Q8IY82-2;Q8IY82	.;CC135_HUMAN	T	612;547;612	ENSP00000377869:A612T;ENSP00000338938:A547T;ENSP00000353942:A612T	ENSP00000338938:A547T	A	+	1	0	CCDC135	56317556	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-5.390000	0.00126	-1.869000	0.01141	0.655000	0.94253	GCG		PASS	0.632	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			22	77	22	77	---	---	---	---
AARS	16	broad.mit.edu	37	16	70302213	70302213	+	Silent	SNP	G	G	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr16:70302213G>C	ENST00000261772.8	-	8	1175	c.1032C>G	c.(1030-1032)ggC>ggG	p.G344G		NM_001605.2	NP_001596.2			alanyl-tRNA synthetase									p.G344G(1)		breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		TAGCAAAGAAGCCCCTGCTGG	0.498																																						uc002eyn.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1030-1032)GGC>GGG		alanyl-tRNA synthetase	L-Alanine(DB00160)						113.0	98.0	103.0					16																	70302213		2198	4300	6498	SO:0001819	synonymous_variant	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70302213G>C	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1032C>G	16.37:g.70302213G>C						AARS_uc010vlu.1_Silent_p.G174G	p.G344G	NM_001605	NP_001596	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	8	1142	-		Ovarian(137;0.0365)	344						Silent	SNP	ENST00000261772.8	37	c.1032C>G	CCDS32474.1																																																																																				PASS	0.498	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		25	76	25	76	---	---	---	---
CHST6	4166	broad.mit.edu	37	16	75512961	75512961	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr16:75512961C>T	ENST00000332272.4	-	3	945	c.766G>A	c.(766-768)Gcc>Acc	p.A256T	CHST6_ENST00000390664.2_Missense_Mutation_p.A256T|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	256					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)	p.A256T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTGAGTGTGGCGGCCTCGGCG	0.721																																						uc002fef.2																			1	Substitution - Missense(1)		lung(1)		0						c.(766-768)GCC>ACC		carbohydrate (N-acetylglucosamine 6-O)							26.0	32.0	30.0					16																	75512961		2193	4293	6486	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75512961C>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.766G>A	16.37:g.75512961C>T	ENSP00000328983:p.Ala256Thr					CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.A256T	p.A256T	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			3	946	-			256			Lumenal (Potential).		D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.766G>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567332	0.86439	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.99737	-6.59;-6.59	4.62	4.62	0.57501	Sulfotransferase domain (1);	0.118873	0.56097	D	0.000027	D	0.99554	0.9840	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.99537	1.0962	10	0.27785	T	0.31	.	14.9564	0.71116	0.0:1.0:0.0:0.0	.	256	Q9GZX3	CHST6_HUMAN	T	256	ENSP00000328983:A256T;ENSP00000375079:A256T	ENSP00000328983:A256T	A	-	1	0	CHST6	74070462	1.000000	0.71417	0.150000	0.22450	0.718000	0.41266	7.685000	0.84117	2.121000	0.65114	0.591000	0.81541	GCC		PASS	0.721	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		43	44	43	44	---	---	---	---
C17orf97	400566	broad.mit.edu	37	17	263657	263657	+	Silent	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr17:263657C>T	ENST00000360127.6	+	2	1039	c.1023C>T	c.(1021-1023)gcC>gcT	p.A341A	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	371	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.A341A(2)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						ACCCCGAGGCCCTCAAGGGCT	0.697																																						uc002frh.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1051-1053)GCC>GCT		hypothetical protein LOC400566							10.0	16.0	14.0					17																	263657		1853	3854	5707	SO:0001819	synonymous_variant	400566							g.chr17:263657C>T	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.1023C>T	17.37:g.263657C>T						C17orf97_uc010vpz.1_RNA	p.A351A	NM_001013672	NP_001013694	Q6ZQX7	CQ097_HUMAN			3	1069	+			371			18.|20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.		A5D8T6|Q6NSI2|Q6PFW9	Silent	SNP	ENST00000360127.6	37	c.1053C>T	CCDS32519.2																																																																																				PASS	0.697	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		5	55	5	55	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578208	7578208	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr17:7578208T>C	ENST00000269305.4	-	6	830	c.641A>G	c.(640-642)cAt>cGt	p.H214R	TP53_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.H214R|TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000359597.4_Missense_Mutation_p.H214R|TP53_ENST00000445888.2_Missense_Mutation_p.H214R	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	214	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(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)	CACCACACTATGTCGAAAAGT	0.542		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		98	Substitution - Missense(69)|Deletion - Frameshift(12)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.H214R(45)|p.0?(7)|p.H214Y(4)|p.H214Q(4)|p.H214D(3)|p.H214fs*5(2)|p.H214fs*33(2)|p.D208fs*1(1)|p.K164_P219del(1)|p.H214H(1)|p.H214fs*7(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)	lung(27)|liver(12)|ovary(8)|biliary_tract(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|large_intestine(5)|urinary_tract(5)|prostate(4)|bone(4)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|soft_tissue(1)|skin(1)|pancreas(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.(640-642)CAT>CGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							127.0	114.0	119.0					17																	7578208		2203	4300	6503	SO:0001583	missense	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.chr17:7578208T>C	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.641A>G	17.37:g.7578208T>C	ENSP00000269305:p.His214Arg	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_Missense_Mutation_p.H214R|TP53_uc002gih.2_Missense_Mutation_p.H214R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H82R|TP53_uc010cng.1_Missense_Mutation_p.H82R|TP53_uc002gii.1_Missense_Mutation_p.H82R|TP53_uc010cnh.1_Missense_Mutation_p.H214R|TP53_uc010cni.1_Missense_Mutation_p.H214R|TP53_uc002gij.2_Missense_Mutation_p.H214R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H121R|TP53_uc002gio.2_Missense_Mutation_p.H82R|TP53_uc010vug.1_Missense_Mutation_p.H175R	p.H214R	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	835	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	214		H -> Y (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		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	Missense_Mutation	SNP	ENST00000269305.4	37	c.641A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	35	5.548167	0.96488	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99755	-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052737	0.85682	D	0.000000	D	0.99664	0.9875	M	0.75615	2.305	0.80722	D	1	D;D;P;D;D;D;D	0.76494	0.999;0.992;0.733;0.999;0.994;0.994;0.999	D;D;B;D;D;D;D	0.74674	0.984;0.947;0.376;0.982;0.95;0.968;0.962	D	0.97475	1.0043	10	0.72032	D	0.01	-26.1151	13.4753	0.61306	0.0:0.0:0.0:1.0	.	175;214;214;121;214;214;214	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	214;214;214;214;214;214;203;121;82;121;82	ENSP00000410739:H214R;ENSP00000352610:H214R;ENSP00000269305:H214R;ENSP00000398846:H214R;ENSP00000391127:H214R;ENSP00000391478:H214R;ENSP00000425104:H82R;ENSP00000423862:H121R	ENSP00000269305:H214R	H	-	2	0	TP53	7518933	1.000000	0.71417	0.283000	0.24790	0.961000	0.63080	7.996000	0.88334	2.128000	0.65567	0.460000	0.39030	CAT		PASS	0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		57	20	57	20	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7751014	7751014	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr17:7751014C>G	ENST00000448097.2	+	11	1739	c.1408C>G	c.(1408-1410)Cca>Gca	p.P470A	KDM6B_ENST00000254846.5_Missense_Mutation_p.P470A			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	470	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.P470A(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ctcaccccctccacccccctg	0.687																																						uc002giw.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1408-1410)CCA>GCA		lysine (K)-specific demethylase 6B							5.0	5.0	5.0					17																	7751014		2121	4196	6317	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7751014C>G	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.1408C>G	17.37:g.7751014C>G	ENSP00000412513:p.Pro470Ala					KDM6B_uc002gix.2_5'UTR	p.P470A	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN			11	1784	+			470			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.1408C>G		.	.	.	.	.	.	.	.	.	.	C	11.02	1.515790	0.27123	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.10005	2.92;2.92	4.19	4.19	0.49359	.	0.491757	0.17035	N	0.189575	T	0.07773	0.0195	N	0.14661	0.345	0.26855	N	0.968079	B	0.15141	0.012	B	0.12156	0.007	T	0.19614	-1.0300	10	0.44086	T	0.13	-0.1553	13.9043	0.63823	0.0:1.0:0.0:0.0	.	470	O15054-1	.	A	470	ENSP00000254846:P470A;ENSP00000412513:P470A	ENSP00000254846:P470A	P	+	1	0	KDM6B	7691739	0.024000	0.19004	1.000000	0.80357	0.885000	0.51271	2.131000	0.42074	2.339000	0.79563	0.555000	0.69702	CCA		PASS	0.687	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		4	7	4	7	---	---	---	---
SREBF1	6720	broad.mit.edu	37	17	17722421	17722421	+	Missense_Mutation	SNP	C	C	A	rs535206411		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr17:17722421C>A	ENST00000261646.5	-	5	1158	c.974G>T	c.(973-975)cGc>cTc	p.R325L	SREBF1_ENST00000355815.4_Missense_Mutation_p.R355L|SREBF1_ENST00000338854.5_Missense_Mutation_p.R325L|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000435530.2_Missense_Mutation_p.R325L|SREBF1_ENST00000395757.1_Missense_Mutation_p.R71L	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	325	Interaction with LMNA. {ECO:0000250}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)	p.R355L(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GTGGGCTGTGCGCTTCTCTCC	0.597																																						uc002gru.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(973-975)CGC>CTC		sterol regulatory element binding transcription							85.0	79.0	81.0					17																	17722421		2203	4300	6503	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17722421C>A	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.974G>T	17.37:g.17722421C>A	ENSP00000261646:p.Arg325Leu					SREBF1_uc002grp.1_5'Flank|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_Missense_Mutation_p.R71L|SREBF1_uc002grs.1_Missense_Mutation_p.R301L|SREBF1_uc002grt.1_Missense_Mutation_p.R355L|SREBF1_uc010cpp.1_Missense_Mutation_p.R301L|SREBF1_uc010cpq.1_Missense_Mutation_p.R325L	p.R325L	NM_004176	NP_004167	P36956	SRBP1_HUMAN			5	1168	-			325			Cytoplasmic (Potential).|Basic motif.|Interaction with LMNA (By similarity).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.974G>T	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390641	0.62066	.	.	ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000418712;ENST00000423161;ENST00000435530	D;D;D;D;D	0.99150	-5.49;-5.49;-5.49;-5.49;-5.49	4.62	4.62	0.57501	Helix-loop-helix DNA-binding (4);	0.000000	0.85682	D	0.000000	D	0.99533	0.9833	H	0.96269	3.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	D	0.97912	1.0309	10	0.87932	D	0	-17.7334	17.0713	0.86574	0.0:1.0:0.0:0.0	.	325;301;325;355	B0I4X3;B0I4X4;P36956;P36956-4	.;.;SRBP1_HUMAN;.	L	325;355;325;71;162;251;325	ENSP00000345822:R325L;ENSP00000348069:R355L;ENSP00000261646:R325L;ENSP00000379106:R71L;ENSP00000413389:R325L	ENSP00000261646:R325L	R	-	2	0	SREBF1	17663146	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.631000	0.83237	2.100000	0.63781	0.561000	0.74099	CGC		PASS	0.597	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		29	166	29	166	---	---	---	---
RAB34	83871	broad.mit.edu	37	17	27043983	27043983	+	Silent	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr17:27043983C>T	ENST00000395245.3	-	2	710	c.84G>A	c.(82-84)ggG>ggA	p.G28G	RAB34_ENST00000395242.2_Silent_p.G28G|RAB34_ENST00000301043.6_Silent_p.G28G|RPL23A_ENST00000422514.2_5'Flank|RAB34_ENST00000453384.3_Silent_p.G85G|RAB34_ENST00000395243.3_Silent_p.G28G|RAB34_ENST00000415040.2_Silent_p.G28G|RAB34_ENST00000447716.1_Silent_p.G85G|RAB34_ENST00000450529.1_Silent_p.G28G|RAB34_ENST00000436730.3_Silent_p.G28G	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	28					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)	p.G85G(1)|p.G28G(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					AGTCTTTGTGCCCGTGCAAAG	0.637																																					Pancreas(175;216 2049 29940 32498 41589)	uc002hce.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(82-84)GGG>GGA		Ras-related protein RAB34 isoform 1							75.0	75.0	75.0					17																	27043983		2203	4300	6503	SO:0001819	synonymous_variant	83871				protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	g.chr17:27043983C>T	AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"""RAB, member RAS oncogene"""	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.84G>A	17.37:g.27043983C>T						RAB34_uc002hcg.2_Silent_p.G28G|RAB34_uc002hcf.2_Silent_p.G28G|RAB34_uc010was.1_Silent_p.G85G|RAB34_uc010wat.1_Silent_p.G85G|RAB34_uc002hch.2_Silent_p.G28G|RAB34_uc010wau.1_Silent_p.G28G|RAB34_uc010wav.1_Silent_p.G85G	p.G28G	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN			2	708	-	Lung NSC(42;0.00431)		28					B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Silent	SNP	ENST00000395245.3	37	c.84G>A	CCDS11240.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.844105	0.32606	.	.	ENSG00000109113	ENST00000419712	.	.	.	5.39	3.26	0.37387	.	0.383930	0.27831	N	0.017676	T	0.59945	0.2231	.	.	.	.	.	.	.	.	.	.	.	.	T	0.67837	-0.5567	5	0.30854	T	0.27	-7.0045	13.2842	0.60232	0.0:0.5132:0.4868:0.0	.	.	.	.	D	48	.	ENSP00000391025:G48D	G	-	2	0	RAB34	24068110	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	0.331000	0.19733	1.467000	0.48044	0.561000	0.74099	GGC		PASS	0.637	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345906.1	NM_031934		5	230	5	230	---	---	---	---
MED1	5469	broad.mit.edu	37	17	37565861	37565861	+	Silent	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr17:37565861G>A	ENST00000300651.6	-	17	2836	c.2613C>T	c.(2611-2613)aaC>aaT	p.N871N	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.N871N(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGCTCTGGCTGTTCAATAAAT	0.398										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(2611-2613)AAC>AAT		mediator complex subunit 1							85.0	88.0	87.0					17																	37565861		2202	4300	6502	SO:0001819	synonymous_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37565861G>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2613C>T	17.37:g.37565861G>A		HNSCC(31;0.082)				MED1_uc010wee.1_Silent_p.N699N|MED1_uc002hru.2_Intron	p.N871N	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	2825	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	871			Interaction with ESR1.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000300651.6	37	c.2613C>T	CCDS11336.1																																																																																				PASS	0.398	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		26	89	26	89	---	---	---	---
CCDC43	124808	broad.mit.edu	37	17	42761315	42761315	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr17:42761315G>A	ENST00000315286.8	-	2	225	c.217C>T	c.(217-219)Ctc>Ttc	p.L73F	CCDC43_ENST00000457422.2_Missense_Mutation_p.L73F|C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000588210.1_Missense_Mutation_p.L73F	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	73								p.L73F(2)		lung(2)	2		Prostate(33;0.0322)				ATATTAAGGAGGGAATCTTCT	0.393																																						uc002ihc.2																			2	Substitution - Missense(2)		lung(2)		0						c.(217-219)CTC>TTC		coiled-coil domain containing 43 isoform 1							98.0	92.0	94.0					17																	42761315		1846	4093	5939	SO:0001583	missense	124808							g.chr17:42761315G>A	AK056357	CCDS45704.1, CCDS45705.1	17q21.31	2005-12-16							26472	protein-coding gene	gene with protein product						12477932	Standard	NM_001099225		Approved	FLJ31795	uc002ihc.2	Q96MW1		ENST00000315286.8:c.217C>T	17.37:g.42761315G>A	ENSP00000323782:p.Leu73Phe					CCDC43_uc010czw.1_Missense_Mutation_p.L73F	p.L73F	NM_144609	NP_653210	Q96MW1	CCD43_HUMAN			2	261	-		Prostate(33;0.0322)	73					C9JVK9	Missense_Mutation	SNP	ENST00000315286.8	37	c.217C>T	CCDS45704.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723994	0.68959	.	.	ENSG00000180329	ENST00000315286;ENST00000457422	.	.	.	5.9	5.9	0.94986	.	0.272836	0.35407	N	0.003239	T	0.78207	0.4247	M	0.81942	2.565	0.47407	D	0.999418	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.974	T	0.80103	-0.1522	9	0.72032	D	0.01	-7.9754	10.2881	0.43579	0.1493:0.0:0.8507:0.0	.	73;73	Q96MW1-2;Q96MW1	.;CCD43_HUMAN	F	73	.	ENSP00000323782:L73F	L	-	1	0	CCDC43	40116841	0.984000	0.35163	0.890000	0.34922	0.984000	0.73092	2.003000	0.40844	2.788000	0.95919	0.650000	0.86243	CTC		PASS	0.393	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457812.1	NM_144609		11	23	11	23	---	---	---	---
KANSL1	284058	broad.mit.edu	37	17	44249081	44249081	+	Silent	SNP	C	C	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr17:44249081C>A	ENST00000262419.6	-	2	899	c.429G>T	c.(427-429)acG>acT	p.T143T	KANSL1_ENST00000575318.1_Silent_p.T143T|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Silent_p.T143T|KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000432791.1_Silent_p.T143T|KANSL1_ENST00000572904.1_Silent_p.T143T	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	143					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.T143T(1)									TCTGACCACTCGTATTCATGG	0.438																																						uc002ikb.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(427-429)ACG>ACT		hypothetical protein LOC284058							154.0	218.0	196.0					17																	44249081		2203	4300	6503	SO:0001819	synonymous_variant	284058					MLL1 complex	protein binding	g.chr17:44249081C>A	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.429G>T	17.37:g.44249081C>A						KIAA1267_uc002ikc.2_Silent_p.T143T|KIAA1267_uc002ikd.2_Silent_p.T143T|KIAA1267_uc010dav.2_Silent_p.T143T	p.T143T	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN			1	514	-		Melanoma(429;0.211)	143					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Silent	SNP	ENST00000262419.6	37	c.429G>T	CCDS11503.1																																																																																				PASS	0.438	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		5	439	5	439	---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49197943	49197943	+	Silent	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr17:49197943G>A	ENST00000262013.7	-	1	283	c.75C>T	c.(73-75)tcC>tcT	p.S25S	SPAG9_ENST00000505279.1_Silent_p.S25S|SPAG9_ENST00000357122.4_Silent_p.S25S	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	25					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.S25S(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CGGCCAGGCCGGACACCCGCT	0.692																																						uc002itc.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|breast(1)	5						c.(73-75)TCC>TCT		sperm associated antigen 9 isoform 1							30.0	29.0	29.0					17																	49197943		2203	4298	6501	SO:0001819	synonymous_variant	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49197943G>A	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.75C>T	17.37:g.49197943G>A						SPAG9_uc002itb.2_Silent_p.S25S|SPAG9_uc002itd.2_Silent_p.S25S	p.S25S	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		1	284	-			25					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Silent	SNP	ENST00000262013.7	37	c.75C>T	CCDS45740.1																																																																																				PASS	0.692	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		9	17	9	17	---	---	---	---
KCNH6	81033	broad.mit.edu	37	17	61619602	61619602	+	Splice_Site	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr17:61619602G>A	ENST00000583023.1	+	9	1966	c.1955G>A	c.(1954-1956)gGa>gAa	p.G652E	KCNH6_ENST00000314672.5_Splice_Site_p.G652E|KCNH6_ENST00000581784.1_Splice_Site_p.G599E|KCNH6_ENST00000456941.2_Splice_Site_p.G599E	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	652					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.G652E(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGGCTGGCAGGAAAGAATGAC	0.587																																						uc002jay.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1954-1956)GGA>GAA		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						84.0	60.0	68.0					17																	61619602		2203	4300	6503	SO:0001630	splice_region_variant	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61619602G>A	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1955-1G>A	17.37:g.61619602G>A						KCNH6_uc010wpl.1_Missense_Mutation_p.G529E|KCNH6_uc010wpm.1_Missense_Mutation_p.G652E|KCNH6_uc002jaz.1_Missense_Mutation_p.G599E	p.G652E	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			9	2035	+			652			cNMP.|Cytoplasmic (Potential).		Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.1955G>A	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483509	0.63962	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.93189	-3.18;-3.18	4.58	3.61	0.41365	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.063428	0.64402	D	0.000007	D	0.95443	0.8520	M	0.70787	2.145	0.80722	D	1	P;D;D;D	0.65815	0.945;0.984;0.995;0.984	D;D;P;D	0.68039	0.933;0.955;0.908;0.939	D	0.94466	0.7680	9	.	.	.	.	12.2023	0.54333	0.0837:0.0:0.9163:0.0	.	529;652;599;652	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	E	652;599	ENSP00000318212:G652E;ENSP00000396900:G599E	.	G	+	2	0	KCNH6	58973334	1.000000	0.71417	0.992000	0.48379	0.506000	0.33950	9.864000	0.99589	0.889000	0.36185	0.591000	0.81541	GGA		PASS	0.587	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779	Missense_Mutation	16	40	16	40	---	---	---	---
ABCA8	10351	broad.mit.edu	37	17	66914254	66914254	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr17:66914254C>A	ENST00000269080.2	-	14	1998	c.1861G>T	c.(1861-1863)Gaa>Taa	p.E621*	ABCA8_ENST00000430352.2_Nonsense_Mutation_p.E661*|ABCA8_ENST00000586539.1_Nonsense_Mutation_p.E661*	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	621	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.E621*(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GTTTTGCGTTCTTTCAGAAGG	0.463																																						uc002jhp.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1861-1863)GAA>TAA		ATP-binding cassette, sub-family A member 8							191.0	150.0	164.0					17																	66914254		2203	4300	6503	SO:0001587	stop_gained	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66914254C>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1861G>T	17.37:g.66914254C>A	ENSP00000269080:p.Glu621*					ABCA8_uc002jhq.2_Nonsense_Mutation_p.E661*|ABCA8_uc010wqq.1_Nonsense_Mutation_p.E661*|ABCA8_uc010wqr.1_Nonsense_Mutation_p.E600*|ABCA8_uc002jhr.2_Nonsense_Mutation_p.E661*	p.E621*	NM_007168	NP_009099	O94911	ABCA8_HUMAN			14	2040	-	Breast(10;4.56e-13)		621			ABC transporter 1.		A1L3U3|C9JQE6|Q86WW0	Nonsense_Mutation	SNP	ENST00000269080.2	37	c.1861G>T	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	37	6.433654	0.97564	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	.	.	.	4.26	4.26	0.50523	.	0.382752	0.20445	N	0.092209	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	16.1975	0.82042	0.0:1.0:0.0:0.0	.	.	.	.	X	621;661;600	.	ENSP00000269080:E621X	E	-	1	0	ABCA8	64425849	0.991000	0.36638	0.866000	0.34008	0.128000	0.20619	2.647000	0.46639	2.369000	0.80426	0.643000	0.83706	GAA		PASS	0.463	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		11	43	11	43	---	---	---	---
P4HB	5034	broad.mit.edu	37	17	79801949	79801950	+	Missense_Mutation	DNP	TC	TC	GA	rs148124283		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr17:79801949_79801950TC>GA	ENST00000331483.4	-	11	1687_1688	c.1465_1466GA>TC	c.(1465-1467)GAa>TCa	p.E489S	P4HB_ENST00000472244.1_5'Flank|RP11-498C9.2_ENST00000576784.1_RNA|P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Missense_Mutation_p.E445S	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	489					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)	p.E489S(1)|p.E489*(1)|p.E489A(1)		NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CTCCTCTGCTTCTTCCAGGTCC	0.609																																					Colon(49;444 983 1296 7887 42561)	uc002kbn.1																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)		0						c.(1465-1467)GAA>GCA|c.(1465-1467)GAA>TAA		prolyl 4-hydroxylase, beta subunit precursor																																				SO:0001583	missense	5034				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr17:79801949T>G|g.chr17:79801950C>A	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.1465_1466delinsGA	17.37:g.79801949_79801950delinsGA	ENSP00000327801:p.Glu489Ser					P4HB_uc002kbl.1_Missense_Mutation_p.E166A|P4HB_uc002kbm.1_Missense_Mutation_p.E166A|P4HB_uc002kbl.1_Nonsense_Mutation_p.E166*|P4HB_uc002kbm.1_Nonsense_Mutation_p.E166*	p.E489A|p.E489*	NM_000918	NP_000909	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		11	1663|1662	-	all_neural(118;0.0878)|Ovarian(332;0.12)		489					B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000331483.4	37	c.1466A>C|c.1465G>T	CCDS11787.1																																																																																				PASS	0.609	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918		79|80	279|278	79	278	---	---	---	---
P4HB	5034	broad.mit.edu	37	17	79803533	79803533	+	Silent	SNP	G	G	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr17:79803533G>C	ENST00000331483.4	-	9	1485	c.1263C>G	c.(1261-1263)gtC>gtG	p.V421V	P4HB_ENST00000472244.1_5'Flank|RP11-498C9.2_ENST00000576784.1_RNA|P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Silent_p.V377V	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	421	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)	p.V421V(1)		NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCTTGGCGATGACGATGTTCT	0.542																																					Colon(49;444 983 1296 7887 42561)	uc002kbn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1261-1263)GTC>GTG		prolyl 4-hydroxylase, beta subunit precursor							173.0	128.0	143.0					17																	79803533		2203	4300	6503	SO:0001819	synonymous_variant	5034				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr17:79803533G>C	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.1263C>G	17.37:g.79803533G>C						P4HB_uc002kbl.1_Silent_p.V98V|P4HB_uc002kbm.1_Silent_p.V98V	p.V421V	NM_000918	NP_000909	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		9	1460	-	all_neural(118;0.0878)|Ovarian(332;0.12)		421			Thioredoxin 2.		B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Silent	SNP	ENST00000331483.4	37	c.1263C>G	CCDS11787.1	.	.	.	.	.	.	.	.	.	.	G	0.759	-0.769830	0.02974	.	.	ENSG00000185624	ENST00000415593	.	.	.	5.85	4.88	0.63580	.	.	.	.	.	T	0.74824	0.3767	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73560	-0.3944	4	.	.	.	.	18.1128	0.89541	0.0639:0.0:0.9361:0.0	.	.	.	.	D	187	.	.	H	-	1	0	P4HB	77396822	1.000000	0.71417	0.937000	0.37676	0.058000	0.15608	1.295000	0.33377	0.831000	0.34780	-0.797000	0.03246	CAT		PASS	0.542	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918		9	30	9	30	---	---	---	---
APCDD1	147495	broad.mit.edu	37	18	10487807	10487807	+	Silent	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr18:10487807C>T	ENST00000355285.5	+	5	1671	c.1317C>T	c.(1315-1317)aaC>aaT	p.N439N		NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1									p.N439N(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TGCTGTTCAACGGTCAGAGGC	0.607																																						uc002kom.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1315-1317)AAC>AAT		adenomatosis polyposis coli down-regulated 1							80.0	77.0	78.0					18																	10487807		2203	4300	6503	SO:0001819	synonymous_variant	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10487807C>T	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.1317C>T	18.37:g.10487807C>T							p.N439N	NM_153000	NP_694545	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	5	1671	+			439			Extracellular (Potential).			Silent	SNP	ENST00000355285.5	37	c.1317C>T	CCDS11849.1																																																																																				PASS	0.607	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		14	127	14	127	---	---	---	---
CHST9	83539	broad.mit.edu	37	18	24496806	24496806	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr18:24496806T>A	ENST00000284224.8	-	6	1026	c.749A>T	c.(748-750)cAc>cTc	p.H250L	CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.H250L|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	250					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.H250L(1)|p.H165L(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)					CTTCCCGTAGTGGACAGCATT	0.428																																						uc002kwd.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(748-750)CAC>CTC		GalNAc-4-sulfotransferase 2							149.0	136.0	140.0					18																	24496806		1888	4113	6001	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.chr18:24496806T>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.749A>T	18.37:g.24496806T>A	ENSP00000284224:p.His250Leu					C18orf16_uc002kwb.2_Intron|C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_Missense_Mutation_p.H165L|CHST9_uc002kwe.2_Missense_Mutation_p.H250L	p.H250L	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN			5	947	-	all_lung(6;0.0145)|Ovarian(20;0.124)		250			Lumenal (Potential).		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	c.749A>T	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850200	0.71719	.	.	ENSG00000154080	ENST00000284224	T	0.74947	-0.89	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.88317	0.6404	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89999	0.4113	10	0.87932	D	0	-19.5742	16.8222	0.85835	0.0:0.0:0.0:1.0	.	250	Q7L1S5	CHST9_HUMAN	L	250	ENSP00000284224:H250L	ENSP00000284224:H250L	H	-	2	0	CHST9	22750804	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.185000	0.72013	2.371000	0.80710	0.533000	0.62120	CAC		PASS	0.428	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		26	28	26	28	---	---	---	---
ARID3A	1820	broad.mit.edu	37	19	960131	960131	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr19:960131C>G	ENST00000263620.3	+	4	1060	c.733C>G	c.(733-735)Ctg>Gtg	p.L245V		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	245	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)	p.L245V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGGAATTCCTGGATGACTT	0.597																																					Pancreas(29;54 1022 32760 50921)	uc002lql.2																			1	Substitution - Missense(1)		lung(1)		0						c.(733-735)CTG>GTG		AT rich interactive domain 3A (BRIGHT- like)							117.0	102.0	107.0					19																	960131		2203	4300	6503	SO:0001583	missense	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:960131C>G	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.733C>G	19.37:g.960131C>G	ENSP00000263620:p.Leu245Val						p.L245V	NM_005224	NP_005215	Q99856	ARI3A_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)	4	1023	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	245			ARID.		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	ENST00000263620.3	37	c.733C>G	CCDS12050.1	.	.	.	.	.	.	.	.	.	.	c	15.70	2.909622	0.52439	.	.	ENSG00000116017	ENST00000263620	T	0.67171	-0.25	3.5	2.46	0.29980	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.64402	D	0.000007	T	0.72622	0.3483	L	0.53729	1.69	0.80722	D	1	P	0.50272	0.933	P	0.62491	0.903	T	0.72293	-0.4336	10	0.87932	D	0	-0.2543	8.5089	0.33204	0.0:0.8807:0.0:0.1193	.	245	Q99856	ARI3A_HUMAN	V	245	ENSP00000263620:L245V	ENSP00000263620:L245V	L	+	1	2	ARID3A	911131	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	5.086000	0.64474	0.677000	0.31305	-0.481000	0.04817	CTG		PASS	0.597	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		39	68	39	68	---	---	---	---
ANKRD24	170961	broad.mit.edu	37	19	4219654	4219654	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr19:4219654G>A	ENST00000600132.1	+	19	3346	c.3070G>A	c.(3070-3072)Gag>Aag	p.E1024K	ANKRD24_ENST00000262970.5_Missense_Mutation_p.E1114K|ANKRD24_ENST00000318934.4_Missense_Mutation_p.E1024K	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1024								p.E1114K(1)|p.E1024K(1)|p.E589K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GGCCACAGCAGAGCAGCAGCT	0.652																																						uc010dtt.1																			3	Substitution - Missense(3)		lung(3)		0						c.(3070-3072)GAG>AAG		ankyrin repeat domain 24							51.0	62.0	58.0					19																	4219654		2174	4278	6452	SO:0001583	missense	170961							g.chr19:4219654G>A	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.3070G>A	19.37:g.4219654G>A	ENSP00000471252:p.Glu1024Lys						p.E1024K	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	19	3346	+			1024			Potential.		O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	c.3070G>A	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	g	19.56	3.850560	0.71719	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.40225	1.08;1.04	3.79	2.62	0.31277	.	.	.	.	.	T	0.18257	0.0438	N	0.08118	0	0.24968	N	0.991688	P	0.42692	0.787	B	0.33042	0.157	T	0.02567	-1.1140	9	0.31617	T	0.26	.	8.4546	0.32890	0.0:0.2411:0.7589:0.0	.	1024	Q8TF21	ANR24_HUMAN	K	1024;1114	ENSP00000321731:E1024K;ENSP00000262970:E1114K	ENSP00000262970:E1114K	E	+	1	0	ANKRD24	4170654	0.984000	0.35163	0.961000	0.40146	0.849000	0.48306	2.037000	0.41174	2.080000	0.62538	0.313000	0.20887	GAG		PASS	0.652	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		70	138	70	138	---	---	---	---
INSR	3643	broad.mit.edu	37	19	7163054	7163054	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr19:7163054T>C	ENST00000302850.5	-	9	2160	c.2018A>G	c.(2017-2019)tAt>tGt	p.Y673C	AC010311.1_ENST00000581768.1_RNA|INSR_ENST00000341500.5_Missense_Mutation_p.Y673C	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	673	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.Y673C(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TTTGAGGCAATAATCCAGCTC	0.547																																						uc002mgd.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(2017-2019)TAT>TGT		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						147.0	112.0	124.0					19																	7163054		2203	4300	6503	SO:0001583	missense	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7163054T>C	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2018A>G	19.37:g.7163054T>C	ENSP00000303830:p.Tyr673Cys					INSR_uc002mge.1_Missense_Mutation_p.Y673C|INSR_uc002mgf.2_Missense_Mutation_p.Y673C	p.Y673C	NM_000208	NP_000199	P06213	INSR_HUMAN			9	2127	-			673			Fibronectin type-III 1.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.2018A>G	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	T	19.61	3.859451	0.71834	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.80566	-1.39;-1.39	4.45	4.45	0.53987	Fibronectin, type III (3);	0.000000	0.37955	U	0.001869	D	0.90235	0.6947	M	0.89414	3.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.991	D	0.91721	0.5389	10	0.87932	D	0	.	11.9739	0.53081	0.0:0.0:0.0:1.0	.	664;673;673	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	C	673	ENSP00000303830:Y673C;ENSP00000342838:Y673C	ENSP00000303830:Y673C	Y	-	2	0	INSR	7114054	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.582000	0.82546	1.769000	0.52152	0.533000	0.62120	TAT		PASS	0.547	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			27	145	27	145	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10602649	10602649	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr19:10602649A>G	ENST00000171111.5	-	3	1476	c.929T>C	c.(928-930)cTg>cCg	p.L310P	KEAP1_ENST00000588024.1_5'UTR|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000393623.2_Missense_Mutation_p.L310P	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	310					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.L310P(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GGGCTTGTGCAGGGTGAGCTC	0.637																																						uc002moq.1																			1	Substitution - Missense(1)		lung(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(928-930)CTG>CCG		kelch-like ECH-associated protein 1							46.0	51.0	50.0					19																	10602649		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602649A>G	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.929T>C	19.37:g.10602649A>G	ENSP00000171111:p.Leu310Pro					KEAP1_uc002mop.1_Missense_Mutation_p.L28P|KEAP1_uc002mor.1_Missense_Mutation_p.L310P	p.L310P	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1085	-			310	L->A: Loss of export from nucleus; when associated with A-308.		Nuclear export signal.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.929T>C	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385249	0.82792	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.73152	-0.72;-0.72	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.63488	0.915	T	0.77354	-0.2619	10	0.87932	D	0	.	13.7725	0.63034	1.0:0.0:0.0:0.0	.	310	Q14145	KEAP1_HUMAN	P	310	ENSP00000171111:L310P;ENSP00000377245:L310P	ENSP00000171111:L310P	L	-	2	0	KEAP1	10463649	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.577000	0.67444	2.146000	0.66826	0.459000	0.35465	CTG		PASS	0.637	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		47	79	47	79	---	---	---	---
DNAJB1	3337	broad.mit.edu	37	19	14627679	14627679	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr19:14627679A>C	ENST00000254322.2	-	2	461	c.391T>G	c.(391-393)Ttc>Gtc	p.F131V	DNAJB1_ENST00000396969.4_Missense_Mutation_p.F31V	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	131					chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)	p.F131V(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		AAGCCAGAGAATGGGTCATCA	0.567																																						uc002myz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)TTC>GTC		DnaJ (Hsp40) homolog, subfamily B, member 1							83.0	73.0	76.0					19																	14627679		2203	4300	6503	SO:0001583	missense	3337				chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding	g.chr19:14627679A>C	D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"""Heat shock proteins / DNAJ (HSP40)"""	5270	protein-coding gene	gene with protein product	"""radial spoke 16 homolog B (Chlamydomonas)"""	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.391T>G	19.37:g.14627679A>C	ENSP00000254322:p.Phe131Val					DNAJB1_uc010xnr.1_Missense_Mutation_p.F31V	p.F131V	NM_006145	NP_006136	P25685	DNJB1_HUMAN		GBM - Glioblastoma multiforme(1328;0.0476)	2	431	-			131					B4DX52	Missense_Mutation	SNP	ENST00000254322.2	37	c.391T>G	CCDS12312.1	.	.	.	.	.	.	.	.	.	.	a	19.30	3.800358	0.70567	.	.	ENSG00000132002	ENST00000254322;ENST00000396969	T;T	0.60171	0.21;1.27	4.83	3.82	0.43975	.	0.053431	0.85682	D	0.000000	T	0.72716	0.3495	M	0.89968	3.075	0.80722	D	1	D	0.58268	0.982	P	0.62382	0.901	T	0.72766	-0.4194	10	0.13853	T	0.58	.	8.6168	0.33838	0.907:0.0:0.093:0.0	.	131	P25685	DNJB1_HUMAN	V	131;31	ENSP00000254322:F131V;ENSP00000444212:F31V	ENSP00000254322:F131V	F	-	1	0	DNAJB1	14488679	1.000000	0.71417	0.175000	0.22980	0.944000	0.59088	7.240000	0.78192	0.696000	0.31696	0.459000	0.35465	TTC		PASS	0.567	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465987.1	NM_006145		94	128	94	128	---	---	---	---
ARRDC2	27106	broad.mit.edu	37	19	18119344	18119344	+	Silent	SNP	C	C	T	rs370715491		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr19:18119344C>T	ENST00000222250.4	+	1	368	c.225C>T	c.(223-225)taC>taT	p.Y75Y	ARRDC2_ENST00000608009.1_3'UTR|ARRDC2_ENST00000379656.3_Intron	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	75					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)		p.Y75Y(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						CGCAGAGCTACAGTGAACGCG	0.711																																						uc002nhv.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(223-225)TAC>TAT		arrestin domain containing 2 isoform 1		C	,	0,4352		0,0,2176	10.0	12.0	12.0		,225	3.7	1.0	19		12	1,8487		0,1,4243	no	intron,coding-synonymous	ARRDC2	NM_001025604.1,NM_015683.1	,	0,1,6419	TT,TC,CC		0.0118,0.0,0.0078	,	,75/408	18119344	1,12839	2176	4244	6420	SO:0001819	synonymous_variant	27106							g.chr19:18119344C>T		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.225C>T	19.37:g.18119344C>T						ARRDC2_uc002nhu.2_Intron	p.Y75Y	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN			1	368	+			75					B2RBG9|O95895|Q6ZRV9|Q8WYG6	Silent	SNP	ENST00000222250.4	37	c.225C>T	CCDS12370.1																																																																																				PASS	0.711	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		9	19	9	19	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23556594	23556594	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr19:23556594C>T	ENST00000300619.7	-	3	408	c.203G>A	c.(202-204)gGa>gAa	p.G68E	ZNF91_ENST00000397082.2_Intron|ZNF91_ENST00000599743.1_Missense_Mutation_p.G68E	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	68	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G68E(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGGCTCTTTTCCTTGCTCCAG	0.433																																						uc002nre.2																			1	Substitution - Missense(1)		lung(1)		0						c.(202-204)GGA>GAA		zinc finger protein 91							93.0	96.0	95.0					19																	23556594		2203	4300	6503	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23556594C>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.203G>A	19.37:g.23556594C>T	ENSP00000300619:p.Gly68Glu					ZNF91_uc010xrj.1_Intron	p.G68E	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			3	316	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	68			KRAB.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.203G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	4.692	0.128608	0.08981	.	.	ENSG00000167232	ENST00000300619	T	0.00892	5.57	0.158	0.158	0.14942	Krueppel-associated box (3);	.	.	.	.	T	0.00875	0.0029	L	0.28694	0.88	0.09310	N	1	B	0.20052	0.041	B	0.24974	0.057	T	0.46816	-0.9164	8	0.21014	T	0.42	.	.	.	.	.	68	Q05481	ZNF91_HUMAN	E	68	ENSP00000300619:G68E	ENSP00000300619:G68E	G	-	2	0	ZNF91	23348434	0.021000	0.18746	0.043000	0.18650	0.043000	0.13939	0.031000	0.13710	0.202000	0.20498	0.205000	0.17691	GGA		PASS	0.433	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		19	74	19	74	---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	41040049	41040049	+	Silent	SNP	C	C	T	rs370944456		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr19:41040049C>T	ENST00000352632.3	+	20	4244	c.4158C>T	c.(4156-4158)ggC>ggT	p.G1386G	SPTBN4_ENST00000392025.1_Silent_p.G129G|SPTBN4_ENST00000595535.1_Silent_p.G1386G|SPTBN4_ENST00000338932.3_Silent_p.G1386G|SPTBN4_ENST00000392023.1_Silent_p.G62G|SPTBN4_ENST00000598249.1_Silent_p.G1386G			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1386					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.G1386G(1)|p.G62G(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGAAGCTGGGCGAGATCCGCC	0.637																																						uc002ony.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(4156-4158)GGC>GGT		spectrin, beta, non-erythrocytic 4 isoform		C	,	1,4403		0,1,2201	18.0	19.0	19.0		4158,186	-5.9	0.9	19		19	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	SPTBN4	NM_020971.2,NM_025213.2	,	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	,	1386/2565,62/679	41040049	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41040049C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.4158C>T	19.37:g.41040049C>T						SPTBN4_uc002onx.2_Silent_p.G1386G|SPTBN4_uc002onz.2_Silent_p.G1386G|SPTBN4_uc010egx.2_Silent_p.G129G|SPTBN4_uc010egy.1_Silent_p.G62G|SPTBN4_uc002ooa.2_Silent_p.G62G|SPTBN4_uc010egz.1_Silent_p.G62G	p.G1386G	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		20	4244	+			1386			Spectrin 11.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.4158C>T	CCDS12559.1																																																																																				PASS	0.637	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			8	12	8	12	---	---	---	---
CYP2B6	1555	broad.mit.edu	37	19	41512931	41512931	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr19:41512931C>G	ENST00000324071.4	+	4	613	c.606C>G	c.(604-606)ttC>ttG	p.F202L	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	202					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.F202L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	TGAACTTGTTCTACCAGACTT	0.512																																						uc002opr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(604-606)TTC>TTG		cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						163.0	144.0	151.0					19																	41512931		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41512931C>G	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.606C>G	19.37:g.41512931C>G	ENSP00000324648:p.Phe202Leu					CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron	p.F202L	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		4	613	+			202					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.606C>G	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	2.988	-0.208827	0.06140	.	.	ENSG00000197408	ENST00000324071	T	0.67865	-0.29	4.46	-2.04	0.07343	.	0.320870	0.32343	N	0.006234	T	0.30727	0.0774	N	0.05306	-0.075	0.20307	N	0.999917	B	0.11235	0.004	B	0.20384	0.029	T	0.23726	-1.0180	10	0.06365	T	0.9	.	2.7878	0.05379	0.1362:0.2941:0.4004:0.1693	.	202	P20813	CP2B6_HUMAN	L	202	ENSP00000324648:F202L	ENSP00000324648:F202L	F	+	3	2	CYP2B6	46204771	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.946000	0.01536	-0.098000	0.12285	0.480000	0.44947	TTC		PASS	0.512	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		38	86	38	86	---	---	---	---
PRKD2	25865	broad.mit.edu	37	19	47207510	47207510	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr19:47207510T>C	ENST00000291281.4	-	5	1030	c.805A>G	c.(805-807)Atc>Gtc	p.I269V	PRKD2_ENST00000595515.1_Missense_Mutation_p.I269V|PRKD2_ENST00000601806.1_Missense_Mutation_p.I112V|PRKD2_ENST00000600194.1_Missense_Mutation_p.I112V|PRKD2_ENST00000433867.1_Missense_Mutation_p.I269V			Q9BZL6	KPCD2_HUMAN	protein kinase D2	269					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|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 ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.I269V(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TAGCTGTGGATGAGGAAGGTG	0.582											OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002pfh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7						c.(805-807)ATC>GTC		protein kinase D2 isoform A							174.0	154.0	161.0					19																	47207510		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47207510T>C	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.805A>G	19.37:g.47207510T>C	ENSP00000291281:p.Ile269Val		OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	PRKD2_uc002pfg.2_Missense_Mutation_p.I112V|PRKD2_uc002pfi.2_Missense_Mutation_p.I269V|PRKD2_uc002pfj.2_Missense_Mutation_p.I269V|PRKD2_uc010xye.1_Missense_Mutation_p.I269V|PRKD2_uc002pfk.2_Missense_Mutation_p.I112V	p.I269V	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	6	1147	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	269			Phorbol-ester/DAG-type 2.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.805A>G	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	T	3.638	-0.074139	0.07184	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	D;D	0.92446	-3.04;-3.04	5.18	4.14	0.48551	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.254509	0.31415	N	0.007686	T	0.73418	0.3584	N	0.00996	-1.065	0.32248	N	0.571763	B;B	0.06786	0.001;0.001	B;B	0.17722	0.019;0.019	T	0.67597	-0.5630	10	0.02654	T	1	-37.2146	10.4564	0.44553	0.0:0.0798:0.0:0.9202	.	269;269	E7ER94;Q9BZL6	.;KPCD2_HUMAN	V	269	ENSP00000291281:I269V;ENSP00000393978:I269V	ENSP00000291281:I269V	I	-	1	0	PRKD2	51899350	0.049000	0.20398	1.000000	0.80357	0.928000	0.56348	0.273000	0.18662	0.884000	0.36064	0.368000	0.22195	ATC		PASS	0.582	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		37	86	37	86	---	---	---	---
PPP1R15A	23645	broad.mit.edu	37	19	49378889	49378889	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr19:49378889G>A	ENST00000200453.5	+	3	1953	c.1684G>A	c.(1684-1686)Gtc>Atc	p.V562I		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	562	Interaction with SMARCB1.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)	p.V562I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CTCCGAGAAGGTCACTGTCCA	0.687																																						uc002pky.3																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1684-1686)GTC>ATC		protein phosphatase 1, regulatory subunit 15A							38.0	42.0	40.0					19																	49378889		2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49378889G>A	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1684G>A	19.37:g.49378889G>A	ENSP00000200453:p.Val562Ile						p.V562I	NM_014330	NP_055145	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	3	1953	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	562			Interaction with SMARCB1.		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.1684G>A	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713606	0.48517	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.31769	1.48	4.87	3.83	0.44106	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.000000	0.56097	D	0.000024	T	0.40119	0.1104	M	0.72353	2.195	0.42276	D	0.992078	D	0.52996	0.957	P	0.49752	0.621	T	0.41752	-0.9491	10	0.87932	D	0	-21.8	9.5585	0.39355	0.0996:0.0:0.9004:0.0	.	562	O75807	PR15A_HUMAN	I	562;402;520	ENSP00000200453:V562I	ENSP00000200453:V562I	V	+	1	0	PPP1R15A	54070701	1.000000	0.71417	0.962000	0.40283	0.532000	0.34746	3.218000	0.51192	1.364000	0.46038	0.591000	0.81541	GTC		PASS	0.687	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		62	59	62	59	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51165736	51165736	+	Missense_Mutation	SNP	C	C	T	rs201545692		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr19:51165736C>T	ENST00000293441.1	-	23	5990	c.5972G>A	c.(5971-5973)cGg>cAg	p.R1991Q	SHANK1_ENST00000359082.3_Missense_Mutation_p.R1982Q|SHANK1_ENST00000483981.2_5'UTR|SHANK1_ENST00000391814.1_Missense_Mutation_p.R1999Q|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_Missense_Mutation_p.R1378Q	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1991					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.R1991Q(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAGAGGGGGCCGCATCTCGAA	0.741													c|||	1	0.000199681	0.0	0.0	5008	,	,		12457	0.0		0.001	False		,,,				2504	0.0					uc002psx.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(5971-5973)CGG>CAG		SH3 and multiple ankyrin repeat domains 1							10.0	11.0	11.0					19																	51165736		2117	4142	6259	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51165736C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.5972G>A	19.37:g.51165736C>T	ENSP00000293441:p.Arg1991Gln					SHANK1_uc002psw.1_Missense_Mutation_p.R1375Q	p.R1991Q	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	23	5991	-		all_neural(266;0.057)	1991					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.5972G>A	CCDS12799.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	12.16	1.856031	0.32791	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.51325	0.79;1.29;0.82;0.71	3.97	3.97	0.46021	.	0.999489	0.08094	U	0.998862	T	0.41419	0.1158	L	0.40543	1.245	0.37468	D	0.915499	P;P	0.46952	0.48;0.887	B;B	0.36186	0.02;0.219	T	0.55386	-0.8149	10	0.87932	D	0	.	15.2986	0.73928	0.0:1.0:0.0:0.0	.	1991;1378	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	Q	1991;1378;1982;1999	ENSP00000293441:R1991Q;ENSP00000375689:R1378Q;ENSP00000351984:R1982Q;ENSP00000375690:R1999Q	ENSP00000293441:R1991Q	R	-	2	0	SHANK1	55857548	0.988000	0.35896	1.000000	0.80357	0.995000	0.86356	0.973000	0.29422	2.222000	0.72286	0.455000	0.32223	CGG		PASS	0.741	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		5	3	5	3	---	---	---	---
ZNF616	90317	broad.mit.edu	37	19	52633754	52633754	+	Splice_Site	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr19:52633754C>T	ENST00000600228.1	-	2	273	c.12G>A	c.(10-12)caG>caA	p.Q4Q	CTC-471J1.8_ENST00000594362.1_RNA|ZNF616_ENST00000596290.1_Splice_Site_p.Q4Q|ZNF616_ENST00000597013.1_Splice_Site_p.Q4Q|ZNF616_ENST00000330123.5_Splice_Site_p.Q4Q	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	4					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.Q4Q(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATCACTCTACCTGAGTAGCCA	0.413																																						uc002pym.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(10-12)CAG>CAA		zinc finger protein 616							288.0	231.0	250.0					19																	52633754		2203	4300	6503	SO:0001630	splice_region_variant	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52633754C>T	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.12+1G>A	19.37:g.52633754C>T						ZNF616_uc002pyn.2_RNA	p.Q4Q	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	2	295	-			4					B3KRV1|Q0P658|Q658V7	Silent	SNP	ENST00000600228.1	37	c.12G>A	CCDS33090.1																																																																																				PASS	0.413	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892	Silent	47	30	47	30	---	---	---	---
C20orf96	140680	broad.mit.edu	37	20	259859	259859	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr20:259859G>A	ENST00000360321.2	-	5	557	c.419C>T	c.(418-420)aCg>aTg	p.T140M	C20orf96_ENST00000400269.3_Missense_Mutation_p.T82M|C20orf96_ENST00000382369.5_Missense_Mutation_p.T105M	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	140								p.T140M(1)		endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GTGCAGGGTCGTGCTGTTCTC	0.682																																						uc002wde.1																			1	Substitution - Missense(1)		lung(1)		0						c.(418-420)ACG>ATG		hypothetical protein LOC140680							102.0	71.0	82.0					20																	259859		2203	4300	6503	SO:0001583	missense	140680							g.chr20:259859G>A	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.419C>T	20.37:g.259859G>A	ENSP00000353470:p.Thr140Met					C20orf96_uc002wdc.2_Missense_Mutation_p.T87M|C20orf96_uc002wdd.2_Missense_Mutation_p.T105M|C20orf96_uc010zpi.1_Missense_Mutation_p.T87M|C20orf96_uc010zpj.1_Missense_Mutation_p.T105M|C20orf96_uc010zpk.1_Missense_Mutation_p.T78M	p.T140M	NM_153269	NP_695001	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		5	558	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	140			Potential.		A3KPE0|B2RPH9|Q8N840|Q8NAX5	Missense_Mutation	SNP	ENST00000360321.2	37	c.419C>T	CCDS12994.1	.	.	.	.	.	.	.	.	.	.	G	9.968	1.224600	0.22457	.	.	ENSG00000196476	ENST00000382369;ENST00000360321;ENST00000400269	T;T;T	0.57436	0.4;0.4;0.4	4.78	3.81	0.43845	.	0.905537	0.09343	N	0.815127	T	0.45276	0.1334	L	0.39898	1.24	0.09310	N	1	P;P;P;P	0.48764	0.915;0.915;0.789;0.915	B;B;B;B	0.41236	0.351;0.351;0.236;0.351	T	0.33548	-0.9864	10	0.72032	D	0.01	1.5264	9.5094	0.39067	0.0989:0.0:0.9011:0.0	.	82;105;140;105	F5GZA9;B7Z971;Q9NUD7;Q5JYC3	.;.;CT096_HUMAN;.	M	105;140;82	ENSP00000371806:T105M;ENSP00000353470:T140M;ENSP00000383128:T82M	ENSP00000353470:T140M	T	-	2	0	C20orf96	207859	0.004000	0.15560	0.202000	0.23494	0.076000	0.17211	1.201000	0.32259	1.341000	0.45600	0.462000	0.41574	ACG		PASS	0.682	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269		31	55	31	55	---	---	---	---
CDS2	8760	broad.mit.edu	37	20	5157335	5157335	+	Silent	SNP	T	T	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr20:5157335T>A	ENST00000460006.1	+	4	640	c.333T>A	c.(331-333)acT>acA	p.T111T	CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_5'Flank|CDS2_ENST00000379062.4_Intron	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	111					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)	p.T111T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						AGATAATCACTATTGGCTACA	0.453																																						uc002wls.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(331-333)ACT>ACA		phosphatidate cytidylyltransferase 2							228.0	211.0	217.0					20																	5157335		2203	4300	6503	SO:0001819	synonymous_variant	8760				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity	g.chr20:5157335T>A	AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.333T>A	20.37:g.5157335T>A						CDS2_uc002wlr.1_Silent_p.T33T|CDS2_uc010zqt.1_RNA|CDS2_uc002wlu.2_Silent_p.T56T|CDS2_uc010zqu.1_Intron|CDS2_uc002wlv.2_Silent_p.T13T|CDS2_uc010zqv.1_5'Flank	p.T111T	NM_003818	NP_003809	O95674	CDS2_HUMAN			4	590	+			111					B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Silent	SNP	ENST00000460006.1	37	c.333T>A	CCDS13088.1																																																																																				PASS	0.453	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2			8	131	8	131	---	---	---	---
EMILIN3	90187	broad.mit.edu	37	20	39990911	39990911	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr20:39990911T>C	ENST00000332312.3	-	4	1490	c.1298A>G	c.(1297-1299)gAc>gGc	p.D433G		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	433						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)		p.D433G(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				AAGCAGCCCGTCCACACCTCC	0.667																																						uc002xjy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1297-1299)GAC>GGC		elastin microfibril interfacer 3							85.0	87.0	86.0					20																	39990911		2203	4300	6503	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39990911T>C	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1298A>G	20.37:g.39990911T>C	ENSP00000332806:p.Asp433Gly						p.D433G	NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN			4	1522	-		Myeloproliferative disorder(115;0.00425)	433					Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.1298A>G	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	T	3.304	-0.142167	0.06669	.	.	ENSG00000183798	ENST00000332312	T	0.16457	2.34	5.14	4.04	0.47022	.	0.364959	0.30901	N	0.008641	T	0.12092	0.0294	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25398	-1.0133	9	.	.	.	-4.0889	10.7615	0.46268	0.0:0.0751:0.0:0.9249	.	433	Q9NT22	EMIL3_HUMAN	G	433	ENSP00000332806:D433G	.	D	-	2	0	EMILIN3	39424325	0.942000	0.31987	0.025000	0.17156	0.180000	0.23129	1.942000	0.40243	0.813000	0.34350	0.459000	0.35465	GAC		PASS	0.667	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		85	184	85	184	---	---	---	---
GNAS	2778	broad.mit.edu	37	20	57428683	57428683	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr20:57428683T>G	ENST00000306120.3	+	1	173	c.173T>G	c.(172-174)cTg>cGg	p.L58R	GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Silent_p.P121P|GNAS_ENST00000371102.4_Silent_p.P121P|GNAS_ENST00000371100.4_Silent_p.P121P|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS-AS1_ENST00000424094.2_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.P121P(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGGAGCAGCCTGGATTCCCCA	0.632			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzw.2				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		1	Substitution - coding silent(1)		lung(1)	pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(361-363)CCT>CCG		GNAS complex locus XLas							32.0	36.0	35.0					20																	57428683		1910	4109	6019	SO:0001583	missense	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57428683T>G	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000306120.3:c.173T>G	20.37:g.57428683T>G	ENSP00000302237:p.Leu58Arg	TSP Lung(22;0.16)				GNASAS_uc002xzs.1_5'Flank|GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	p.P121P	NM_080425	NP_536350	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	648	+	all_lung(29;0.0104)		Error:Variant_position_missing_in_P63092_after_alignment					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	ENST00000306120.3	37	c.363T>G		.	.	.	.	.	.	.	.	.	.	T	13.11	2.138105	0.37728	.	.	ENSG00000087460	ENST00000306120	.	.	.	4.35	-5.62	0.02481	.	.	.	.	.	T	0.43211	0.1237	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.54603	-0.8269	5	0.62326	D	0.03	.	0.2927	0.00261	0.2856:0.1948:0.2902:0.2293	.	.	.	.	R	58	.	ENSP00000302237:L58R	L	+	2	0	GNAS	56862078	0.000000	0.05858	0.424000	0.26647	0.557000	0.35523	-1.040000	0.03546	-0.777000	0.04572	0.455000	0.32223	CTG		PASS	0.632	GNAS-050	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000267987.1	NM_000516		33	56	33	56	---	---	---	---
POTED	317754	broad.mit.edu	37	21	14982968	14982968	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr21:14982968T>A	ENST00000299443.5	+	1	471	c.419T>A	c.(418-420)cTg>cAg	p.L140Q		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	140						plasma membrane (GO:0005886)		p.L140Q(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CGAGAAGATCTGGACAAGCTC	0.582																																						uc002yjb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(418-420)CTG>CAG		pote protein							33.0	44.0	42.0					21																	14982968		763	3116	3879	SO:0001583	missense	317754					plasma membrane		g.chr21:14982968T>A	AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.419T>A	21.37:g.14982968T>A	ENSP00000299443:p.Leu140Gln						p.L140Q	NM_174981	NP_778146	Q86YR6	POTED_HUMAN			1	471	+			140					C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	c.419T>A	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.658078	0.29425	.	.	ENSG00000166351	ENST00000299443	T	0.54675	0.56	1.29	1.29	0.21616	Ankyrin repeat-containing domain (2);	.	.	.	.	T	0.55768	0.1941	L	0.53249	1.67	0.09310	N	1	P	0.51240	0.943	P	0.55011	0.766	T	0.44742	-0.9308	9	0.87932	D	0	.	4.7583	0.13095	0.0:0.0:0.0:1.0	.	140	Q86YR6	POTED_HUMAN	Q	140	ENSP00000299443:L140Q	ENSP00000299443:L140Q	L	+	2	0	POTED	13904839	0.009000	0.17119	0.001000	0.08648	0.014000	0.08584	1.253000	0.32886	0.841000	0.35020	0.155000	0.16302	CTG		PASS	0.582	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981		72	30	72	30	---	---	---	---
KRTAP19-3	337970	broad.mit.edu	37	21	31864238	31864238	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr21:31864238T>C	ENST00000334063.4	-	1	37	c.38A>G	c.(37-39)tAt>tGt	p.Y13C		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	13						intermediate filament (GO:0005882)		p.Y13C(1)		large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						TCCACAGCCATAGCCCAGGCC	0.557																																						uc002yog.1																			1	Substitution - Missense(1)		lung(1)		0						c.(37-39)TAT>TGT		keratin associated protein 19-3							151.0	145.0	147.0					21																	31864238		2203	4300	6503	SO:0001583	missense	337970					intermediate filament		g.chr21:31864238T>C	AP001708	CCDS13596.1	21q22.1	2011-02-10			ENSG00000244025	ENSG00000244025		"""Keratin associated proteins"""	18938	protein-coding gene	gene with protein product						12359730	Standard	NM_181609		Approved	KAP19.3	uc002yog.1	Q7Z4W3	OTTHUMG00000057782	ENST00000334063.4:c.38A>G	21.37:g.31864238T>C	ENSP00000386376:p.Tyr13Cys						p.Y13C	NM_181609	NP_853640	Q7Z4W3	KR193_HUMAN			1	38	-			13						Missense_Mutation	SNP	ENST00000334063.4	37	c.38A>G	CCDS13596.1	.	.	.	.	.	.	.	.	.	.	T	6.702	0.498184	0.12762	.	.	ENSG00000244025	ENST00000334063	T	0.19532	2.14	3.96	-2.51	0.06365	.	0.229512	0.21734	U	0.069921	T	0.11153	0.0272	.	.	.	0.20489	N	0.999892	B	0.21520	0.057	B	0.23574	0.047	T	0.17410	-1.0370	9	0.87932	D	0	.	0.808	0.01088	0.1695:0.3047:0.1739:0.3518	.	13	Q7Z4W3	KR193_HUMAN	C	13	ENSP00000386376:Y13C	ENSP00000386376:Y13C	Y	-	2	0	KRTAP19-3	30786109	0.000000	0.05858	0.010000	0.14722	0.059000	0.15707	-1.990000	0.01479	-0.471000	0.06891	0.533000	0.62120	TAT		PASS	0.557	KRTAP19-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128234.2			55	36	55	36	---	---	---	---
COL6A2	1292	broad.mit.edu	37	21	47541030	47541030	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr21:47541030G>C	ENST00000300527.4	+	17	1555	c.1451G>C	c.(1450-1452)gGa>gCa	p.G484A	COL6A2_ENST00000310645.5_Missense_Mutation_p.G484A|COL6A2_ENST00000409416.1_Missense_Mutation_p.G484A|COL6A2_ENST00000397763.1_Missense_Mutation_p.G484A|COL6A2_ENST00000357838.4_Missense_Mutation_p.G484A	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	484	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.G484A(3)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGGAGCCCGGAAAGCAGGTC	0.642																																						uc002zia.1																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(7)|ovary(1)	8						c.(1450-1452)GGA>GCA		alpha 2 type VI collagen isoform 2C2 precursor							48.0	53.0	51.0					21																	47541030		2201	4298	6499	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47541030G>C	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1451G>C	21.37:g.47541030G>C	ENSP00000300527:p.Gly484Ala					COL6A2_uc002zhy.1_Missense_Mutation_p.G484A|COL6A2_uc002zhz.1_Missense_Mutation_p.G484A|COL6A2_uc002zib.1_Intron	p.G484A	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	17	1533	+	Breast(49;0.245)		484			Triple-helical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.1451G>C	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118568	0.56505	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763;ENST00000413758	D;D;D;D;D;D	0.99158	-5.5;-5.5;-5.5;-5.5;-5.5;-5.5	4.79	4.79	0.61399	.	0.056193	0.64402	D	0.000001	D	0.99417	0.9794	H	0.95470	3.675	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.85130	0.997;0.937;0.994	D	0.98786	1.0734	10	0.72032	D	0.01	-19.3831	10.471	0.44638	0.0891:0.0:0.9109:0.0	.	484;484;484	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	A	484;484;484;484;484;25	ENSP00000300527:G484A;ENSP00000350497:G484A;ENSP00000312529:G484A;ENSP00000387115:G484A;ENSP00000380870:G484A;ENSP00000395751:G25A	ENSP00000300527:G484A	G	+	2	0	COL6A2	46365458	1.000000	0.71417	0.964000	0.40570	0.141000	0.21300	8.147000	0.89628	2.217000	0.71921	0.591000	0.81541	GGA		PASS	0.642	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			20	49	20	49	---	---	---	---
IGLV2-8	28817	broad.mit.edu	37	22	23165714	23165714	+	RNA	SNP	C	C	A	rs375756545		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr22:23165714C>A	ENST00000390317.2	+	0	447				MIR650_ENST00000385101.1_RNA					immunoglobulin lambda variable 2-8																		CCTCCCTGACCGTCTCTGGGC	0.522																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							166.0	162.0	163.0					22																	23165714		1906	4123	6029			96610							g.chr22:23165714C>A	X97462		22q11.2	2012-02-08			ENSG00000211671	ENSG00000278196		"""Immunoglobulins / IGL locus"""	5895	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151240		22.37:g.23165714C>A														287		+									RNA	SNP	ENST00000390317.2	37	c.13276C>A																																																																																					PASS	0.522	IGLV2-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321845.1	NG_000002		76	269	76	269	---	---	---	---
SLC5A1	6523	broad.mit.edu	37	22	32506172	32506172	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr22:32506172C>A	ENST00000266088.4	+	15	2217	c.1967C>A	c.(1966-1968)gCt>gAt	p.A656D	SLC5A1_ENST00000543737.1_Missense_Mutation_p.A529D	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	656					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)	p.A656D(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	GTGACCGTGGCTGTCTTTTGC	0.483																																						uc003amc.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1966-1968)GCT>GAT		solute carrier family 5 (sodium/glucose							317.0	235.0	263.0					22																	32506172		2203	4300	6503	SO:0001583	missense	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32506172C>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1967C>A	22.37:g.32506172C>A	ENSP00000266088:p.Ala656Asp					SLC5A1_uc011alz.1_Missense_Mutation_p.A529D	p.A656D	NM_000343	NP_000334	P13866	SC5A1_HUMAN			15	2199	+			656			Helical; (Potential).		B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	c.1967C>A	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469323	0.84533	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.89050	-2.13;-2.46	5.57	5.57	0.84162	.	0.104600	0.64402	D	0.000004	D	0.92466	0.7608	M	0.84948	2.725	0.58432	D	0.999999	P	0.43973	0.823	P	0.47075	0.536	D	0.92520	0.6024	10	0.46703	T	0.11	.	18.5295	0.90986	0.0:1.0:0.0:0.0	.	656	P13866	SC5A1_HUMAN	D	656;529	ENSP00000266088:A656D;ENSP00000444898:A529D	ENSP00000266088:A656D	A	+	2	0	SLC5A1	30836172	0.999000	0.42202	0.975000	0.42487	0.959000	0.62525	3.761000	0.55242	2.620000	0.88729	0.650000	0.86243	GCT		PASS	0.483	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		13	79	13	79	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048	byFrequency	TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582																																						uc003atr.2																			6	Substitution - coding silent(6)		kidney(3)|cervix(1)|lung(1)|endometrium(1)	central_nervous_system(1)	1						c.(1294-1296)TGC>TGT		TRIO and F-actin binding protein isoform 6																																				SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119859C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1296C>T	22.37:g.38119859C>T						TRIOBP_uc003atu.2_Silent_p.C260C|TRIOBP_uc003atq.1_Silent_p.C432C|TRIOBP_uc003ats.1_Silent_p.C260C	p.C432C	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	1567	+	Melanoma(58;0.0574)		432					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1296C>T	CCDS43015.1																																																																																				PASS	0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			5	239	5	239	---	---	---	---
MOV10L1	54456	broad.mit.edu	37	22	50555692	50555692	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr22:50555692G>T	ENST00000262794.5	+	9	1449	c.1366G>T	c.(1366-1368)Gcg>Tcg	p.A456S	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.A456S|MOV10L1_ENST00000545383.1_Missense_Mutation_p.A456S|MOV10L1_ENST00000540615.1_Missense_Mutation_p.A436S	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	456					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.A436S(1)|p.A456S(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ACTAATTGCTGCGCGCGAACC	0.443																																						uc003bjj.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1366-1368)GCG>TCG		MOV10-like 1 isoform 1							85.0	81.0	83.0					22																	50555692		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50555692G>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1366G>T	22.37:g.50555692G>T	ENSP00000262794:p.Ala456Ser					MOV10L1_uc003bjk.3_Missense_Mutation_p.A456S|MOV10L1_uc011arp.1_Missense_Mutation_p.A436S|MOV10L1_uc011arq.1_Missense_Mutation_p.A217S|MOV10L1_uc010hao.1_RNA	p.A456S	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	9	1449	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	456					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.1366G>T	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	8.549	0.875100	0.17395	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.85258	-1.76;-1.76;-1.35;-1.96	5.76	3.57	0.40892	.	0.292229	0.36409	N	0.002612	T	0.65984	0.2744	N	0.04508	-0.205	0.25062	N	0.991057	B;P;P;P	0.40398	0.036;0.682;0.554;0.716	B;B;B;B	0.41946	0.037;0.371;0.205;0.205	T	0.59075	-0.7522	10	0.12430	T	0.62	-22.4874	6.2894	0.21051	0.179:0.1468:0.6742:0.0	.	217;436;456;456	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	S	456;456;456;436	ENSP00000438978:A456S;ENSP00000262794:A456S;ENSP00000379199:A456S;ENSP00000438542:A436S	ENSP00000262794:A456S	A	+	1	0	MOV10L1	48897819	0.036000	0.19791	0.015000	0.15790	0.033000	0.12548	1.245000	0.32790	0.675000	0.31264	0.650000	0.86243	GCG		PASS	0.443	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		38	51	38	51	---	---	---	---
MAGEB18	286514	broad.mit.edu	37	X	26157221	26157221	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chrX:26157221C>T	ENST00000325250.1	+	2	306	c.119C>T	c.(118-120)cCt>cTt	p.P40L		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	40			P -> S (in dbSNP:rs5944317). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)		p.S40F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TCACCCTCCCCTGCCTATCTT	0.577																																						uc004dbq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(118-120)TCT>TTT		melanoma antigen family B, 18							50.0	44.0	46.0					X																	26157221		2202	4300	6502	SO:0001583	missense	286514						protein binding	g.chrX:26157221C>T	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.119C>T	X.37:g.26157221C>T	ENSP00000314543:p.Pro40Leu						p.S40F	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN			2	306	+			40						Missense_Mutation	SNP	ENST00000325250.1	37	c.119C>T	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235472	0.22626	.	.	ENSG00000176774	ENST00000325250	T	0.03920	3.76	4.17	1.36	0.22044	Melanoma associated antigen, MAGE, N-terminal (1);	2.302700	0.02191	N	0.061355	T	0.04452	0.0122	N	0.20986	0.625	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.41034	-0.9531	10	0.66056	D	0.02	.	2.9062	0.05721	0.2192:0.5386:0.0:0.2421	.	40	Q96M61	MAGBI_HUMAN	L	40	ENSP00000314543:P40L	ENSP00000314543:P40L	P	+	2	0	MAGEB18	26067142	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.048000	0.11944	0.147000	0.19030	0.600000	0.82982	CCT		PASS	0.577	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		8	15	8	15	---	---	---	---
MAGEB2	4113	broad.mit.edu	37	X	30237487	30237487	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chrX:30237487C>G	ENST00000378988.4	+	2	891	c.790C>G	c.(790-792)Ccc>Gcc	p.P264A		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	264	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.P264A(2)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CAAGCAGGTGCCCAGCAGTGA	0.512																																						uc004dbz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(790-792)CCC>GCC		melanoma antigen family B, 2							56.0	50.0	52.0					X																	30237487		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30237487C>G	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.790C>G	X.37:g.30237487C>G	ENSP00000368273:p.Pro264Ala						p.P264A	NM_002364	NP_002355	O15479	MAGB2_HUMAN			2	893	+			264			MAGE.		O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.790C>G	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092513	0.36952	.	.	ENSG00000099399	ENST00000378988	T	0.05717	3.4	3.27	2.4	0.29515	.	0.258114	0.38837	N	0.001541	T	0.08447	0.0210	L	0.49571	1.57	0.09310	N	1	P	0.39601	0.68	P	0.45406	0.479	T	0.13469	-1.0508	10	0.39692	T	0.17	.	5.8183	0.18514	0.0:0.8494:0.0:0.1506	.	264	O15479	MAGB2_HUMAN	A	264	ENSP00000368273:P264A	ENSP00000368273:P264A	P	+	1	0	MAGEB2	30147408	0.016000	0.18221	0.351000	0.25721	0.545000	0.35147	0.277000	0.18734	0.775000	0.33450	0.436000	0.28706	CCC		PASS	0.512	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		19	5	19	5	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44896929	44896929	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chrX:44896929A>G	ENST00000377967.4	+	8	690	c.649A>G	c.(649-651)Acc>Gcc	p.T217A	KDM6A_ENST00000382899.4_Missense_Mutation_p.T217A|KDM6A_ENST00000543216.1_Missense_Mutation_p.T217A|KDM6A_ENST00000536777.1_Missense_Mutation_p.T217A	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	217	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(12)|p.0?(6)|p.T217A(1)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTTATATGAAACCCAGGTAAG	0.299			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3				Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		20	No detectable mRNA/protein(12)|Whole gene deletion(6)|Substitution - Missense(1)|Unknown(1)	p.0(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(11)|oesophagus(4)|breast(2)|pancreas(2)|lung(1)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(649-651)ACC>GCC		ubiquitously transcribed tetratricopeptide							110.0	105.0	107.0					X																	44896929		2202	4297	6499	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44896929A>G	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.649A>G	X.37:g.44896929A>G	ENSP00000367203:p.Thr217Ala					KDM6A_uc010nhk.2_Missense_Mutation_p.T217A|KDM6A_uc011mkz.1_Missense_Mutation_p.T217A|KDM6A_uc011mla.1_Missense_Mutation_p.T217A|KDM6A_uc011mlb.1_Missense_Mutation_p.T217A|KDM6A_uc011mlc.1_5'UTR	p.T217A	NM_021140	NP_066963	O15550	KDM6A_HUMAN			8	1024	+			217			TPR 4.		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.649A>G	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	A	15.86	2.957846	0.53400	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000542299	T;T;T;T	0.51071	2.35;2.35;0.72;2.35	5.62	5.62	0.85841	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.097855	0.64402	D	0.000001	T	0.42653	0.1212	N	0.22421	0.69	0.39208	D	0.96326	B;B;B;B;P	0.36599	0.012;0.108;0.244;0.141;0.56	B;B;B;B;B	0.42959	0.023;0.138;0.37;0.077;0.403	T	0.49051	-0.8979	10	0.54805	T	0.06	-1.9987	14.9992	0.71459	1.0:0.0:0.0:0.0	.	217;217;217;217;217	F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;KDM6A_HUMAN	A	217	ENSP00000367203:T217A;ENSP00000437405:T217A;ENSP00000372355:T217A;ENSP00000443078:T217A	ENSP00000367203:T217A	T	+	1	0	KDM6A	44781873	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.793000	0.85851	1.993000	0.58246	0.481000	0.45027	ACC		PASS	0.299	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		9	10	9	10	---	---	---	---
CCNB3	85417	broad.mit.edu	37	X	50052359	50052359	+	Missense_Mutation	SNP	G	G	C	rs372451442		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chrX:50052359G>C	ENST00000376042.1	+	6	1488	c.1190G>C	c.(1189-1191)cGt>cCt	p.R397P	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.R397P			Q8WWL7	CCNB3_HUMAN	cyclin B3	397					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.R397P(2)|p.R397H(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AAGAGGTCCCGTCTGAAGCCA	0.468																																						uc004dox.3																			4	Substitution - Missense(4)		lung(2)|endometrium(2)	ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(1189-1191)CGT>CCT		cyclin B3 isoform 3							72.0	63.0	66.0					X																	50052359		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50052359G>C	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1190G>C	X.37:g.50052359G>C	ENSP00000365210:p.Arg397Pro					CCNB3_uc004doy.2_Missense_Mutation_p.R397P|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.R397P	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	1488	+	Ovarian(276;0.236)		397					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.1190G>C	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	8.058	0.767396	0.15983	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.37058	1.22;1.22	2.93	-1.32	0.09201	.	40.401500	0.00166	N	0.000000	T	0.20901	0.0503	N	0.14661	0.345	0.09310	N	1	B	0.20261	0.043	B	0.08055	0.003	T	0.09840	-1.0656	9	.	.	.	.	5.7649	0.18221	0.5432:0.0:0.4568:0.0	.	397	Q8WWL7	CCNB3_HUMAN	P	397	ENSP00000365210:R397P;ENSP00000276014:R397P	.	R	+	2	0	CCNB3	50069099	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.668000	0.01959	-0.284000	0.09102	-0.533000	0.04299	CGT		PASS	0.468	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			5	22	5	22	---	---	---	---
NKRF	55922	broad.mit.edu	37	X	118723942	118723942	+	Silent	SNP	C	C	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chrX:118723942C>A	ENST00000371527.1	-	2	2098	c.1446G>T	c.(1444-1446)gtG>gtT	p.V482V	NKRF_ENST00000542113.1_Silent_p.V497V|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Silent_p.V482V	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	482					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.V482V(3)|p.V497V(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TCTCTAGAATCACTTTGCATT	0.463																																						uc004erq.2																			4	Substitution - coding silent(4)		lung(2)|prostate(2)	ovary(1)|central_nervous_system(1)	2						c.(1444-1446)GTG>GTT		transcription factor NRF							101.0	101.0	101.0					X																	118723942		2203	4299	6502	SO:0001819	synonymous_variant	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118723942C>A	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1446G>T	X.37:g.118723942C>A						NKRF_uc004err.2_Silent_p.V482V	p.V482V	NM_017544	NP_060014	O15226	NKRF_HUMAN			2	2099	-			482					G3V1N1|Q4VC41|Q9UJ91	Silent	SNP	ENST00000371527.1	37	c.1446G>T	CCDS35375.1																																																																																				PASS	0.463	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		5	87	5	87	---	---	---	---
ARHGEF6	9459	broad.mit.edu	37	X	135795454	135795454	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chrX:135795454G>T	ENST00000250617.6	-	7	2013	c.808C>A	c.(808-810)Ccc>Acc	p.P270T	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.P116T|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.P143T|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.P116T	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	270	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P270T(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GACTGCAGGGGTCTTAAGTAA	0.323																																						uc004fab.2																			1	Substitution - Missense(1)		lung(1)		0						c.(808-810)CCC>ACC		Rac/Cdc42 guanine nucleotide exchange factor 6							153.0	134.0	140.0					X																	135795454		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135795454G>T	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.808C>A	X.37:g.135795454G>T	ENSP00000250617:p.Pro270Thr					ARHGEF6_uc011mwd.1_Missense_Mutation_p.P143T|ARHGEF6_uc011mwe.1_Missense_Mutation_p.P116T	p.P270T	NM_004840	NP_004831	Q15052	ARHG6_HUMAN			7	1270	-	Acute lymphoblastic leukemia(192;0.000127)		270			DH.		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.808C>A	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087421	0.76642	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.84	5.84	0.93424	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.85362	0.5679	M	0.90483	3.12	0.80722	D	1	P;D	0.60160	0.866;0.987	P;D	0.74674	0.844;0.984	D	0.88004	0.2758	10	0.72032	D	0.01	.	17.7297	0.88374	0.0:0.0:1.0:0.0	.	143;270	B7Z3C7;Q15052	.;ARHG6_HUMAN	T	270;116;116;116;143	ENSP00000250617:P270T;ENSP00000359654:P116T;ENSP00000359656:P116T;ENSP00000439483:P143T	ENSP00000250617:P270T	P	-	1	0	ARHGEF6	135623120	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.886000	0.75611	2.459000	0.83118	0.506000	0.49869	CCC		PASS	0.323	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		25	8	25	8	---	---	---	---
SOX3	6658	broad.mit.edu	37	X	139586835	139586835	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chrX:139586835C>A	ENST00000370536.2	-	1	390	c.391G>T	c.(391-393)Ggc>Tgc	p.G131C		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	131	Poly-Gly.				central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G131C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GTACCCCCGCCACCTCCGCTC	0.706																																						uc004fbd.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(391-393)GGC>TGC		SRY (sex determining region Y)-box 3							19.0	21.0	20.0					X																	139586835		2203	4299	6502	SO:0001583	missense	6658				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139586835C>A		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.391G>T	X.37:g.139586835C>A	ENSP00000359567:p.Gly131Cys						p.G131C	NM_005634	NP_005625	P41225	SOX3_HUMAN			1	391	-	Acute lymphoblastic leukemia(192;7.65e-05)		131			Poly-Gly.		P35714|Q5JWI3|Q9NP49	Missense_Mutation	SNP	ENST00000370536.2	37	c.391G>T	CCDS14669.1	.	.	.	.	.	.	.	.	.	.	c	10.21	1.288293	0.23478	.	.	ENSG00000134595	ENST00000370536	D	0.82433	-1.61	3.57	2.69	0.31865	High mobility group, superfamily (1);	0.421812	0.23062	U	0.052366	T	0.80849	0.4702	N	0.24115	0.695	0.25041	N	0.991207	D	0.89917	1.0	D	0.68192	0.956	T	0.68667	-0.5348	9	.	.	.	.	6.2082	0.20613	0.0:0.853:0.0:0.147	.	131	P41225	SOX3_HUMAN	C	131	ENSP00000359567:G131C	.	G	-	1	0	SOX3	139414501	0.086000	0.21541	0.220000	0.23810	0.103000	0.19146	0.772000	0.26647	0.665000	0.31066	0.525000	0.51046	GGC		PASS	0.706	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1			26	12	26	12	---	---	---	---
CHPF	79586	broad.mit.edu	37	2	220406348	220406362	+	In_Frame_Del	DEL	CCAGTGCAGCCCACC	CCAGTGCAGCCCACC	-	rs541704710		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr2:220406348_220406362delCCAGTGCAGCCCACC	ENST00000243776.6	-	2	1112_1126	c.864_878delGGTGGGCTGCACTGG	c.(862-879)ggggtgggctgcactggt>ggt	p.288_293GVGCTG>G	TMEM198_ENST00000344458.2_5'Flank|TMEM198_ENST00000373883.3_5'Flank|CHPF_ENST00000373891.2_In_Frame_Del_p.288_293GVGCTG>G|CHPF_ENST00000535926.1_In_Frame_Del_p.126_131GVGCTG>G	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	288					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTCGTGGTCACCAGTGCAGCCCACCCCGGTGGCAT	0.581											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002vmc.3																			0					0						c.(862-879)GGGGTGGGCTGCACTGGT>GGT		chondroitin polymerizing factor																																				SO:0001651	inframe_deletion	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220406348_220406362delCCAGTGCAGCCCACC	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.864_878delGGTGGGCTGCACTGG	2.37:g.220406348_220406362delCCAGTGCAGCCCACC	ENSP00000243776:p.Gly288_Thr292del		OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2266	CHPF_uc010zlh.1_In_Frame_Del_p.126_131GVGCTG>G|CHPF_uc002vmd.3_In_Frame_Del_p.288_293GVGCTG>G|TMEM198_uc002vme.2_5'Flank|TMEM198_uc002vmf.2_5'Flank	p.288_293GVGCTG>G	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	1091_1105	-		Renal(207;0.0183)	288_293			Lumenal (Potential).		B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	In_Frame_Del	DEL	ENST00000243776.6	37	c.864_878delGGTGGGCTGCACTGG	CCDS2443.1																																																																																					0.581	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		16	8	16	8	---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65415667	65415667	+	Frame_Shift_Del	DEL	G	G	-			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr3:65415667delG	ENST00000497477.2	-	12	1694	c.1695delC	c.(1693-1695)cccfs	p.P565fs	MAGI1_ENST00000402939.2_Frame_Shift_Del_p.P565fs|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.P565fs|MAGI1_ENST00000470990.1_5'Flank|MAGI1_ENST00000330909.8_Frame_Shift_Del_p.P565fs			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	565					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AACTTGTATTGGGGTCATCTG	0.453																																						uc003dmn.2																			0				lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6						c.(1693-1695)CCCfs		membrane associated guanylate kinase, WW and PDZ							121.0	112.0	115.0					3																	65415667		2203	4300	6503	SO:0001589	frameshift_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65415667delG	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1695delC	3.37:g.65415667delG	ENSP00000424369:p.Pro565fs					MAGI1_uc003dmm.2_Frame_Shift_Del_p.P565fs|MAGI1_uc003dmo.2_Frame_Shift_Del_p.P565fs|MAGI1_uc003dmp.2_Frame_Shift_Del_p.P565fs|MAGI1_uc010hny.2_Frame_Shift_Del_p.P450fs	p.P565fs	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	12	2221	-		Lung NSC(201;0.0016)	565					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Frame_Shift_Del	DEL	ENST00000497477.2	37	c.1695delC																																																																																						0.453	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		28	22	28	22	---	---	---	---
ZNF107	51427	broad.mit.edu	37	7	64169016	64169017	+	In_Frame_Ins	INS	-	-	GAA	rs374463603|rs375319415|rs199594424	byFrequency	TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr7:64169016_64169017insGAA	ENST00000395391.1	+	4	3709_3710	c.2334_2335insGAA	c.(2335-2337)gag>GAAgag	p.779_779E>EE	ZNF107_ENST00000423627.1_In_Frame_Ins_p.779_779E>EE|ZNF107_ENST00000344930.3_In_Frame_Ins_p.779_779E>EE			Q9UII5	ZN107_HUMAN	zinc finger protein 107	779					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CCTACAAATGTGAGTATGGCAA	0.351																																						uc003ttd.2																			0				ovary(1)	1						c.(2332-2337)insGAA		zinc finger protein 107			,	1042,3210		165,712,1249					,	1.0	0.1			28	38,8210		0,38,4086	no	coding,coding	ZNF107	NM_016220.3,NM_001013746.1	,	165,750,5335	A1A1,A1R,RR		0.4607,24.5061,8.64	,	,		1080,11420				SO:0001652	inframe_insertion	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64169016_64169017insGAA	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		Exception_encountered	7.37:g.64169016_64169017insGAA	ENSP00000378789:p.Glu779dup					ZNF107_uc003tte.2_In_Frame_Ins_p.779_780insE	p.779_780insE	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			7	3120_3121	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	779_780						In_Frame_Ins	INS	ENST00000395391.1	37	c.2334_2335insGAA	CCDS5527.1																																																																																					0.351	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		4	2	4	2	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971114	21971114	+	Frame_Shift_Del	DEL	C	C	-			TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr9:21971114delC	ENST00000304494.5	-	2	514	c.244delG	c.(244-246)gtgfs	p.V82fs	CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.V31fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.V31fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.V82fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.R96fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.V31fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.V31fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.V82fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.V31fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.V82fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.R137fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.R96fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	82					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.V82M(2)|p.V82fs*62(1)|p.0(1)|p.T79fs*37(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)|p.V82L(1)|p.P81fs*38(1)|p.V82fs*44(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCGTCGTGCACGGGTCGGGTG	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1373	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(5)|Deletion - In frame(3)|Substitution - Missense(3)|Insertion - Frameshift(2)	p.0?(1112)|p.?(13)|p.V82M(2)|p.V82V(1)|p.T79fs*37(1)|p.V82fs*62(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82L(1)|p.P81fs*38(1)|p.V82fs*44(1)	haematopoietic_and_lymphoid_tissue(283)|skin(175)|central_nervous_system(167)|lung(147)|urinary_tract(91)|bone(74)|soft_tissue(57)|oesophagus(55)|pleura(51)|upper_aerodigestive_tract(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)|cervix(1)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(244-246)GTGfs		cyclin-dependent kinase inhibitor 2A isoform 1							12.0	15.0	14.0					9																	21971114		2169	4258	6427	SO:0001589	frameshift_variant	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971114delC	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.244delG	9.37:g.21971114delC	ENSP00000307101:p.Val82fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Del_p.R137fs	p.V82fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	456	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	82			ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.244delG	CCDS6510.1																																																																																					0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		28	21	28	21	---	---	---	---
OR5W2	390148	broad.mit.edu	37	11	55681566	55681566	+	Frame_Shift_Del	DEL	G	G	-	rs61749302	byFrequency	TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr11:55681566delG	ENST00000344514.1	-	1	492	c.493delC	c.(493-495)cgcfs	p.R165fs		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R165C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAGCATAGGCGGAAGGCCAGT	0.428																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1																			1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|skin(1)	2						c.(493-495)CGCfs		olfactory receptor, family 5, subfamily W,							87.0	77.0	80.0					11																	55681566		2201	4296	6497	SO:0001589	frameshift_variant	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681566delG	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.493delC	11.37:g.55681566delG	ENSP00000342448:p.Arg165fs						p.R165fs	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	493	-			165			Extracellular (Potential).			Frame_Shift_Del	DEL	ENST00000344514.1	37	c.493delC	CCDS31513.1																																																																																					0.428	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		50	33	50	33	---	---	---	---
IGHV3-30	28439	broad.mit.edu	37	14	106790941	106790942	+	RNA	DEL	TC	TC	-	rs369697743		TCGA-33-4538-01A-01D-1267-08	TCGA-33-4538-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e04814f8-a51f-4b6b-a4e9-bd8d2291817c	ed230819-c882-4247-9e1a-66fc4876e648	g.chr14:106790941_106790942delTC	ENST00000390613.2	-	0	431									immunoglobulin heavy variable 3-30																		GCCGCTGATTTCCCGCCAGCGT	0.584																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.																																						8755							g.chr14:106790941_106790942delTC	M83134		14q32.33	2012-02-08			ENSG00000211953	ENSG00000270550		"""Immunoglobulins / IGH locus"""	5591	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152069		14.37:g.106790941_106790942delTC														387		-									RNA	DEL	ENST00000390613.2	37	c.14676_14677delGA																																																																																						0.584	IGHV3-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325163.1	NG_001019		0	8	0	8	---	---	---	---
